Researcher basic information

• Mariko Nakano-Okuno

• Ph.D. (Ethics), Kyoto University, Sep. 1998
• M.A. (Ethics), Kyoto University, Mar. 1995
• B.A. (Ethics), Kyoto University, Mar. 1993

• https://researchmap.jp/mariko_n_okuno?lang=en

• https://orcid.org/0000-0002-2465-3212

• 202501005789965735

• Moral Philosophy, Ethics

• Humanities & Social Sciences, Philosophy and ethics, Ethics, moral philosophy, bioethics, medical ethics, applied ethics

• Bachelor's degree program, School of Humanities and Human Sciences
• Master's degree program, Graduate School of Humanities and Human Sciences
• Doctoral (PhD) degree program, Graduate School of Humanities and Human Sciences

Research activity information

• Feb. 2014, The Ohio State University Sphinx Senior Class Honorary & Mortar Board Senior Honor Society, Recognized for Teaching Excellence
  Nakano-Okuno, Mariko
• Oct. 2000, The Japanese Society for Ethics, Watsuji Award
  for the work, Sidgwick and Contemporary Utilitarianism [in Japanese]
  Nakano-Okuno, Mariko

• Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
  Fitzsimmons, L.; Beaulieu-Jones, B.; Kobren, SN
  BioData Mining, 18, 1, 6, 6, Springer Nature, 01 Dec. 2025, [Peer-reviewed]
  Scientific journal
• Factors influencing trustworthiness and perceived biases of medical information and genetic testing for Black and White Americans
  Crystal Lederhos Smith; Brian Connor Stark; McKenna Kobalter; Mary Carol Barks; Mariko Nakano-Okuno; Ellen Weger Romesburg; Nita Limdi; Thomas May
  PLOS Genetics, 21, 10, e1011800, e1011800, Public Library of Science (PLoS), 31 Oct. 2025, [Peer-reviewed]
  English, Scientific journal, Ensuring diversity in genomic research is crucial to address disparities in healthcare benefits experienced by Black Americans and other minority groups. Despite progress in promoting diversity, Black Americans remain underrepresented in most genetic studies, resulting in unequal access to the benefits of genetic medicine. This study investigates trusted sources of medical and genetic testing information among Black and White Americans, identifying key factors that influence trust and participation in genetic research. Using an online survey of 1,018 participants (Black Americans n = 500, White Americans n = 518), we analyzed trust and bias ratings across various sources, including medical providers, genetic counselors, and social media. Medical providers emerged as the most trusted source for both medical and genetic information across racial groups. In terms of bias, social media was viewed as most biased and medical providers as least biased across both groups. However, Black Americans reported significantly lower trust in medical providers and scientific literature compared to White Americans. Furthermore, Black Americans expressed a stronger preference for receiving medical information from individuals of the same race or ethnicity. These findings highlight the importance of tailoring communication outlets and strategies to address the specific trust concerns of underrepresented populations. Efforts to engage Black Americans in genetic research may benefit from increased involvement of medical providers and genetic counselors, improved transparency, and culturally relevant communication. By addressing these factors, the research community can work towards reducing disparities and promoting equitable access to the benefits of genetic medicine.
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
  Shilpa Nadimpalli Kobren; Mikhail A. Moldovan; Rebecca Reimers; Daniel Traviglia; Xinyun Li; Danielle Barnum; Alexander Veit; Rosario I. Corona; George de V. Carvalho Neto; Julian Willett; Michele Berselli; William Ronchetti; Stanley F. Nelson; Julian A. Martinez-Agosto; Richard Sherwood; Joel Krier; Isaac S. Kohane; Jose Abdenur; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Beatriz Anguiano; Euan A. Ashley; Sanaz Attaripour; Suha Bachir; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Erin E. Baldwin; Allen Bale; Elsa Balton; Manisha Balwani; Michael Bamshad; Mafalda Barbosa; Deborah Barbouth; Rebekah Barrick; Donald Basel; Pinar Bayrak-Toydemir; Taylor Beagle; Alan H. Beggs; Edward Behrens; Megan Bell; Hugo J. Bellen; Paul Berger; Jonathan A. Bernstein; Gerard T. Berry; Louise Bier; Stephanie Bivona; Kirsten Blanco; Lauren Blieden; Elizabeth Blue; Devon Bonner; Brett Bordini; Nicholas Borja; Lorenzo Botto; Steven Boyden; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Francisco Bustos; Manish J. Butte; Russell Butterfield; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; Thomas Cassini; Chun-Hung Chan; Richard Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Elizabeth C. Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Erin Conboy; Brian Corner; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Charlotte Cunningham-Rundles; Precilla D’Souza; Hongzheng Dai; Nitsuh K. Dargie; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell’Angelica; Nada Derar; Patricia Dickson; Katrina Dipple; Naghmeh Dorrani; Jessica Douglas; Abdul Elkadri; Sara Emami; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Rachel Evard; Kimberly Ezell; Layal F. Abi Farraj; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Eric Gayle; Bruce Gelb; Mark Gerstein; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; John E. Gorzynski; Brett H. Graham; Andrea Gropman; Meghan C. Halley; Winston Halstead; Rizwan Hamid; Neil Hanchard; Kelly Hassey; Caroline Hendry; Frances High; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Yan Huang; Alden Huang; Monika Weisz Hubshman; Anna Hurst; John A. Phillips; Wendy Introne; Ayuko Iverson; Gail P. Jarvik; Orpa Jean-Marie; Lauren Jeffries; Joanna Jen; Tanner D. Jensen; Yong-Hui Jiang; Vaidehi Jobanputra; Oguz Kanca; Yigit Karasozen; Odelya Kaufman; Laura Keehan; Shamika Ketkar; Dana Kiley; Gonench Kilich; Eric Klee; Jennefer N. Kohler; Bruce Korf; Susan Korrick; Elijah Kravets; Runjun Kumar; Seema R. Lalani; Brendan C. Lanpher; Ian R. Lanza; Kumarie Latchman; Kimberly LeBlanc; Brendan H. Lee; Miranda Leitheiser; Monkol Lek; Kathleen A. Leppig; Mia Levanto; Richard A. Lewis; Rachel Li; Khurram Liaqat; Pengfei Liu; Nicola Longo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; MayChristine V. Malicdan; Tarun K. K. Mamidi; Shrikant Mane; Lili Mantcheva; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Taylor Maurer; Julie McCarrier; Allyn McConkie-Rosell; Ashley McMinn; Erin McRoy; Hector Rodrigo Mendez; Matthew Might; Mohamad Mikati; Danny Miller; Alexander Miller; Ghayda Mirzaa; Breanna Mitchell; Stephen B. Montgomery; Paolo Moretti; Jennifer Morgan; Marie Morimoto; Tahseen Mozaffar; Lindsay Mulvihill; John J. Mulvihill; Michael Muriello; Sandesh Nagamani; Mariko Nakano-Okuno; Serena Neumann; Thomas J. Nicholas; Donna Novacic; Devin Oglesbee; Carol Oladele; James P. Orengo; Rebecca Overbury; Laura Pace; Stephen C. Pak; J. Carl Pallais; Neil H. Parker; Alex Paul; LéShon Peart; Seth Perlman; Leoyklang Petcharet; Jennifer E. Posey; Lorraine Potocki; Rakale C. Quarells; Aaron Quinlan; Daniel J. Rader; Ramakrishnan Rajagopalan; Deepak A. Rao; Anna Raper; Wendy Raskind; Adriana Rebelo; Chloe M. Reuter; Lynette Rives; Lance H. Rodan; Martin Rodriguez; María José Ortuño Romero; Jill A. Rosenfeld; Elisabeth Rosenthal; Francis Rossignol; Bianca E. Russell; Marla Sabaii; Mohamad Saifeddine; Jacinda B. Sampson; Suzanne Sandmeyer; Timothy Schedl; Jason Schend; Lisa Schimmenti; Kelly Schoch; Jennifer Schymick; Daryl A. Scott; Teodoro Jerves Serrano; Elaine Seto; Mariya Shadrina; Vandana Shashi; Emily Shelkowitz; Susan Shin; Jimann Shin; Saskia Shuman; Edwin K. Silverman; Giorgio Sirugo; Kathy Sisco; Tammi Skelton; Cara Skraban; Carson A. Smith; Kevin S. Smith; Jared Sninsky; Lilianna Solnica-Krezel; Ben Solomon; Albert R. La Spada; Michele Spencer-Manzon; Rebecca C. Spillmann; Maija-Rikka Steenari; Andrew Stergachis; Joan M. Stoler; Kathleen Sullivan; David A. Sweetser; Barbara N. Pusey Swerdzewski; Virginia Sybert; Holly K. Tabor; Queenie Tan; Arjun Tarakad; Herman Taylor; Mustafa Tekin; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Kayla M. Treat; Brianna Tucker; Rachel A. Ungar; Filippo Pinto e. Vairo; Adeline Vanderver; Andres Vargas; Vasilis Vasiliou; Matt Velinder; James Verbsky; Francesco Vetrini; Eric Vilain; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Emily Wang; Michael F. Wangler; Patricia A. Ward; Isum Ward; Alistair Ward; Stephanie M. Ware; Daniel Wegner; Corrine K. Welt; Mark Wener; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Laurens Wiel; Brandon M. Wilk; Lynne A. Wolfe; Heidi Wood; Kim Worley; Elizabeth A. Worthey; Changrui Xiao; Hua Xu; Shinya Yamamoto; Hui Zhang; Michael Zimmermann; Stephan Zuchner; Shamil R. Sunyaev
  Nature Communications, 16, 1, Springer Science and Business Media LLC, 07 Aug. 2025, [Peer-reviewed]
  English, Scientific journal, Abstract
  
  Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated statistical genetics approaches for jointly analyzing these patients are still under development. The Undiagnosed Diseases Network (UDN) brings multiple clinical, research and experimental centers under the same umbrella across the United States to facilitate and scale case-based diagnostic analyses. Here, we present the first joint analysis of whole genome sequencing data of UDN patients across the network. We introduce new, well-calibrated statistical methods for prioritizing disease genes with de novo recurrence and compound heterozygosity. We also detect pathways enriched with candidate and known diagnostic genes. Our computational analysis, coupled with a systematic clinical review, recapitulated known diagnoses and revealed new disease associations. We further release a software package, RaMeDiES, enabling automated cross-analysis of deidentified sequenced cohorts for new diagnostic and research discoveries. Gene-level findings and variant-level information across the cohort are available in a public-facing browser (https://dbmi-bgm.github.io/udn-browser/). These results show that case-level diagnostic efforts should be supplemented by a joint genomic analysis across cohorts.
• A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
  Sarah Fazal; Harriet Dashnow; Maike F. Dohrn; Jacquelyn Raposo; Laurel Hiatt; Matt C. Danzi; Isaac R.L. Xu; Camilo Toro; David R. Adams; Karen Usdin; Bruce Hayward; Shilpa Nadimpalli Kobren; Shamil R. Sunyaev; Rebecca C. Spillmann; Vandana Shashi; Adriana Rebelo; Guney Bademci; Aaron Quinlan; Abdul Elkadri; Adeline Vanderver; Adriana Rebelo; Alan H. Beggs; Albert R. La Spada; Alden Huang; Alex Paul; Alexander Miller; Ali Al-Beshri; Alistair Ward; Allen Bale; Allyn McConkie-Rosell; Alyssa A. Tran; Andrea Gropman; Andres Vargas; Andrew B. Crouse; Andrew Stergachis; Anna Hurst; Anna Raper; Arjun Tarakad; Ashley Andrews; Ashley McMinn; Ashok Balasubramanyam; Barbara N. Pusey Swerdzewski; Beatriz Anguiano; Ben Afzali; Ben Solomon; Beth A. Martin; Bianca E. Russell; Brandon M. Wilk; Breanna Mitchell; Brendan C. Lanpher; Brendan H. Lee; Brent L. Fogel; Brett Bordini; Brett H. Graham; Brian Corner; Brianna Tucker; Bruce Korf; Calum A. MacRae; Camilo Toro; Cara Skraban; Carlos A. Bacino; Carol Oladele; Caroline Hendry; Carson A. Smith; Cecilia Esteves; Changrui Xiao; Chloe M. Reuter; Christine M. Eng; Chun-Hung Chan; Colleen E. Wahl; Corrine K. Welt; Cynthia J. Tifft; Dana Kiley; Daniel J. Rader; Daniel Wegner; Danny Miller; Daryl A. Scott; Dave Viskochil; David A. Sweetser; David R. Adams; Deborah Barbouth; Deepak A. Rao; Devin Oglesbee; Devon Bonner; Donald Basel; Donna Novacic; Francisco Bustos velasq; Dustin Baldridge; Edward Behrens; Edwin K. Silverman; Elaine Seto; Elijah Kravets; Elisabeth Rosenthal; Elizabeth A. Worthey; Elizabeth A. Burke; Elizabeth Blue; Elizabeth C. Chao; Elizabeth L. Fieg; Ellen F. Macnamara; Elsa Balton; Emily Glanton; Emily Shelkowitz; Emily Wang; Eric Allenspach; Eric Klee; Eric Vilain; Erin Conboy; Erin E. Baldwin; Erin McRoy; Esteban C. Dell'Angelica; Euan A. Ashley; F. Sessions Cole; Filippo Pinto e Vairo; Frances High; Francesco Vetrini; Francis Rossignol; Fuki M. Hisama; Gabor Marth; Gail P. Jarvik; Gary D. Clark; George Carvalho; Gerard T. Berry; Ghayda Mirzaa; Giorgio Sirugo; Gonench Kilich; Guney Bademci; Hector Rodrigo Mendez; Heidi Wood; Herman Taylor; Holly K. Tabor; Hongzheng Dai; Hsiao-Tuan Chao; Hua Xu; Hugo J. Bellen; Hui Zhang; Ian Glass; Ian R. Lanza; Ingrid A. Holm; Isaac S. Kohane; Isum Ward; Ivan Chinn; J. Carl Pallais; Jacinda B. Sampson; James P. Orengo; James Verbsky; Jared Sninsky; Jason Hom; Jason Schend; Jennefer N. Kohler; Jennifer E. Posey; Jennifer Morgan; Jennifer Schymick; Jennifer Wambach; Jessica Douglas; Jiayu Fu; Jill A. Rosenfeld; Jimann Shin; Joan M. Stoler; Joanna M. Gonzalez; John A. Phillips; John Carey; John E. Gorzynski; John J. Mulvihill; Joie Davis; Jonathan A. Bernstein; Jordan Whitlock; Jose Abdenur; Joseph Loscalzo; Joy D. Cogan; Julian A. Martínez-Agosto; Julie McCarrier; Justin Alvey; Kahlen Darr; Kaitlin Callaway; Kathleen A. Leppig; Kathleen Sullivan; Kathy Sisco; Kathyrn Singh; Katrina Dipple; Kayla M. Treat; Kelly Hassey; Kelly Schoch; Kevin S. Smith; Khurram Liaqat; Kim Worley; Kimberly Ezell; Kimberly LeBlanc; Kumarie Latchman; Lance H. Rodan; Laura Keehan; Laura Pace; Laurel A. Cobban; Lauren Blieden; Lauren C. Briere; Lauren Jeffries; Laurens Wiel; Layal F. Abi Farraj; Leoyklang Petcharet; LéShon Peart; Lili Mantcheva; Lilianna Solnica-Krezel; Lindsay C. Burrage; Lindsay Mulvihill; Lisa Schimmenti; Lisa T. Emrick; Lorenzo Botto; Lorraine Potocki; Lynette Rives; Lynne A. Wolfe; Maija-Rikka Steenari; Manish J. Butte; Margaret Delgado; María José Ortuño Romero; Maria T. Acosta; Marie Morimoto; Mariko Nakano-Okuno; Mark Gerstein; Mark Wener; Marla Sabaii; Martha Horike-Pyne; Martin G. Martin; Martin Rodriguez; Matt Velinder; Matthew Coggins; Matthew Might; Matthew T. Wheeler; MayChristine V. Malicdan; Megan Bell; Meghan C. Halley; Melissa Walker; Mia Levanto; Michael Bamshad; Michael F. Wangler; Michael Muriello; Michael Zimmermann; Michele Spencer-Manzon; Miranda Leitheiser; Mohamad Mikati; Mohamad Saifeddine; Monika Weisz Hubshman; Monkol Lek; Monte Westerfield; Mustafa Tekin; Nada Derar; Naghmeh Dorrani; Neil H. Parker; Neil Hanchard; Nicholas Borja; Nicola Longo; Nicole M. Walley; Nitsuh K. Dargie; Odelya Kaufman; Oguz Kanca; Orpa Jean-Marie; Page C. Goddard; Paolo Moretti; Patricia A. Ward; Patricia Dickson; Paul Berger; Paul G. Fisher; Pengfei Liu; Peter Byers; Pinar Bayrak-Toydemir; Precilla D'Souza; Queenie Tan; Rachel A. Ungar; Rachel Li; Rachel Mahoney; Ramakrishnan Rajagopalan; Raquel L. Alvarez; Rebecca C. Spillmann; Rebecca Ganetzky; Rebecca Overbury; Rebekah Barrick; Richard A. Lewis; Richard L. Maas; Rizwan Hamid; Rong Mao; Ronit Marom; Rosario I. Corona; Runjun Kumar; Russell Butterfield; Sanaz Attaripour; Sandesh Nagamani; Sara Emami; Seema R. Lalani; Serena Neumann; Seth Perlman; Shamika Ketkar; Shamil R. Sunyaev; Shilpa N. Kobren; Shinya Yamamoto; Shrikant Mane; Shruti Marwaha; Sirisak Chanprasert; Stanley F. Nelson; Stephan Zuchner; Stephanie Bivona; Stephanie M. Ware; Stephen B. Montgomery; Stephen Pak; Steven Boyden; Suha Bachir; Surendra Dasari; Susan Korrick; Suzanne Sandmeyer; Tahseen Mozaffar; Tammi Skelton; Tanner D. Jensen; Tarun KK. Mamidi; Taylor Beagle; Taylor Maurer; Teodoro Jerves Serrano; Terra R. Coakley; Thomas Cassini; Thomas J. Nicholas; Timothy Schedl; Tiphanie P. Vogel; Vaidehi Jobanputra; Valerie V. Maduro; Vandana Shashi; Vasilis Vasiliou; Virginia Sybert; Vishnu Cuddapah; Wendy Introne; Wendy Raskind; Willa Thorson; William A. Gahl; William E. Byrd; William J. Craigen; Winston Halstead; Yan Huang; Yigit Karasozen; Yong-Hui Jiang; Mustafa Tekin; Aaron R. Quinlan; Stephan Zuchner
  Genetics in Medicine, 27, 8, 101462, 101462, Elsevier BV, Aug. 2025, [Peer-reviewed]
  Scientific journal
• De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
  Monika Weisz-Hubshman; Lindsay C. Burrage; Sharayu V. Jangam; Jill A. Rosenfeld; Sandra von Hardenberg; Anke Bergmann; Manuela Friederike Richter; Malgorzata Rydzanicz; Rafal Ploski; Agnieszka Stembalska; Wendy K. Chung; Rebecca R. Hernan; Foong Y. Lim; Theresa Brunet; Steffen Syrbe; Boris Keren; Solveig Heide; David R. Murdock; Hongzheng Dai; Fan Xia; Shamika Ketkar; Brian Dawson; Vinodh Narayanan; Hillary K. Graves; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Erin Baldwin; Jim Bale; Elsa Balton; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Precilla D’Souza; Hongzheng Dai; Nitsuh K. Dargie; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yan Huang; Anna Hurst; Wendy Introne; Gail P. Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Oguz Kanca; Yigit Karasozen; Shamika Ketkar; Dana Kiley; Gonench Kilich; Eric Klee; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Bruce Korf; Susan Korrick; Deborah Krakow; Elijah Kravets; Seema R. Lalani; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kumarie Latchman; Kimberly LeBlanc; Brendan H. Lee; Kathleen A. Leppig; Richard A. Lewis; Pengfei Liu; Nicola Longo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Allyn McConkie-Rosell; Ashley McMinn; Matthew Might; Mohamad Mikati; Danny Miller; Ghayda Mirzaa; Breanna Mitchell; Paolo Moretti; Marie Morimoto; John J. Mulvihill; Lindsay Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; Serena Neumann; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Neil H. Parker; LéShon Peart; Leoyklang Petcharet; John A. Phillips; Filippo Pinto e Vairo; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Daniel J. Rader; Ramakrishnan Rajagopalan; Deepak A. Rao; Anna Raper; Wendy Raskind; Adriana Rebelo; Chloe M. Reuter; Lynette Rives; Lance H. Rodan; Martin Rodriguez; Jill A. Rosenfeld; Elizabeth Rosenthal; Francis Rossignol; Maura Ruzhnikov; Marla Sabaii; Jacinda B. Sampson; Timothy Schedl; Lisa Schimmenti; Kelly Schoch; Daryl A. Scott; Elaine Seto; Vandana Shashi; Emily Shelkowitz; Sam Sheppeard; Jimann Shin; Edwin K. Silverman; Giorgio Sirugo; Kathy Sisco; Tammi Skelton; Cara Skraban; Carson A. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Andrew Stergachis; Joan M. Stoler; Kathleen Sullivan; Shamil R. Sunyaev; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie Tan; Arjun Tarakad; Herman Taylor; Mustafa Tekin; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Heidi Wood; Kim Worley; Shinya Yamamoto; Zhe Zhang; Stephan Zuchner; Michael F. Wangler; Carlos Bacino; Brendan Lee
  Genetics in Medicine, 27, 4, 101369, 101369, Elsevier BV, Apr. 2025, [Peer-reviewed]
  English, Scientific journal
• Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
  Nicholas A. Borja; Rory J. Tinker; Stephanie A. Bivona; Carson A. Smith; Theodore Krijnse Locker; Samuela Fernandes; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie A. Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas A. Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom
  American Journal of Medical Genetics, Part A, 197, 2, Feb. 2025, [Peer-reviewed]
  Scientific journal
• Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
  Queenie K.‐G. Tan; Allyn McConkie‐Rosell; Rachel Mahoney; Rebecca C. Spillmann; Kelly Schoch; Sirisak Chanprasert; Maria T. Acosta; Camilo Toro; Jill A. Rosenfeld; James P. Orengo; Daryl A. Scott; Jorge L. Granadillo; Kathleen Sisco; Daniel J. Wegner; Mustafa Tekin; Stephanie Bivona; LéShon Peart; Lance Rodan; Devon Bonner; Matthew T. Wheeler; Jonathan A. Bernstein; Maura Ruzhnikov; David R. Adams; Fuki M. Hisama; Vandana Shashi
  American Journal of Medical Genetics Part A, 197, 4, Wiley, 04 Dec. 2024, [Peer-reviewed]
  English, Scientific journal, ABSTRACT
  
  Patients with undiagnosed and/or rare disorders frequently manifest dysmorphic and neurological features. There is a lack of information on the effectiveness of telehealth in the evaluation of these disorders. We thus compared an unassisted virtual physical examination (PE) with an in‐person PE in undiagnosed individuals and also assessed participant telehealth satisfaction. Twenty‐six individuals enrolled in the Undiagnosed Diseases Network study underwent an in‐home synchronous virtual PE, and a subsequent in‐person PE, by the same clinician. The participants completed surveys on telehealth usability and provider empathy. On PE, general appearance and craniofacial features showed near perfect agreement (κ = 0.81–1.00) between the telehealth and in‐person evaluations. Specific components of the neurological examination demonstrated substantial agreement (speech, gait, coordination; κ > 0.61), whereas others had moderate agreement (muscle tone, strength; κ = 0.41–0.60), and a few had none to slight agreement (skin; κ < 0.20). Some systems could not be examined in the virtual PE. Importantly, features relevant to diagnosis or management were missed on the virtual PE in only 2/26 individuals. The participants were satisfied with the quality of the telehealth interaction, as well as empathy demonstrated by providers in the virtual interface. Telehealth is effective for PEs in undiagnosed diseases and is acceptable to affected individuals.
• LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
  Jinfeng Lu; Camilo Toro; David R. Adams; Cristiane Araujo Martins Moreno; Wan Ping Lee; Yuk Yee Leung; Mathew B. Harms; Badri Vardarajan; Erin L. Heinzen; Maria T. Acosta; Margaret Adam; Kosuke Izumi; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Patricia Dickson; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey
  BMC Genomics, 25, 1, Dec. 2024, [Peer-reviewed]
  Scientific journal
• Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry.
  Crystal Lederhos Smith; B Connor Stark; McKenna Kobalter; Mary Carol Barks; Mariko Nakano-Okuno; Ellen Wager Romesburg; Nita Limdi; Thomas May
  Journal of community genetics, 15, 6, 723, 733, Springer Nature, Dec. 2024, [Peer-reviewed], [International Magazine]
  English, Scientific journal
• Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
  Lucy McNamee; Kelly Schoch; Alden Huang; Hane Lee; Lee kai Wang; Edward C. Smith; Robert K. Lark; Anne F. Buckley; Vaidehi Jobanputra; Stanley F. Nelson; Vandana Shashi; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Precilla D'Souza; Hongzheng Dai; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes
  American Journal of Medical Genetics, Part A, 194, 11, Nov. 2024, [Peer-reviewed]
  Scientific journal
• Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder
  Maria Carla Borroto; Heena Patel; Siddharth Srivastava; Lindsay C. Swanson; Boris Keren; Sandra Whalen; Cyril Mignot; Xiaodong Wang; Qian Chen; Jill A. Rosenfeld; Scott McLean; Rebecca O. Littlejohn; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley
  Pediatric Neurology, 160, 45, 53, Nov. 2024, [Peer-reviewed]
  Scientific journal
• Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
  Yue Huang; Kristy L. Jay; Alden Yen-Wen Huang; Jijun Wan; Sharayu V. Jangam; Odelia Chorin; Annick Rothschild; Ortal Barel; Milena Mariani; Maria Iascone; Han Xue; Maria T. Acosta; David R. Adams; Raquel; L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; George D. Carvhalo Neto; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Alana Grajewski; Don Hadley; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High
  Genetics in Medicine, 26, 11, Nov. 2024, [Peer-reviewed]
  Scientific journal
• The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
  John J. Mulvihill; Laura Findley; Weihong Ni; Janet S. Sinsheimer; F. Session Cole; Cecilia Esteves; Jonathan A. Bernstein; John H. Newman; Matthew T. Wheeler; Jill R. Mokry; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama
  Genetics in Medicine, 26, 10, Oct. 2024, [Peer-reviewed]
  Scientific journal
• Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
  Matthew J. Moulton; Kristhen Atala; Yiming Zheng; Debdeep Dutta; Dorothy K. Grange; Wen Wen Lin; Daniel J. Wegner; Jennifer A. Wambach; Angela L. Duker; Michael B. Bober; Lisa Kratz; Carol A. Wise; Ila Oxendine; Anas Khanshour; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; William J. Craigen; Hongzheng Dai; Lisa T. Emrick; Shamika Ketkar; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Elaine Seto; Daryl A. Scott; Arjun Tarakad; Alyssa A. Tran; Tiphanie P. Vogel; Monika Weisz Hubshman; Kim Worley; Hugo J. Bellen; Michael F. Wangler; Shinya Yamamoto; Oguz Kanca; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Marni Falk; Kelly Hassey; Kosuke Izumi; Gonench Kilich; Kathleen Sullivan; Adeline Vanderver; Zhe Zhang; Anna Raper; Vaidehi Jobanputra; Mohamad Mikati; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Rebecca C. Spillmann; Queenie K.G. Tan; Nicole M. Walley; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Jessica Douglas; Emily Glanton; Shilpa N. Kobren; Isaac S. Kohane; Kimberly LeBlanc; Audrey Stephannie C. Maghiro; Rachel Mahoney; Alexa T. McCray; Amelia L.M. Tan; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Nicholas Borja
  Genetics in Medicine, 26, 9, Sep. 2024, [Peer-reviewed]
  Scientific journal
• Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
  Jennefer N. Kohler; Nicole R. Legro; Dustin Baldridge; Jimann Shin; Angela Bowman; Berrak Ugur; Madelyn M. Jackstadt; Leah P. Shriver; Gary J. Patti; Bo Zhang; Wenjia Feng; Anthony R. McAdow; Pagé Goddard; Rachel A. Ungar; Tanner Jensen; Kevin S. Smith; Laure Fresard; Raquel Alvarez; Devon Bonner; Chloe M. Reuter; Colleen McCormack; Elijah Kravets; Shruti Marwaha; James M. Holt; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Brian Corner; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Patricia Dickson; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Kimberly Ezell; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher
  Genetics in Medicine, 26, 9, Sep. 2024, [Peer-reviewed]
  Scientific journal
• Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant
  Emilia Stellacci; Jennefer N. Carter; Luca Pannone; David Stevenson; Dorsa Moslehi; Serenella Venanzi; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Erin Baldwin; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry,; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Precilla D'Souza; Hongzheng Dai; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama
  American Journal of Medical Genetics, Part A, 194, 8, Aug. 2024, [Peer-reviewed]
  Scientific journal
• 思想に人生を捧げる前に : 長期主義と功利主義の間の齟齬について—特集 長期主義 : 遠い未来世代のための思想
  奧野 満里子
  現代思想, 52, 11, 87, 101, 東京 : 青土社, Aug. 2024, [Invited], [Lead author, Corresponding author]
  Japanese
• EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
  Irman Forghani; Steven H. Lang; Matthew J. Rodier; Stephanie A. Bivona; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie A. Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; Madison P. Goldrich
  American Journal of Medical Genetics, Part A, 194, 6, Jun. 2024, [Peer-reviewed]
  Scientific journal
• Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
  Jenna Pucel; Lauren C. Briere; Chloe Reuter; Perman Gochyyev; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Alana Grajewski; Don Hadley; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi
  Genetics in Medicine, 26, 6, Jun. 2024, [Peer-reviewed]
  Scientific journal
• Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
  Maike F. Dohrn; Guney Bademci; Adriana P. Rebelo; Médéric Jeanne; Nicholas A. Borja; Danique Beijer; Matt C. Danzi; Stephanie A. Bivona; Paul Gueguen; Mohammad F. Zafeer; Mustafa Tekin; Stephan Züchner; Maria T. Acosta; David R. Adams; Ben Afzali; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie A. Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas A. Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Brian Corner; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Precilla D'Souza; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Kimberly Ezell; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neil Hanchard; Kelly Hassey; Nichole Hayes; Frances High
  Annals of Clinical and Translational Neurology, 11, 4, 1075, 1079, Apr. 2024, [Peer-reviewed]
  Scientific journal
• De novo variants in DENND5B cause a neurodevelopmental disorder
  Marcello Scala; Valeria Tomati; Matteo Ferla; Mariateresa Lena; Julie S. Cohen; Ali Fatemi; Elly Brokamp; Anna Bican; John A. Phillips; Mary E. Koziura; Michael Nicouleau; Marlene Rio; Karine Siquier; Nathalie Boddaert; Ilaria Musante; Serena Tamburro; Simona Baldassari; Michele Iacomino; Paolo Scudieri; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Ben Afzali; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey
  American Journal of Human Genetics, 111, 3, 529, 543, 07 Mar. 2024, [Peer-reviewed]
  Scientific journal
• Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
  Sandra Donkervoort; Payam Mohassel; Melanie O'Leary; Devon E. Bonner; Taila Hartley; Nicole Acquaye; Astrid Brull; Tahseen Mozaffar; Mario A. Saporta; David A. Dyment; Jacinda B. Sampson; Sander Pajusalu; Christina Austin-Tse; Kyle Hurth; Julie S. Cohen; Kirsty McWalter; Jodi Warman-Chardon; Amy Crunk; A. Reghan Foley; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Ben Afzali; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon E. Bonner; Lorenzo Botto; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Thomas Cassini; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey; Andrea Gropman; Meghan C. Halley; Rizwan Hamid
  Annals of Clinical and Translational Neurology, 11, 3, 629, 640, Mar. 2024, [Peer-reviewed]
  Scientific journal
• Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
  Lauren Jeffries; Emily K. Mis; Kirsty McWalter; Sandra Donkervoort; Nina N. Brodsky; Jean Marie Carpier; Weizhen Ji; Cristian Ionita; Bhaskar Roy; Jon S. Morrow; Armine Darbinyan; Krishna Iyer; Ritu B. Aul; Siddharth Banka; Katherine R. Chao; Laura Cobbold; Stacey Cohen; Helena M. Custodio; Margaret Drummond-Borg; Frances Elmslie; Erika Finanger; Bryan E. Hainline; Ingo Helbig; Stacy Hewson; Ying Hu; Adam Jackson; Dragana Josifova; Monica Konstantino; Meganne E. Leach; Bryan Mak; David McCormick; Elisabeth McGee; Stanley Nelson; Joanne Nguyen; Kimberly Nugent; Lucy Ortega; Howard P. Goodkin; Elizabeth Roeder; Sani Roy; Katie Sapp; Dimah Saade; Sanjay M. Sisodiya; Karen Stals; Shelley Towner; William Wilson; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O'Driscoll; Kai Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz
  Genetics in Medicine, 26, 2, Feb. 2024, [Peer-reviewed]
  Scientific journal
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
  Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert
  American Journal of Human Genetics, 111, 1, 96, 118, 04 Jan. 2024, [Peer-reviewed]
  Scientific journal
• De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
  Scott K. Ward; Alexandrea Wadley; Chun hui Tsai; Paul J. Benke; Lisa Emrick; Kristen Fisher; Kimberly M. Houck; Hongzheng Dai; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Patricia Dickson; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes
  American Journal of Medical Genetics, Part A, 194, 1, 17, 30, Jan. 2024, [Peer-reviewed]
  Scientific journal
• Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
  Thomas May; Crystal L Smith; Whitley Kelley; Kelly East; Lori Orlando; Meagan Cochran; Sierra Colletto; Irene Moss; Mariko Nakano-Okuno; Bruce Korf; Nita Limdi
  Family practice, 40, 5-6, 760, 767, Oxford University Press (OUP), 22 Dec. 2023, [Peer-reviewed], [International Magazine]
  English, Scientific journal
• Continuing a search for a diagnosis: the impact of adolescence and family dynamics
  Ilana M. Miller; Beverly M. Yashar; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid
  Orphanet Journal of Rare Diseases, 18, 1, Dec. 2023, [Peer-reviewed]
  Scientific journal
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
  Marie Morimoto; Vikas Bhambhani; Nour Gazzaz; Mariska Davids; Paalini Sathiyaseelan; Ellen F. Macnamara; Jennifer Lange; Anna Lehman; Patricia M. Zerfas; Jennifer L. Murphy; Maria T. Acosta; Camille Wang; Emily Alderman; Margaret Adam; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Irma Gutierrez; Don Hadley
  npj Genomic Medicine, 8, 1, Dec. 2023, [Peer-reviewed]
  Scientific journal
• Participation in a national diagnostic research study: assessing the patient experience
  Lindsay E. Rosenfeld; Kimberly LeBlanc; Anna Nagy; Braeden K. Ego; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama
  Orphanet Journal of Rare Diseases, 18, 1, Dec. 2023, [Peer-reviewed]
  Scientific journal
• Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
  Allyn McConkie-Rosell; Rebecca C. Spillmann; Kelly Schoch; Jennifer A. Sullivan; Nicole Walley; Marie McDonald; Stephen R. Hooper; Vandana Shashi; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen; Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey
  Journal of Genetic Counseling, 32, 5, 993, 1008, Oct. 2023, [Peer-reviewed]
  Scientific journal
• Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
  Halley, MC; Young, JL; Tang, C.; Mintz, KT; Lucas-Griffin, S.; Maghiro, A.; Ashley, EA; Tabor, HK; Network, UD; Acosta, MT; Adam, M.; Adams, DR; Alvarez, RL; Alvey, J.; Amendola, L.; Andrews, A.; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bellen, HJ; Bennett, J.; Berg-Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H-T.; Chinn, I.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cope, H.; Corona, R.; Craigen, WJ; Crouse, AB; Cunningham, M.; D'Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Dell'Angelica, EC; Dickson, P.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Falk, M.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Goddard, PC; Godfrey, RA; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne; Isasi, R.; Izumi, K.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, DM; Kravets, E.; Lalani, SR; Lam, B.; Lam, C.; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Mahoney, R.; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez-Agosto, JA; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, JJ; Nakano-Okuno, M.; Nelson, SF; Newman, JH; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Swerdzewski, BNP; Quinlan, A.; Rao, DA; Raper, A.; Raskind, W.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, DA; Scott, CR; Seto, E.; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solnica-Krezel, L.; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, K.; Sullivan, JA; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tan, QK-G.; Tan, ALM; Tarakad, A.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Ungar, RA; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Walker, M.; Wallace, S.; Walley, NM; Wambach, J.; Wan, J.; Wang, L-K.; Wangler, MF; Ward, PA; Wegner, D.; Hubshman, MW; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.
  Journal of Pediatrics, 261, 113537, 113537, Elsevier, Oct. 2023, [Peer-reviewed]
  Scientific journal
• Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
  Pujol‐Giménez, J.; Mirzaa, G.; Blue, EE; Albano, G.; Miller, DE; Allworth, A.; Bennett, JT; Byers, PH; Chanprasert, S.; Chen, J.; Doherty, D.; Folta, AB; Gillentine, MA; Glass, I.; Hing, A.; Horike‐Pyne, M.; Leppig, KA; Parhin, A.; Ranchalis, J.; Raskind, WH; Rosenthal, EA; Schwarze, U.; Sheppeard, S.; Strohbehn, S.; Sybert, VP; Timms, A.; Wener, M.; Bamshad, MJ; Leal, SM; Nickerson, DA; Anderson, P.; Bacus, TJ; Blue, EE; Brower, K.; Buckingham, KJ; Chong, JX; Sánchez, DC; Davis, CP; Davis, CJ; Frazar, CD; Gomeztagle‐Burgess, K.; Gordon, WW; Horike‐Pyne, M.; Hurless, JR; Jarvik, GP; Johanson, E.; Kolar, JT; Marvin, CT; McGee, S.; McGoldrick, DJ; Mekonnen, B.; Nielsen, PM; Patterson, K.; Radhakrishnan, A.; Richardson, MA; Roote, GT; Ryke, EL; Schrauwen, I.; Shively, KM; Smith, JD; Tackett, M.; Wang, G.; Weiss, JM; Wheeler, MM; Yi, Q.; Zhang, X.; Acosta, MT; Adam, M.; Adams, DR; Alvarez, RL; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, EA; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak‐Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bellen, HJ; Bennett, J.; Berg‐Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cope, H.; Corona, R.; Craigen, WJ; Crouse, AB; Cunningham, M.; D'Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Dell'Angelica, EC; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Falk, M.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Goddard, PC; Godfrey, RA; Golden‐Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, MC; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike‐Pyne, M.; Huang, A.; Hutchison, S.; Introne; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean‐Marie, O.; Jobanputra; Karaviti, L.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, DM; Kravets, E.; Lalani, SR; Lam, B.; Lam, C.; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Maghiro, A.; Mahoney, R.; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez‐Agosto, JA; Marwaha, S.; McCauley, J.; McConkie‐Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano‐Okuno, M.; Nelson, SF; Newman, JH; Nicholas, SK; Nickerson, D.; Nieves‐Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Swerdzewski, BNP; Quinlan, A.; Rao, DA; Raper, A.; Raskind, W.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, DA; Scott, CR; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solnica‐Krezel, L.; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, K.; Sullivan, JA; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tabor, HK; Tan, QK; Tan, ALM; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Ungar, RA; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Walker, M.; Wallace, S.; Walley, NM; Wambach, J.; Wan, J.; Wang, L.; Wangler, MF; Ward, PA; Wegner, D.; Hubshman, MW; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.; Bamshad, MJ; Hisama, FM; Jarvik, GP; Dipple, KM; Hediger, MA; Stergachis, AB
  Annals of Clinical and Translational Neurology, 10, 6, 1046, 1053, Wiley, Jun. 2023, [Peer-reviewed]
  Scientific journal
• De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
  Andrews, JC; Mok, J-W.; Kanca, O.; Jangam, S.; Tifft, C.; Macnamara, EF; Russell, BE; Wang, L-K.; Network, UD; Acosta, MT; Adam, M.; Adams, DR; Alvarez, RL; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, EA; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bellen, HJ; Bennett, J.; Berg-Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brokamp, E.; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H-T.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cooper, CM; Cope, H.; Corona, R.; Craigen, WJ; Crouse, AB; Cunningham, M.; D’Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Dell'Angelica, EC; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Duncan, L.; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Falk, M.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Goddard, PC; Godfrey, RA; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, MC; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra; Karaviti, L.; Kennedy, J.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, DM; Kravets, E.; Lalani, SR; Lam, B.; Lam, C.; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Maghiro, A.; Mahoney, R.; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez-Agosto, JA; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano-Okuno, M.; Nelson, SF; Newman, JH; Nicholas, SK; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Swerdzewski, BNP; Quinlan, A.; Rao, DA; Raper, A.; Raskind, W.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, DA; Scott, CR; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solem, E.; Solnica-Krezel, L.; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, K.; Sullivan, JA; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tabor, HK; Tan, QK-G.; Tan, ALM; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Ungar, RA; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Walker, M.; Wallace, S.; Walley, NM; Wambach, J.; Wan, J.; Wang, L-K.; Wangler, MF; Ward, PA; Wegner, D.; Hubshman, MW; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.; Nelson, SF; Bellen, HJ; Yamamoto, S.; Malicdan, MCV; Wangler, MF
  Genetics in Medicine, 25, 6, 100833, 100833, Elsevier, Jun. 2023, [Peer-reviewed]
  Scientific journal
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder
  Tepe, B.; Macke, EL; Niceta, M.; Hubshman, MW; Kanca, O.; Schultz-Rogers, L.; Zarate, YA; Schaefer, GB; De Luque, JLG; Wegner, DJ; Cogne, B.; Gilbert-Dussardier, B.; Le Guillou; Wagner, EJ; Pais, LS; Neil, JE; Mochida, GH; Walsh, CA; Magal, N.; Drasinover, V.; Shohat, M.; Schwab, T.; Schmitz, C.; Clark, K.; Fine, A.; Lanpher, B.; Gavrilova, R.; Blanc, P.; Burglen, L.; Afenjar, A.; Steel, D.; Kurian, MA; Prabhakar, P.; Gößwein, S.; Di Donato; Bertini, ES; Network, UD; Acosta, MT; Adam, M.; Adams, DR; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bellen, HJ; Bennet, J.; Berg-Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brokamp, E.; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H-T.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cooper, CM; Cope, H.; Craigen, WJ; Crouse, AB; Cunningham, M.; D'Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Deardorff, M.; Dell'Angelica, EC; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Duncan, L.; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Esteves, C.; Falk, M.; Fernandez, L.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Godfrey, RA; Golden-Grant, K.; Goldrich, MP; Grajewski, A.; Gutierrez, I.; Hadley, D.; Hahn, S.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Introne; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra; Karaviti, L.; Kennedy, J.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Krakow, D.; Krasnewich, DM; Kravets, E.; Korrick, S.; Koziura, M.; Lalani, SR; Lam, B.; Lam, C.; LaMoure, GL; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Mahoney, R.; Mak, BC; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez-Agosto, JA; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, PM; Nakano-Okuno, M.; Nelson, SF; Newman, JH; Nicholas, SK; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CG; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Pusey, BN; Quinlan, A.; Raskind, W.; Raja, AN; Rao, DA; Raper, A.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, CR; Scott, DA; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solem, E.; Krezel, LS; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, JA; Sullivan, K.; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tabor, HK; Tan, ALM; Tan, QK-G.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Tucker, BM; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Walker, M.; Wallace, S.; Walley, NM; Wambach, J.; Wan, J.; Wang, L-K.; Wangler, MF; Ward, PA; Wegner, D.; Weisz-Hubshman, M.; Wener, M.; Wenger, T.; Perry, KW; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zastrow, DB; Zhang, Z.; Zhao, C.; Zuchner, S.; Wangler, MF; Yamamoto, S.; Tartaglia, M.; Klee, EW; Bellen, HJ
  American Journal of Human Genetics, 110, 5, 774, 789, Elsevier, May 2023, [Peer-reviewed]
  Scientific journal
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
  Srivastava, S.; Shaked, HM; Gable, K.; Gupta, SD; Pan, X.; Somashekarappa, N.; Han, G.; Mohassel, P.; Gotkine, M.; Doney, E.; Goldenberg, P.; Tan, QKG; Gong, Y.; Kleinstiver, B.; Wishart, B.; Cope, H.; Pires, CB; Stutzman, H.; Spillmann, RC; Alejandro, ME; Azamian, MS; Bacino, CA; Balasubramanyam, A.; Burrage, LC; Chao, H-T.; Clark, GD; Craigen, WJ; Dai, H.; Dhar, SU; Emrick, LT; Goldman, AM; Hanchard, NA; Jamal, F.; Karaviti, L.; Lalani, SR; Lee, BH; Lewis, RA; Marom, R.; Moretti, PM; Murdock, DR; Nicholas, SK; Orengo, JP; Posey, JE; Potocki, L.; Rosenfeld, JA; Samson, SL; Scott, DA; Tran, AA; Vogel, TP; Wangler, MF; Yamamoto, S.; Eng, CM; Liu, P.; Ward, PA; Behrens, E.; Deardorff, M.; Falk, M.; Hassey, K.; Sullivan, K.; Vanderver, A.; Goldstein, DB; Cope, H.; McConkie-Rosell, A.; Schoch, K.; Shashi, V.; Smith, EC; Spillmann, RC; Sullivan, JA; Tan; QK-G.; Walley, NM; Agrawal, PB; Beggs, AH; Berry, GT; Briere, LC; Cobban, LA; Coggins, M.; Cooper, CM; Fieg, EL; High, F.; Holm, IA; Korrick, S.; Krier, JB; Lincoln, SA; Loscalzo, J.; Maas, RL; MacRae, CA; Pallais, JC; Rao, DA; Rodan, LH; Silverman, EK; Stoler, JM; Sweetser, DA; Walker, M.; Walsh, CA; Esteves, C.; Kelley, EG; Kohane, IS; LeBlanc, K.; McCray, AT; Nagy, A.; Dasari, S.; Lanpher, BC; Lanza, IR; Morava, E.; Oglesbee, D.; Bademci, G.; Barbouth, D.; Bivona, S.; Carrasquillo, O.; Chang, TCP; Forghani, I.; Grajewski, A.; Isasi, R.; Lam, B.; Levitt, R.; Liu, XZ; McCauley, J.; Sacco, R.; Saporta, M.; Schaechter, J.; Tekin, M.; Telischi, F.; Thorson, W.; Zuchner, S.; Colley, HA; Dayal, JG; Eckstein, DJ; Findley, LC; Krasnewich, DM; Mamounas, LA; Manolio, TA; Mulvihill, JJ; LaMoure, GL; Goldrich, MP; Urv, TK; Doss, AL; Acosta, MT; Bonnenmann, C.; D’Souza, P.; Draper, DD; Ferreira, C.; Godfrey, RA; Groden, CA; Macnamara, EF; Maduro, VV; Markello, TC; Nath, A.; Novacic, D.; Pusey, BN; Toro, C.; Wahl, CE; Baker, E.; Burke, EA; Adams, DR; Gahl, WA; Malicdan, MCV; Tifft, CJ; Wolfe, LA; Yang, J.; Power, B.; Gochuico, B.; Huryn, L.; Latham, L.; Davis, J.; Mosbrook-Davis; Rossignol, F.; Solomon, B.; MacDowall, J.; Thurm, A.; Zein, W.; Yousef, M.; Adam, M.; Amendola, L.; Bamshad, M.; Beck, A.; Bennett, J.; Berg-Rood, B.; Blue, E.; Boyd, B.; Byers, P.; Chanprasert, S.; Cunningham, M.; Dipple, K.; Doherty, D.; Earl, D.; Glass, I.; Golden-Grant, K.; Hahn, S.; Hing, A.; Hisama, FM; Horike-Pyne, M.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Lam, C.; Maravilla, K.; Mefford, H.; Merritt, JL; Mirzaa, G.; Nickerson, D.; Raskind, W.; Rosenwasser, N.; Scott, CR; Sun, A.; Sybert, V.; Wallace, S.; Wener, M.; Wenger, T.; Ashley, EA; Bejerano, G.; Bernstein, JA; Bonner, D.; Coakley, TR; Fernandez, L.; Fisher, PG; Fresard, L.; Hom, J.; Huang, Y.; Kohler, JN; Kravets, E.; Majcherska, MM; Martin, BA; Marwaha, S.; McCormack, CE; Raja, AN; Reuter, CM; Ruzhnikov, M.; Sampson, JB; Smith, KS; Sutton, S.; Tabor, HK; Tucker, BM; Wheeler, MT; Zastrow, DB; Zhao, C.; Byrd, WE; Crouse, AB; Might, M.; Nakano-Okuno, M.; Whitlock, J.; Brown, G.; Butte, MJ; Dell’Angelica, EC; Dorrani, N.; Douine, ED; Fogel, BL; Gutierrez, I.; Huang, A.; Krakow, D.; Lee, H.; Loo, SK; Mak, BC; Martin, MG; Martínez-Agosto, JA; McGee, E.; Nelson, SF; Nieves-Rodriguez, S.; Palmer, CGS; Papp, JC; Parker, NH; Renteria, G.; Signer, RH; Sinsheimer, JS; Wan, J.; Wang, L-K.; Perry, KW; Woods, JD; Alvey, J.; Andrews, A.; Bale, J.; Bohnsack, J.; Botto, L.; Carey, J.; Pace, L.; Longo, N.; Marth, G.; Moretti, P.; Quinlan, A.; Velinder, M.; Viskochi, D.; Bayrak-Toydemir, P.; Mao, R.; Westerfield, M.; Bican, A.; Brokamp, E.; Duncan, L.; Hamid, R.; Kennedy, J.; Kozuira, M.; Newman, JH; PhillipsIII, JA; Rives, L.; Robertson, AK; Solem, E.; Cogan, JD; Cole, FS; Hayes, N.; Kiley, D.; Sisco, K.; Wambach, J.; Wegner, D.; Baldridge, D.; Pak, S.; Schedl, T.; Shin, J.; Solnica-Krezel, L.; Sadjadi, R.; Elpeleg, O.; Lee, C-H.; Bellen, HJ; Edvardson, S.; Eichler, F.; Dunn, TM
  Brain, 146, 4, 1420, 1435, Oxford University Press (OUP), 19 Apr. 2023, [Peer-reviewed]
  Scientific journal
• A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
  Spillmann, RC; Tan, QK-G.; Reuter, C.; Schoch, K.; Network, UD; Kohler, J.; Bonner, D.; Zastrow, D.; Alkelai, A.; Baugh, E.; Cope, H.; Marwaha, S.; Wheeler, MT; Bernstein, JA; Shashi, V.; Acosta, MT; Adam, M.; Adams, DR; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bellen, HJ; Bennet, J.; Berg-Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brokamp, E.; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H-T.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cooper, CM; Craigen, WJ; Crouse, AB; Cunningham, M.; D’Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Deardorff, M.; Dell’Angelica, EC; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Duncan, L.; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Esteves, C.; Falk, M.; Fernandez, L.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Godfrey, RA; Golden-Grant, K.; Goldrich, MP; Grajewski, A.; Gutierrez, I.; Hadley, D.; Hahn, S.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Introne; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra; Karaviti, L.; Kennedy, J.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Krakow, D.; Krasnewich, DM; Kravets, E.; Korrick, S.; Koziura, M.; Lalani, SR; Lam, B.; Lam, C.; LaMoure, GL; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Mahoney, R.; Mak, BC; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez-Agosto, JA; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, PM; Nakano-Okuno, M.; Nelson, SF; Newman, JH; Nicholas, SK; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Pusey, BN; Quinlan, A.; Raskind, W.; Raja, AN; Rao, DA; Raper, A.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, CR; Scott, DA; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solem, E.; Solnica-Krezel, L.; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, JA; Sullivan, K.; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tabor, HK; Tan, ALM; Tan, QK-G.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Tucker, BM; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Walker, M.; Wallace, S.; Walley, NM; Wambach, J.; Wan, J.; Wang, L-K.; Wangler, MF; Ward, PA; Wegner, D.; Weisz-Hubshman, M.; Wener, M.; Wenger, T.; Perry, KW; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zastrow, DB; Zhang, Z.; Zhao, C.; Zuchner, S.
  Genetics in Medicine, 25, 4, 100353, 100353, Elsevier, Apr. 2023, [Peer-reviewed]
  Scientific journal
• 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
  Limdi, NA; Absher, D.; Asif, I.; Bateman, L.; Barsh, G.; Bowling, KM; Cooper, GM; Davis, BH; East, KM; Finnila, CR; Goff, B.; Hiatt, S.; Kelly, M.; Kelley, WV; Korf, BR; Latner, DR; Lawlor, J.; May, T.; Might, M.; Moss, IP; Nakano-Okuno, M.; Osborne, T.; Sodeke, S.; Stout, A.; Thompson, ML
  Journal of Clinical and Translational Science, 7, s1, 100, 101, Cambridge University Press (CUP), Apr. 2023
  Scientific journal
• H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome
  Borja, N.; Borjas-Mendoza, P.; Bivona, S.; Peart, L.; Gonzalez, J.; Johnson, B.K.; Guo, S.; Yusupov, R.; Acosta, M.T.; Adam, M.; Adams, D.R.; Agrawal, P.B.; Alejandro, M.E.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Azamian, M.S.; Bacino, C.A.; Bademci, G.; Baker, E.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bennet, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonnenmann, C.; Bonner, D.; Botto, L.; Boyd, B.; Briere, L.C.; Brokamp, E.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Chang, T.C.P.; Chanprasert, S.; Chao, H.-T.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cooper, C.M.; Cope, H.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D{'}Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Deardorff, M.; Dell{'}Angelica, E.C.; Dhar, S.U.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Draper, D.D.; Duncan, L.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Esteves, C.; Falk, M.; Fernandez, L.; Ferreira, C.; Fieg, E.L.; Findley, L.C.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Fresard, L.; Gahl, W.A.; Glass, I.; Gochuico, B.; Godfrey, R.A.; Golden-Grant, K.; Goldman, A.M.; Goldrich, M.P.; Goldstein, D.B.; Grajewski, A.; Groden, C.A.; Gutierrez, I.; Hahn, S.; Hamid, R.; Hanchard, N.A.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Huryn, L.; Isasi, R.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Karaviti, L.; Kennedy, J.; Kiley, D.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Korrick, S.; Koziura, M.; Krier, J.B.; Lalani, S.R.; Lam, B.; Lam, C.; LaMoure, G.L.; Lanpher, B.C.; Lanza, I.R.; Latham, L.; LeBlanc, K.; Lee, B.H.; Lee, H.; Levitt, R.; Lewis, R.A.; Lincoln, S.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; MacDowall, J.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Majcherska, M.M.; Mak, B.C.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Markello, T.C.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Mart{\'i}nez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCormack, C.E.; McCray, A.T.; McGee, E.; Mefford, H.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.M.; Mosbrook-Davis, D.; Mulvihill, J.J.; Murdock, D.R.; Nagy, A.; Nakano-Okuno, M.; Nath, A.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.C.; Pallais, J.C.; Palmer; C.G.S.; Parker, N.H.; Phillips, J.A.; Posey, J.E.; Potocki, L.; Power, B.; Pusey, B.N.; Quinlan, A.; Raskind, W.; Raja, A.N.; Rao, D.A.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Samson, S.L.; Saporta, M.; Scott, C.R.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Shashi, V.; Shin, J.; Signer, R.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solem, E.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.C.; Stoler, J.M.; Sullivan, J.A.; Sullivan, K.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor, H.K.; Tan, A.L.M.; Tan, Q.K.G.; Tekin, M.; Telischi, F.; Thorson, W.; Thurm, A.; Tifft, C.J.; Toro, C.; Tran, A.A.; Tucker, B.M.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Wallace, S.; Walley, N.M.; Walsh, C.A.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Wener, M.; Wenger, T.; Perry, K.W.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Woods, J.D.; Yamamoto, S.; Yang, J.; Yousef, M.; Zastrow, D.B.; Zhao, C.; Zuchner, S.; Bademci, G.; Tekin, M.
  American Journal of Medical Genetics, Part A, 191, 7, 1911, 1916, Wiley, 2023
  Scientific journal
• HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
  Niggl, E.; Bouman, A.; Briere, L.C.; Hoogenboezem, R.M.; Wallaard, I.; Park, J.; Admard, J.; Wilke, M.; Harris-Moster; E.D.R.O.; Elgersma, M.; Bain, J.; Balasubramanian, M.; Banka, S.; Benke, P.J.; Bertrand, M.; Blesson, A.E.; Clayton-Smith, J.; Ellingford, J.M.; Gillentine, M.A.; Goodloe, D.H.; Haack, T.B.; Jain, M.; Krantz, I.; Luu, S.M.; McPheron, M.; Muss, C.L.; Raible, S.E.; Robin, N.H.; Spiller, M.; Starling, S.; Sweetser, D.A.; Thiffault, I.; Vetrini, F.; Witt, D.; Woods, E.; Zhou, D.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O?Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Acosta, M.T.; Adams, D.R.; Alvarez, R.L.; Alvey, J.; Allworth, A.; Andrews, A.; Ashley, E.A.; Afzali, B.; Bacino, C.A.; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bellen, H.J.; Bennet, J.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, T.C.; Chanprasert, S.; Chao, H.-T.; Chinn, I.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cope, H.; Corona, R.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D{'}Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Delgado, M.; Dell{'}Angelica, E.C.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Falk, M.; Fieg, E.L.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Fu, J.; Gahl, W.A.; Glass, I.; Goddard, P.C.; Godfrey, R.A.; Grajewski, A.; Halley, M.C.; Hamid, R.; Hanchard, N.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Hutchison, S.; Introne, W.; Isasi, R.; Izumi, K.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra, V.; Kaitryn, E.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Korrick, S.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Lalani, S.R.; Lam, B.; Lam, C.; Lanpher, B.C.; Lanza, I.R.; LeBlanc, K.; Lee, B.H.; Levitt, R.; Lewis, R.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Maghiro, A.; Mahoney, R.; Malicdan, M.C.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Mart{\'i}nez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, A.T.; McGee, E.; Might, M.; Miller, D.; Mirzaa, G.; Morava, E.; Moretti, P.; Morimoto, M.; Mulvihill, J.J.; Nakano-Okuno, M.; Nelson, S.F.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Papp, J.C.; Parker, N.H.; Petcharet, L.; Phillips, J.A.; Posey, J.E.; Potocki, L.; Swerdzewski, B.N.; Quinlan, A.; Rao, D.A.; Raper, A.; Raskind, W.; Renteria, G.; Reuter, C.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenthal, E.; Rossignol, F.; Ruzhnikov, M.; Sabaii, M.; Sacco, R.; Sampson, J.B.; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Seto, E.; Sharma, P.; Shashi, V.; Shelkowitz, E.; Sheppeard, S.; Shin, J.; Silverman, E.; Sinsheimer, J.; Sisco, K.; Smith, E.; Smith, K.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.; Stergachis, A.; Stoler, J.; Sullivan, K.; Sullivan, J.; Sutton, S.; Sybert, V.; Tabor, H.K.; nd Tan; Q.K.-G.; Tan, A.L.; Tarakad, A.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.; Toro, C.; Tran, A.A.; Ungar, R.A.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Walker, M.; Walley, N.M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Weisz, M.; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Yamamoto, S.; Zhang, Z.; Zuchner, S.; Elgersma, Y.; van Esbroeck; A.C.M.
  American Journal of Human Genetics, 110, 8, 1414, 1435, 2023, [Peer-reviewed]
  Scientific journal
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
  Morleo, M.; Venditti, R.; Theodorou, E.; Briere, L.C.; Rosello, M.; Tirozzi, A.; Tammaro, R.; Al-Badri, N.; High, F.A.; Shi, J.; Acosta, M.T.; Adam, M.; Adams, D.R.; Alvarez, R.L.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Bacino, C.A.; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bellen, H.J.; Bennett, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, T.C.P.; Chanprasert, S.; Chao, H.-T.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cooper, C.M.; Cope, H.; Corona, R.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D{'}Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Dell{'}Angelica, E.C.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Falk, M.; Fieg, E.L.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Gahl, W.A.; Glass, I.; Gochuico, B.; Goddard, P.C.; Godfrey, R.A.; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, M.C.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne, W.; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra, V.; Karaviti, L.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Lalani, S.R.; Lam, B.; Lam, C.; Lanpher, B.C.; Lanza, I.R.; LeBlanc, K.; Lee, B.H.; Levitt, R.; Lewis, R.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Maghiro, A.; Mahoney, R.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Mart{\'i}nez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, A.T.; McGee, E.; Mefford, H.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano-Okuno, M.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Palmer; C.G.S.; Papp, J.C.; Parker, N.H.; Phillips III, J.A.; Posey, J.E.; Potocki, L.; Pusey Swerdzewski, B.N.; Quinlan, A.; Rao, D.A.; Raper, A.; Raskind, W.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Scott, C.R.; Shashi, V.; Shin, J.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.C.; Stoler, J.M.; Sullivan, K.; Sullivan, J.A.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor; H.K.; and Tan; Q.K.-G.; Tan, A.L.M.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.J.; Toro, C.; Tran, A.A.; Ungar, R.A.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Walker, M.; Wallace, S.; Walley, N.M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Weisz Hubshman, M.; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.; Nigro, V.; Torella, A.; Spampanato, C.; Pinelli, M.; Banfi, S.; Varavallo, A.; Selicorni, A.; Mariani, M.; Massimello, M.; Daolio, C.; Capra, V.; Accogli, A.; Scala, M.; Leuzzi, V.; Nardecchia, F.; Galosi, S.; Mastrangelo, M.; Milani, D.; Vitiello, G.; Piluso, G.; Romano, C.; Failla, P.; Greco, D.; Pantaleoni, C.; Ciaccio, C.; D{'}Arrigo, S.; Brunetti Pierri, N.; Parenti, G.; Coppola, A.; Mattina, T.; Zollino, M.; Amenta, S.; Tummolo, A.; Santoro, C.; Grandone, A.; De Brasi, D.; Varone, A.; Garavelli, L.; Marini, C.; Bigoni, S.; Piscopo, C.; Trabacca, A.; De Rinaldis, M.; Peron, A.; Putti, E.; Ferrante, L.; Cetrangolo, V.; Walker, M.A.; Tenconi, R.; Iascone, M.; Mei, D.; Guerrini, R.; van der Smagt, J.; Kroes, H.Y.; van Gassen, K.L.I.; Bilal, M.; Umair, M.; Pingault, V.; Attie-Bitach, T.; Amiel, J.; Ejaz, R.; Rodan, L.; Agrawal, P.B.; Del Bene, F.; Franco, B.
  American Journal of Human Genetics, 110, 8, 1377, 1393, 2023, [Peer-reviewed]
  Scientific journal
• Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
  Shashi, V.; Schoch, K.; Ganetzky, R.; Muraresku, C.; Ganetzky, R.; Kranz, P.G.; Sondheimer, N.; Markert, M.L.; Valdez, P.; Markert, M.L.; Cope, H.; Sadeghpour, A.; Sadeghpour, A.; Roehrs, P.; Arbogast, T.; Davis, E.E.; Tyndall, A.V.; Ping-Yee Au, B.; Parboosingh, J.S.; Lamont, R.E.; Bernier, F.P.; Innes, A.M.; Esser, M.J.; Woodward, K.E.; Bernier, F.P.; Wright, N.A.M.; Benseler, S.M.; Parsons, S.J.; Innes, A.M.; El-Dairi, M.; Smith, E.C.; Tennison, M.; Davis, E.E.; Acosta, M.T.; Adam, M.; Adams, D.R.; Alvarez, R.L.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Bacino, C.A.; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bellen, H.J.; Bennett, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, L.C.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Cassini, T.; Peter Chang, T.C.; Chanprasert, S.; Chao, H.-T.; Chinn, I.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cope, H.; Corona, R.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D{'}Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Dell{'}Angelica, E.C.; Dickson, P.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Falk, M.; Fieg, E.L.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Gahl, W.A.; Glass, I.; Gochuico, B.; Goddard, P.C.; Godfrey, R.A.; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, M.C.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne, W.; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra, V.; Karaviti, L.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Lalani, S.R.; Lam, B.; Lam, C.; Lanpher, B.C.; Lanza, I.R.; LeBlanc, K.; Lee, B.H.; Levitt, R.; Lewis, R.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Maghiro, A.S.; Mahoney, R.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Mart{\'i}nez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, A.T.; McGee, E.; Mefford, H.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano-Okuno, M.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Palmer; C.G.S.; Papp, J.C.; Parker, N.H.; Phillips, J.A.; Posey, J.E.; Potocki, L.; Pusey Swerdzewski, B.N.; Quinlan, A.; Rao, D.A.; Raper, A.; Raskind, W.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Scott, C.R.; Seto, E.; Shashi, V.; Shin, J.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.C.; Stoler, J.M.; Sullivan, K.; Sullivan, J.A.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor, H.K.; and Tan; Q.K.-G.; Tan, A.L.M.; Tarakad, A.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.J.; Toro, C.; Tran, A.A.; Ungar, R.A.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Walker, M.; Wallace, S.; Walley, N.M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Hubshman, M.W.; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.
  Genetics in Medicine, 25, 9, 2023, [Peer-reviewed]
  Scientific journal
• Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
  Mohajeri, A.; Vaseghi-Shanjani, M.; Rosenfeld, J.A.; Yang, G.X.; Lu, H.; Sharma, M.; Lin, S.; Salman, A.; Waqas, M.; Sababi Azamian, M.; Worley, K.C.; Del Bel, K.L.; Kozak, F.K.; Rahmanian, R.; Biggs, C.M.; Hildebrand, K.J.; Lalani, S.R.; Nicholas, S.K.; Scott, D.A.; Mostafavi, S.; Van Karnebeek, C.; Henkelman, E.; Halparin, J.; Yang, C.L.; Armstrong, L.; Turvey, S.E.; Lehman, A.; Acosta, M.T.; Adam, M.; Adams, D.R.; Alvarez, R.L.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Bacino, C.A.; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bellen, H.J.; Bennett, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, L.C.; Brokamp, E.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, T.C.P.; Chanprasert, S.; Chao, H.-T.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Sessions Cole, F.; Colley, H.A.; Cooper, C.M.; Cope, H.; Corona, R.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D{'}Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Dell{'}Angelica, E.C.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Duncan, L.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Falk, M.; Fieg, E.L.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Gahl, W.A.; Glass, I.; Gochuico, B.; Goddard, P.C.; Godfrey, R.A.; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, M.C.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne, W.; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra, V.; Karaviti, L.; Kennedy, J.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Lalani, S.R.; Lam, B.; Lam, C.; Lanpher, B.C.; Lanza, I.R.; LeBlanc, K.; Lee, B.H.; Levitt, R.; Lewis, R.A.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Mahoney, R.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Martinez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, A.T.; McGee, E.; Mefford, H.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano-Okuno, M.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Palmer; C.G.S.; Papp, J.C.; Parker, N.H.; Phillips, J.A.; Posey, J.E.; Potocki, L.; Pusey Swerdzewski, B.N.; Quinlan, A.; Rao, D.A.; Raper, A.; Raskind, W.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenfeld, J.A.; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Scott, C.R.; Shashi, V.; Shin, J.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solem, E.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.C.; Stoler, J.M.; Sullivan, K.; Sullivan, J.A.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor; H.K.; and Tan; Q.K.-G.; Tan, A.L.M.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.J.; Toro, C.; Tran, A.A.; Ungar, R.A.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Walker, M.; Wallace, S.; Walley, N.M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Hubshman, M.W.; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.; Boycott, K.; Brudno, M.; Bernier, F.; Dyment, D.; Kernohan, K.; Innes, M.; Lamont, R.; Parboosingh, J.; Marshall, D.; Marshall, C.; Mendoza, R.; Dowling, J.; Hayeems, R.; Knoppers, B.
  Journal of Medical Genetics, 2023
  Scientific journal
• P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative*
  Kelley, W.; East, K.; Asif, I.; Bateman, L.; Cooper, G.; Davis, B.; Finnila, C.; Goff, B.; Kelly, M.; Moss, I.; Latner; D; Lawlor, J.; May, T.; Nakano-Okuno, M.; Osborne, T.; Sodeke, S.; Stout, A.; Thompson, M.; Barsh, G.; Limdi, N.; Might, M.; Korf, B.
  Genetics in Medicine Open, 1, 1, 100428, 100428, Elsevier, 2023, [Peer-reviewed]
  Scientific journal
• Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
  Bainbridge, MN; Mazumder, A.; Ogasawara, D.; Jamra, RA; Bernard, G.; Bertini, E.; Burglen, L.; Cope, H.; Crawford, A.; Derksen, A.; Dure, L.; Gantz, E.; Koch-Hogrebe, M.; Hurst, ACE; Mahida, S.; Marshall, P.; Micalizzi, A.; Novelli, A.; Peng, H.; Medicine, RCIFG; Rodriguez, D.; Robbins, SL; Rutledge, SL; Scalise, R.; Schließke, S.; Shashi, V.; Srivastava, S.; Thiffault, I.; Topol, S.; Acosta, MT; Adam, M.; Adams, DR; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, AH; Behrens, E.; Bejerano, G.; Bennet, J.; Berg-Rood, B.; Bernstein, JA; Berry, GT; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, LC; Brokamp, E.; Brown, G.; Burke, EA; Burrage, LC; Butte, MJ; Byers, P.; Byrd, WE; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, TCP; Chanprasert, S.; Chao, H-T.; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Coggins, M.; Cole, FS; Colley, HA; Cooper, CM; Cope, H.; Craigen, WJ; Crouse, AB; Cunningham, M.; D’Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, JG; Deardorff, M.; Dell’Angelica, EC; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, AL; Douine, ED; Duncan, L.; Earl, D.; Eckstein, DJ; Emrick, LT; Eng, CM; Esteves, C.; Falk, M.; Fernandez, L.; Fieg, EL; Fisher, PG; Fogel, BL; Forghani, I.; Gahl, WA; Glass, I.; Gochuico, B.; Godfrey, RA; Golden-Grant, K.; Goldrich, MP; Grajewski, A.; Gutierrez, I.; Hadley, D.; Hahn, S.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, FM; Holm, IA; Hom, J.; Horike-Pyne, M.; Huang, A.; Huang, Y.; Introne; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, GP; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra; Karaviti, L.; Kennedy, J.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, SN; Kohane, IS; Kohler, JN; Krakow, D.; Krasnewich, DM; Kravets, E.; Korrick, S.; Koziura, M.; Lalani, SR; Lam, B.; Lam, C.; LaMoure, GL; Lanpher, BC; Lanza, IR; LeBlanc, K.; Lee, BH; Levitt, R.; Lewis, RA; Liu, P.; Liu, XZ; Longo, N.; Loo, SK; Loscalzo, J.; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Mak, BC; Malicdan, MCV; Mamounas, LA; Manolio, TA; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, BA; Martin, MG; Martínez-Agosto, JA; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, AT; McGee, E.; Mefford, H.; Merritt, JL; Might, M.; Mirzaa, G.; Morava, E.; Moretti, PM; Nakano-Okuno, M.; Nelson, SF; Newman, JH; Nicholas, SK; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, JP; Pace, L.; Pak, S.; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Phillips, JA; Posey, JE; Potocki, L.; Pusey, BN; Quinlan, A.; Raskind, W.; Raja, AN; Rao, DA; Raper, A.; Renteria, G.; Reuter, CM; Rives, L.; Robertson, AK; Rodan, LH; Rosenfeld, JA; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, JB; Saporta, M.; Scott, CR; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, DA; Shashi, V.; Shin, J.; Silverman, EK; Sinsheimer, JS; Sisco, K.; Smith, EC; Smith, KS; Solem, E.; Solnica-Krezel, L.; Solomon, B.; Spillmann, RC; Stoler, JM; Sullivan, JA; Sullivan, K.; Sun, A.; Sutton, S.; Sweetser, DA; Sybert, V.; Tabor, HK; Tan, ALM; Tan, QK-G.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, CJ; Toro, C.; Tran, AA; Tucker, BM; Urv, TK; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, TP; Wahl, CE; Wallace, S.; Walley, NM; Walker, M.; Wambach, J.; Wan, J.; Wang, L-K.; Wangler, MF; Ward, PA; Wegner, D.; Weisz-Hubshman, M.; Wener, M.; Wenger, T.; Perry, KW; Westerfield, M.; Wheeler, MT; Whitlock, J.; Wolfe, LA; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zastrow, DB; Zhang, Z.; Zhao, C.; Zuchner, S.; Bellen, H.; Mahoney, R.; Qebibo, L.; Wieczorek, D.; Cravatt, B.; Haricharan, S.; Torkamani, A.; Friedman, J.
  Brain, 145, 10, 3383, 3390, Oxford University Press (OUP), 21 Oct. 2022, [Peer-reviewed]
  Scientific journal
• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
  Suma P. Shankar; Kristin Grimsrud; Louise Lanoue; Alena Egense; Brandon Willis; Johanna Hörberg; Lama AlAbdi; Klaus Mayer; Koray Ütkür; Kristin G. Monaghan; Joel Krier; Joan Stoler; Maha Alnemer; Prabhu R. Shankar; Raffael Schaffrath; Fowzan S. Alkuraya; Ulrich Brinkmann; Leif A. Eriksson; Kent Lloyd; Katherine A. Rauen; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel
  Genetics in Medicine, 24, 7, 1567, 1582, Jul. 2022, [Peer-reviewed]
  Scientific journal
• PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
  Christina L. Magyar; David R. Murdock; Lindsay C. Burrage; Hongzheng Dai; Seema R. Lalani; Richard A. Lewis; Yuezhen Lin; Marcela F. Astudillo; Jill A. Rosenfeld; Alyssa A. Tran; James B. Gibson; Carlos A. Bacino; Brendan H. Lee; Hsiao Tuan Chao; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey
  American Journal of Medical Genetics, Part A, 188, 6, 1868, 1874, Jun. 2022, [Peer-reviewed]
  Scientific journal
• Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
  Nicholas Borja; Stephanie Bivona; Lé Shon Peart; Brittany Johnson; Joanna Gonzalez; Deborah Barbouth; Henry Moore; Shengru Guo; Guney Bademci; Mustafa Tekin; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico
  Molecular Genetics and Genomic Medicine, 10, 4, 01 Apr. 2022, [Peer-reviewed]
  Scientific journal
• Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
  Kohler, JN; Glanton, E.; Boyd, BM; Sillari, CH; Marwaha, S.; Network, UD; Wheeler, MT
  Journal of Genetic Counseling, 31, 2, 326, 337, Wiley, Apr. 2022, [Peer-reviewed]
  Scientific journal
• Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics
  Halley, MC; Young, JL; Fernandez, L.; Kohler, JN; Network, UD; Bernstein, JA; Wheeler, MT; Tabor, HK
  American Journal of Medical Genetics Part A, 188, 4, 1088, 1101, Wiley, Apr. 2022, [Peer-reviewed]
  Scientific journal
• Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
  Allyn McConkie-Rosell; Kelly Schoch; Jennifer Sullivan; Rebecca C. Spillmann; Heidi Cope; Queenie K.G. Tan; Christina G.S. Palmer; Stephen R. Hooper; Vandana Shashi; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Rena A. Godfrey
  Journal of Genetic Counseling, 31, 1, 59, 70, Feb. 2022, [Peer-reviewed]
  Scientific journal
• Variable clinical severity in TANGO2 deficiency: Case series and literature review
  Jennifer Schymick; Peter Leahy; Tina Cowan; Maura R.Z. Ruzhnikov; Ryan Gates; Liliana Fernandez; Gopal Pramanik; Vamsi Yarlagadda; Matthew Wheeler; Jonathan A. Bernstein; Gregory M. Enns; Chung Lee; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass
  American Journal of Medical Genetics, Part A, 188, 2, 473, 487, Feb. 2022, [Peer-reviewed]
  Scientific journal
• The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
  Smitha Kumble; Amanda M. Levy; Jaya Punetha; Hua Gao; Nicholas Ah Mew; Kwame Anyane-Yeboa; Paul J. Benke; Sara M. Berger; Lise Bjerglund; Belinda Campos-Xavier; Michael Ciliberto; Julie S. Cohen; Anne M. Comi; Cynthia Curry; Lena Damaj; Anne Sophie Denommé-Pichon; Lisa Emrick; Laurence Faivre; Mary Beth Fasano; Alice Fiévet; Richard S. Finkel; Sixto García-Miñaúr; Amanda Gerard; Paulino Gomez-Puertas; Maria J. Guillen Sacoto; Trevor L. Hoffman; Lillian Howard; Alejandro D. Iglesias; Kosuke Izumi; Austin Larson; Anja Leiber; Reymundo Lozano; Iñigo Marcos-Alcalde; Cassie S. Mintz; Sureni V. Mullegama; Rikke S. Møller; Sylvie Odent; Henry Oppermann; Elsebet Ostergaard; Marta Pacio-Míguez; Maria Palomares-Bralo; Sumit Parikh; Anna M. Paulson; Konrad Platzer; Jennifer E. Posey; Lorraine Potocki; Anya Revah-Politi; Marlene Rio; Alyssa L. Ritter; Scott Robinson; Jill A. Rosenfeld; Fernando Santos-Simarro; Sérgio B. Sousa; Mathys Wéber; Yili Xie; Wendy K. Chung; Natasha J. Brown; Zeynep Tümer; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers
  Human Mutation, 43, 2, 266, 282, Feb. 2022, [Peer-reviewed]
  Scientific journal
• Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
  Paul C. Marcogliese; Debdeep Dutta; Shrestha Sinha Ray; Nghi D.P. Dang; Zhongyuan Zuo; Yuchun Wang; Di Lu; Fatima Fazal; Thomas A. Ravenscroft; Hyunglok Chung; Oguz Kanca; Ji Jun Wan; Emilie D. Douine; Loren D.M. Pena; Shinya Yamamoto; Stanley F. Nelson; Matthew Might; Kathrin C. Meyer; Nan Cher Yeo; Hugo J. Bellen; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk
  Science Advances, 8, 3, Jan. 2022, [Peer-reviewed]
  Scientific journal
• The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder
  Scott Barish; Mumine Senturk; Kelly Schoch; Amanda L. Minogue; Diego Lopergolo; Chiara Fallerini; Jake Harland; Jacob H. Seemann; Nicholas Stong; Peter G. Kranz; Sujay Kansagra; Mohamad A. Mikati; Joan Jasien; Mays El-Dairi; Paolo Galluzzi; Francesca Ariani; Alessandra Renieri; Francesca Mari; Michael F. Wangler; Swathi Arur; Yong Hui Jiang; Shinya Yamamoto; Vandana Shashi; Hugo J. Bellen; Steven Callens; Paul Coucke; Bart Dermaut; Dimitri Hemelsoet; Bruce Poppe; Wouter Steyaert; Wim Terryn; Rudy Van Coster; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar
  Human Molecular Genetics, 31, 7, 2934, 2950, 2022, [Peer-reviewed]
  Scientific journal
• Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
  Kimberly LeBlanc; Emily G. Kelley; Anna Nagy; Jorick Bater; Tala Berro; Molly A. McGuinness; Courtney Studwell; Matthew Might; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey
  Orphanet Journal of Rare Diseases, 16, 1, Dec. 2021, [Peer-reviewed]
  Scientific journal
• Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine (2021) 23(4) (740–750), (S1098360021024461), (10.1038/s41436-020-01027-3))
  Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan
  Genetics in Medicine, 23, 12, 2467, Dec. 2021
  Scientific journal
• “Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey
  Deuitch, NT; Beckman, E.; Halley, MC; Young, JL; Reuter, CM; Kohler, J.; Bernstein, JA; Wheeler, MT; Network, UD; Ormond, KE; Tabor, HK
  Journal of Genetic Counseling, 30, 6, 1707, 1718, Wiley, Dec. 2021, [Peer-reviewed]
  Scientific journal
• Physicians' Role in the COVID-19 Infodemic: A Reflection.
  Sydney B Blankenship; Mariko Nakano-Okuno; Rocksheng Zhong
  Southern medical journal, 114, 12, 812, 814, Dec. 2021, [Peer-reviewed], [Corresponding author], [International Magazine]
  English, Scientific journal
• 差別と侮辱 : ルッキズムとメタ倫理学—特集 ルッキズムを考える
  奥野 満里子
  現代思想, 49, 13, 157, 170, 東京 : 青土社, Nov. 2021, [Invited], [Lead author, Corresponding author]
  Japanese
• Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
  Thomas A. Ravenscroft; Jennifer B. Phillips; Elizabeth Fieg; Sameer S. Bajikar; Judy Peirce; Jeremy Wegner; Alia A. Luna; Eric J. Fox; Yi Lin Yan; Jill A. Rosenfeld; Jonathan Zirin; Oguz Kanca; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanya; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani
  Genetics in Medicine, 23, 10, 1889, 1900, Oct. 2021, [Peer-reviewed]
  Scientific journal
• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
  Lance H. Rodan; Rebecca C. Spillmann; Harley T. Kurata; Shawn M. Lamothe; Jasmine Maghera; Rami Abou Jamra; Anna Alkelai; Stylianos E. Antonarakis; Isis Atallah; Omer Bar-Yosef; Frédéric Bilan; Kathrine Bjorgo; Xavier Blanc; Patrick Van Bogaert; Yoav Bolkier; Lindsay C. Burrage; Björn U. Christ; Jorge L. Granadillo; Patricia Dickson; Kirsten A. Donald; Christèle Dubourg; Aviva Eliyahu; Lisa Emrick; Kendra Engleman; Michaela Veronika Gonfiantini; Jean Marc Good; Judith Kalser; Chiara Kloeckner; Guus Lachmeijer; Marina Macchiaiolo; Francesco Nicita; Sylvie Odent; Emily O’Heir; Xilma Ortiz-Gonzalez; Marta Pacio-Miguez; María Palomares-Bralo; Loren Pena; Konrad Platzer; Mathieu Quinodoz; Emmanuelle Ranza; Jill A. Rosenfeld; Eliane Roulet-Perez; Avni Santani; Fernando Santos-Simarro; Ben Pode-Shakked; Cara Skraban; Rachel Slaugh; Andrea Superti-Furga; Isabelle Thiffault; Richard H. van Jaabrsveld; Marie Vincent; Hong Gang Wang; Pia Zacher; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith
  Genetics in Medicine, 23, 10, 1922, 1932, Oct. 2021, [Peer-reviewed]
  Scientific journal
• Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Genetics in Medicine, (2021), 23, 10, (1922-1932), 10.1038/s41436-021-01232-8)
  Lance H. Rodan; Rebecca C. Spillmann; Harley T. Kurata; Shawn M. Lamothe; Jasmine Maghera; Rami Abou Jamra; Anna Alkelai; Stylianos E. Antonarakis; Isis Atallah; Omer Bar-Yosef; Frédéric Bilan; Kathrine Bjorgo; Xavier Blanc; Patrick Van Bogaert; Yoav Bolkier; Lindsay C. Burrage; Björn U. Christ; Jorge L. Granadillo; Patricia Dickson; Kirsten A. Donald; Christèle Dubourg; Aviva Eliyahu; Lisa Emrick; Kendra Engleman; Michaela Veronika Gonfiantini; Jean Marc Good; Judith Kalser; Chiara Kloeckner; Guus Lachmeijer; Marina Macchiaiolo; Francesco Nicita; Sylvie Odent; Emily O’Heir; Xilma Ortiz-Gonzalez; Marta Pacio-Miguez; María Palomares-Bralo; Loren Pena; Konrad Platzer; Mathieu Quinodoz; Emmanuelle Ranza; Jill A. Rosenfeld; Eliane Roulet-Perez; Avni Santani; Fernando Santos-Simarro; Ben Pode-Shakked; Cara Skraban; Rachel Slaugh; Andrea Superti-Furga; Isabelle Thiffault; Richard H. van Jaabrsveld; Marie Vincent; Hong Gang Wang; Pia Zacher; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith
  Genetics in Medicine, 23, 10, 2016, Oct. 2021
  Scientific journal
• Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
  Felix Marbach; Georgi Stoyanov; Florian Erger; Constantine A. Stratakis; Nikolaos Settas; Edra London; Jill A. Rosenfeld; Erin Torti; Chad Haldeman-Englert; Evgenia Sklirou; Elena Kessler; Sophia Ceulemans; Stanley F. Nelson; Julian A. Martinez-Agosto; Christina G.S. Palmer; Rebecca H. Signer; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Daya; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg
  Genetics in Medicine, 23, 8, 1465, 1473, Aug. 2021, [Peer-reviewed]
  Scientific journal
• A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
  Laura Keehan; Ming Ming Jiang; Xiaohui Li; Ronit Marom; Hongzheng Dai; David Murdock; Pengfei Liu; Jill V. Hunter; Jason D. Heaney; Laurie Robak; Lisa Emrick; Timothy Lotze; Lauren S. Blieden; Richard Alan Lewis; Alex V. Levin; Jenina Capasso; William J. Craigen; Jill A. Rosenfeld; Brendan Lee; Lindsay C. Burrage; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa Emrick; Christine M. Eng; Cecilia Esteves
  American Journal of Medical Genetics, Part A, 185, 8, 2315, 2324, Aug. 2021, [Peer-reviewed]
  Scientific journal
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
  Bradley Bowles; Alejandro Ferrer; Carla J. Nishimura; Filippo Pinto e Vairo; Tristan Rey; Bruno Leheup; Jennifer Sullivan; Kelly Schoch; Nicholas Stong; Emanuele Agolini; Dario Cocciadiferro; Abigail Williams; Alex Cummings; Sara Loddo; Silvia Genovese; Chelsea Roadhouse; Kirsty McWalter; Ingrid M. Wentzensen; Chumei Li; Dusica Babovic-Vuksanovic; Brendan C. Lanpher; Maria Lisa Dentici; Arun Ankala; J. Austin Hamm; Bruno Dallapiccola; Francesca Clementina Radio; Vandana Shashi; Benedicte Gérard; Agnes Bloch-Zupan; Richard J. Smith; Eric W. Klee; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple
  American Journal of Medical Genetics, Part A, 185, 8, 2417, 2433, Aug. 2021, [Peer-reviewed]
  Scientific journal
• PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
  Sugi Panneerselvam; Julia Wang; Wenmiao Zhu; Hongzheng Dai; John G. Pappas; Rachel Rabin; Karen J. Low; Jill A. Rosenfeld; Lisa Emrick; Rui Xiao; Fan Xia; Yaping Yang; Christine M. Eng; Anne Anderson; Vann Chau; Claudia Soler-Alfonso; Haley Streff; Seema R. Lalani; Saadet Mercimek-Andrews; Weimin Bi; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Esteban C. Dell'Angelica; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa Emrick; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira
  Clinical Genetics, 100, 2, 227, 233, Aug. 2021, [Peer-reviewed]
  Scientific journal
• Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
  Heidi Cope; Hayk Barseghyan; Surajit Bhattacharya; Yulong Fu; Nicole Hoppman; Cherisse Marcou; Nicole Walley; Catherine Rehder; Kristen Deak; Anna Alkelai; Eric Vilain; Vandana Shashi; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard
  Molecular Genetics and Genomic Medicine, 9, 7, Jul. 2021, [Peer-reviewed]
  Scientific journal
• Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
  Ilaria Parenti; Daphné Lehalle; Caroline Nava; Erin Torti; Elsa Leitão; Richard Person; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato; Kazuyuki Nakamura; Stella A. de Man; Heidi Cope; Vandana Shashi; Jennifer Friedman; Pascal Joset; Katharina Steindl; Anita Rauch; Irena Muffels; Peter M. van Hasselt; Florence Petit; Thomas Smol; Gwenaël Le Guyader; Frédéric Bilan; Arthur Sorlin; Antonio Vitobello; Christophe Philippe; Ingrid M.B.H. van de Laar; Marjon A. van Slegtenhorst; Philippe M. Campeau; Ping Yee Billie Au; Mitsuko Nakashima; Hirotomo Saitsu; Tatsuya Yamamoto; Yumiko Nomura; Raymond J. Louie; Michael J. Lyons; Amy Dobson; Astrid S. Plomp; M. Mahdi Motazacker; Frank J. Kaiser; Andrew T. Timberlake; Sabine A. Fuchs; Christel Depienne; Cyril Mignot; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper
  Human Genetics, 140, 7, 1109, 1120, Jul. 2021, [Peer-reviewed]
  Scientific journal
• Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
  Shilpa Nadimpalli Kobren; Dustin Baldridge; Matt Velinder; Joel B. Krier; Kimberly LeBlanc; Cecilia Esteves; Barbara N. Pusey; Stephan Züchner; Elizabeth Blue; Hane Lee; Alden Huang; Lisa Bastarache; Anna Bican; Joy Cogan; Shruti Marwaha; Anna Alkelai; David R. Murdock; Pengfei Liu; Daniel J. Wegner; Alexander J. Paul; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Daya; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk
  Genetics in Medicine, 23, 6, 1075, 1085, 01 Jun. 2021, [Peer-reviewed]
  Scientific journal
• Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
  Beattie R.H. Sturrock; Ellen F. Macnamara; Peter McGuire; Shannon Kruk; Ivan Yang; Jennifer Murphy; Cyndi J. Tifft; Eliza Gordon-Lipkin; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Rena A. Godfrey
  Molecular Genetics and Genomic Medicine, 9, 6, Jun. 2021, [Peer-reviewed]
  Scientific journal
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
  Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan
  Genetics in Medicine, 23, 4, 740, 750, Apr. 2021, [Peer-reviewed]
  Scientific journal
• Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice
  Studwell, CM; Glanton, E.; Network, UD; Sinsheimer, JS; Palmer, CGS; LeBlanc, K.
  Journal of Genetic Counseling, 30, 2, 439, 447, Wiley, Apr. 2021, [Peer-reviewed]
  Scientific journal
• A state-based approach to genomics for rare disease and population screening.
  Kelly M East; Whitley V Kelley; Ashley Cannon; Meagan E Cochran; Irene P Moss; Thomas May; Mariko Nakano-Okuno; Stephen O Sodeke; Jeffrey C Edberg; James J Cimino; Mona Fouad; William A Curry; Anna C E Hurst; Kevin M Bowling; Michelle L Thompson; E Martina Bebin; Robert D Johnson; Gregory M Cooper; Matthew Might; Gregory S Barsh; Bruce R Korf
  Genetics in medicine : official journal of the American College of Medical Genetics, 23, 4, 777, 781, Apr. 2021, [Peer-reviewed], [International Magazine]
  English, Scientific journal
• Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
  Schoch, K.; Esteves, C.; Bican, A.; Spillmann, R.; Cope, H.; McConkie-Rosell, A.; Walley, N.; Fernandez, L.; Kohler, JN; Bonner, D.; Reuter, C.; Stong, N.; Mulvihill, JJ; Novacic, D.; Wolfe, L.; Abdelbaki, A.; Toro, C.; Tifft, C.; Malicdan, M.; Gahl, W.; Liu, P.; Newman, J.; Goldstein, DB; Hom, J.; Sampson, J.; Wheeler, MT; Cogan, J.; Bernstein, JA; Adams, DR; McCray, AT; Shashi, V.
  Genetics in Medicine, 23, 2, 259, 271, Elsevier, Feb. 2021, [Peer-reviewed]
  Scientific journal
• DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
  Laura E. Meissner; Ellen F. Macnamara; Precilla D'Souza; John Yang; Gilbert Vezina; Carlos R. Ferreira; Wadih M. Zein; Cynthia J. Tifft; David R. Adams; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass
  Molecular Genetics and Genomic Medicine, 8, 12, Dec. 2020, [Peer-reviewed]
  Scientific journal
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
  Pauline E. Schneeberger; Fanny Kortüm; Georg Christoph Korenke; Malik Alawi; René Santer; Mathias Woidy; Daniela Buhas; Stephanie Fox; Jane Juusola; Majid Alfadhel; Bryn D. Webb; Emanuele G. Coci; Rami Abou Jamra; Manuela Siekmeyer; Saskia Biskup; Corina Heller; Esther M. Maier; Poupak Javaher-Haghighi; Maria F. Bedeschi; Paola F. Ajmone; Maria Iascone; Hilde Peeters; Katleen Ballon; Jaak Jaeken; Aroa Rodríguez Alonso; María Palomares-Bralo; Fernando Santos-Simarro; Marije E.C. Meuwissen; Diane Beysen; R. Frank Kooy; Henry Houlden; David Murphy; Mohammad Doosti; Ehsan G. Karimiani; Majid Mojarrad; Reza Maroofian; Lenka Noskova; Stanislav Kmoch; Tomas Honzik; Heidi Cope; Amarilis Sanchez-Valle; Bruce D. Gelb; Ingo Kurth; Maja Hempel; Kerstin Kutsche; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Gabriel F. Batzli; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Raphael Bernier; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole
  Brain, 143, 8, 2437, 2453, 01 Aug. 2020, [Peer-reviewed]
  Scientific journal
• Suitability and Sufficiency of Telehealth Clinician-Observed, Participant-Collected Samples for SARS-CoV-2 Testing: The iCollect Cohort Pilot Study
  Jodie L Guest; Patrick S Sullivan; Mariah Valentine-Graves; Rachel Valencia; Elizabeth Adam; Nicole Luisi; Mariko Nakano; Jeannette Guarner; Carlos del Rio; Charles Sailey; Zoe Goedecke; Aaron J Siegler; Travis H Sanchez
  JMIR Public Health and Surveillance, 25 Jun. 2020
  Scientific journal
• Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
  Thomas May; Ashley Cannon; Irene P Moss; Mariko Nakano-Okuno; Sharonda Hardy; Edrika L Miskell; Whitley V Kelley; William Curry; Kelly M East; Aras Acemgil; Julie Schach; Stephen O Sodeke; Mona N Fouad; Robert D Johnson; James Cimino; Jaimie L Richards; Sara J Knight; Bruce Korf
  Journal of genetic counseling, 29, 3, 471, 478, Jun. 2020, [Peer-reviewed], [International Magazine]
  English, Scientific journal, Lack of diversity among genomic research participants results in disparities in benefits from genetic testing. To address this, the Alabama Genomic Health Initiative employed community engagement strategies to recruit diverse populations where they lived. In this paper, we describe our engagement techniques and recruitment strategies, which resulted in significant improvement in representation of African American participants. While African American participation has not reached the representation of this community as a percentage of Alabama's overall population (26%-27%), we have achieved an overall representation exceeding 20% for African Americans. We believe this demonstrates the value of engagement and recruitment where diverse populations reside.
• Return of raw data in genomic testing and research: ownership, partnership, and risk-benefit.
  Thomas May; Mariko Nakano-Okuno; Whitley V Kelley; Kelly East; Irene Porter Moss; Stephen Sodeke; Bruce Korf; Greg Barsh
  Genetics in medicine : official journal of the American College of Medical Genetics, 22, 1, 12, 14, Jan. 2020, [Peer-reviewed], [International Magazine]
  English, Scientific journal
• Developing a professionalism curriculum on the nonmedical use of prescription stimulants among medical students.
  Suranjana Dey; Gabrielle Lindley; Elizabeth Ma; Caroline Harada; Mariko Nakano-Okuno
  International journal of medical education, 10, 193, 194, 25 Oct. 2019, [Peer-reviewed], [Last author], [International Magazine]
  English
• N-of-1 Precision Medicine and Research Oversight.
  Andrew Crouse; Mariko Nakano-Okuno; Matthew Might; Thomas May
  The American journal of bioethics : AJOB, 19, 8, 36, 37, Aug. 2019, [Peer-reviewed], [International Magazine]
  English, Scientific journal
• How the Atacama Skeleton Might Advance Discussion of Responsible Conduct of Research Responsibilities.
  Thomas May; Mariko Nakano-Okuno
  Human biology, 91, 1, 5, 8, 17 Feb. 2019, [Peer-reviewed], [Last author], [International Magazine]
  English, Scientific journal, Controversies resulting from genetic testing on skeletal remains of disputed stewardship raise important questions about obligations inherent on genetic researchers to assure ethical chain of custody. In this article, we analyze and evaluate several proposed positions on whether such research should be published. Following jurisprudential standards for legitimate regulatory systems, we argue that responsible conduct of research requires reasonable attention to chain of custody but cannot require guarantees, particularly in cases of ancient remains.
• Universalizability, impartiality and the expanding circle
  Mariko Nakano-Okuno
  Etica e Politica, 18, 1, 151, 167, 2016, [Peer-reviewed], [Lead author, Corresponding author]
  International conference proceedings
• EZH2 protects Glioma stem cells from radiation-induced cell death in a MELK/FOXM1-dependent manner
  Sung Hak Kim; Kaushal Joshi; Ravesanker Ezhilarasan; Toshia R. Myers; Jason Siu; Chunyu Gu; Mariko Nakano-Okuno; David Taylor; Mutsuko Minata; Erik P. Sulman; Jeongwu Lee; Krishna P.L. Bhat; Anna Elisabetta Salcini; Ichiro Nakano
  Stem Cell Reports, 4, 2, 226, 238, 10 Feb. 2015, [Peer-reviewed]
  Scientific journal
• Ethics of iPSC-based clinical research for age-related macular degeneration: patient-centered risk-benefit analysis.
  Mariko Nakano-Okuno; B Rashmi Borah; Ichiro Nakano
  Stem cell reviews and reports, 10, 6, 743, 52, Dec. 2014, [Peer-reviewed], [Lead author, Corresponding author], [International Magazine]
  English, Scientific journal
• Multi-kinase inhibitor c1 triggers mitotic catastrophe of glioma stem cells mainly through melk kinase inhibition
  Mutsuko Minata; Chunyu Gu; Kaushal Joshi; Mariko Nakano-Okuno; Christopher Hong; Chi Hung Nguyen; Harley I. Kornblum; Annie Molla; Ichiro Nakano
  PLoS ONE, 9, 4, 16 Apr. 2014, [Peer-reviewed]
  Scientific journal
• 精神外科の過去と現在－「人格改造」はどのような場合に非倫理的となるか
  奥野満里子
  慶應義塾大学医学部生命倫理セミナー, 3, 1, 37, 2013, [Invited], [Lead author, Corresponding author]
• 米国における「草の根運動」としてのES細胞研究推進運動－あるいは日本におけるその不在について
  奥野満里子
  応用倫理学研究, 1, 1, 19, 2004, [Invited], [Lead author, Corresponding author]
• Freedom of Will, Morality, and Responsibility : the marked Contrast between Sidgwick's Utilitarianism and Kantian Ethics
  Okuno Mariko
  哲學年報, 61, 75, 93, Kyushu University Faculty of Humanities, 20 Mar. 2002, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese
• The deepest discrepancies between Utilitarian and Kantian Ethics
  Okuno Mariko
  哲学論文集, 37, 1, 28, The Kyushu-daigaku Tetsugakukai, 25 Sep. 2001, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese, 序 第一節 対立の構図 第二節 道徳の最高原理 第三節 「同時に義務でもある目的」 第四節 根本的な主張の妥当性について 結語
• 小児医療と倫理
  奥野満里子
  小児内科, 33, 1, 99, 102, 2001, [Invited], [Lead author, Corresponding author]
• 診療記録の開示－プライバシーと電子化との関係
  奥野満里子
  Cyber Security Management, 2, 18, 65, 69, 2001, [Invited], [Lead author, Corresponding author]
• 診療記録の開示をめぐる議論-「カルテ等の診療情報の活用に関する検討会報告書」とジュリスト1142号特集「診療記録の開示と法制化の課題」-
  奥野満里子
  「情報倫理の構築(FINE)」プロジェクト, 2001, [Invited], [Lead author, Corresponding author]
• Parfit's Defence of Utilitarianism : A New Look from the Theory on Person and Personal Identity
  Okuno Mariko
  哲學研究, 565, 84, 100, THE KYOTO PHILOSOPHICAL SOCIETY (The Kyoto Tetsugaku-Kai), 10 Apr. 1998, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese, This paper deals with Derek Parfit's theory of personal identity, and with its bearing on utilitarianism. He is known as a 'defender' of utilitarianism, but we must ascertain in which sense he is so, and how we, following him, can defend utilitarianism. Utilitarianism has often been criticized that it does not take seriously the distinction between persons. For example, Rawls and Nozick criticized utilitarianism precisely on that ground, and Williams attacked utilitarianism by saying that it neglects the integrity of a person. But what is a person? What does 'personal identity' mean? In order to give a satisfactory reply to these criticisms, one must look to the theory of persons and personal identity. Hence, we begin by expounding Parfit's arguments on these topics in his Reasons and Persons (Part Three). First, introducing the concepts of person and personal identity, Parfit proposes two kinds of criteria for personal identity, i. e. the Physical and the Psychological. Then, he contrasts two views on the nature of a person, one (1) that a person's existence over time can be reduced into physical and psychological events and their interrelations (Reductionist), and another (2) which denies this (Non-Reductionist). Parfit advocates the former. And, as he propounds the arguments for Reductionism, which are at first sight extraordinary, but surely persuasive in the light of the knowledge of modern science, there emerges a consequence that some of our ordinary beliefs ―― that identity is crucial and it must be determinate ―― should be denied. If we accept this consequence, the criticism that utilitarianism does not take seriously the distinction between persons can be alleviated, because the utilitarian's point is that our concrete experiences are more fundamental than our personal identity. One of the effects of this result is that the anti-utilitarian views concerning the treatment of persons come to be re-examined. Roughly speaking, we should reconsider the following points : (1) the claim of inviolability of a person; (2) the objection to the 'balancing the gains and losses of different persons', the claim that 'someone's burden cannot be compensated by benefits to someone else', and distributive justice; and (3) the claim about desert and commitments. It will be shown that these points are bound either to be rejected or at least questioned, or to become much similar to, and almost substantially the same as, the utilitarian claims that the anti-utilitarians try to refute. In this sense, Parfit's theory surely serves as an indirect defence of utilitarianism. Besides this, it would be valuable to suggest that Parfit's insights also give us better understanding of R. M. Hare's moves for utilitarian theory, e.g. treatment of prudence, integrity, or knowledge of others' preferences. Thus, by our analyses, we can conclude that utilitarianism, especially Hare's, is well supported by Parfit's reflections on persons and personal identity.
• On the Comparison of the Strength of Preferences
  Okuno, Mariko
  STUDIEN ZUR PRAKTISCHEN PHILOSOPHIE (JISSENTETSUGAKU KENKYU), 21, 1, 21, 実践哲学研究会, 1998, [Lead author, Corresponding author]
  Japanese, Research institution
• シジウィックの快楽説再考
  奥野 満里子
  アルケー : 関西哲学会年報 / 関西哲学会 編, 6, 38, 48, 京都 : 関西哲学会 ; 1993-, 1998, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese, 資料形態 : テキストデータ プレーンテキスト
• 行為と欲求の合理性--R・B・ブラントの論議を手がかりに
  奥野 満里子
  倫理学研究 = Annals of ethical studies / 関西倫理学会 編, 28, 110, 122, 京都 : 関西倫理学会, 1998, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese, 資料形態 : テキストデータ プレーンテキスト
• Parfit's Defence of Utilitarianism : A New Look from the Theory on Person and Personal Identity
  Okuno Mariko
  哲學研究, 564, 81, 114, THE KYOTO PHILOSOPHICAL SOCIETY (The Kyoto Tetsugaku-Kai), 10 Oct. 1997, [Peer-reviewed], [Lead author, Corresponding author]
  Japanese, This paper deals with Derek Parfit's theory of personal identity, and with its bearing on utilitarianism. He is known as a 'defender' of utilitarianism, but we must ascertain in which sense he is so, and how we, following him, can defend utilitarianism. Utilitarianism has often been criticized that it does not take seriously the distinction between persons. For example, Rawls and Nozick criticized utilitarianism precisely on that ground, and Williams attacked utilitarianism by saying that it neglects the integrity of a person. But what is a person? What does 'personal identity' mean? In order to give a satisfactory reply to these criticisms, one must look to the theory of persons and personal identity. Hence, we begin by expounding Parfit's arguments on these topics in his Reasons and Persons (Part Three). First, introducing the concepts of person and personal identity, Parfit proposes two kinds of criteria for personal identity, i. e. the Physical and the Psychological. Then, he contrasts two views on the nature of a person, one (1) that a person's existence over time can be reduced into physical and psychological events and their interrelations (Reductionist), and another (2) which denies this (Non-Reductionist). Parfit advocates the former. And, as he propounds the arguments for Reductionism, which are at first sight extraordinary, but surely persuasive in the light of the knowledge of modern science, there emerges a consequence that some of our ordinary beliefs ―― that identity is crucial and it must be determinate ―― should be denied. If we accept this consequence, the criticism that utilitarianism does not take seriously the distinction between persons can be alleviated, because the utilitarian's point is that our concrete experiences are more fundamental than our personal identity. One of the effects of this result is that the anti-utilitarian views concerning the treatment of persons come to be re-examined. Roughly speaking, we should reconsider the following points : (1) the claim of inviolability of a person; (2) the objection to the 'balancing the gains and losses of different persons', the claim that 'someone's burden cannot be compensated by benefits to someone else', and distributive justice; and (3) the claim about desert and commitments. It will be shown that these points are bound either to be rejected or at least questioned, or to become much similar to, and almost substantially the same as, the utilitarian claims that the anti-utilitarians try to refute. In this sense, Parfit's theory surely serves as an indirect defence of utilitarianism. Besides this, it would be valuable to suggest that Parfit's insights also give us better understanding of R. M. Hare's moves for utilitarian theory, e.g. treatment of prudence, integrity, or knowledge of others' preferences. Thus, by our analyses, we can conclude that utilitarianism, especially Hare's, is well supported by Parfit's reflections on persons and personal identity.
• 共同体主義と医療倫理 (<研究報告> 共同体主義とはなにか )
  奥野, 満里子
  実践哲学研究, 18, 81, 88, 実践哲学研究会, 1995, [Lead author, Corresponding author]
  Japanese, Research institution
• Parfi's Argument about Persons and Personal Identity
  Okuno, Mariko
  STUDIEN ZUR PRAKTISCHEN PHILOSOPHIE (JISSENTETSUGAKU KENKYU), 18, 21, 39, 実践哲学研究会, 1995, [Lead author, Corresponding author]
  Japanese, Research institution, 資料形態 : テキストデータ プレーンテキスト
• パターナリズムとインフォームド・コンセント (<研究報告> 医療の倫理学)
  奥野, 満里子
  実践哲学研究, 17, 38, 45, 実践哲学研究会, 1994, [Lead author, Corresponding author]
  Japanese, Research institution

• 「 ウツクシイ 」 ッテ ナンダロウ
  奥野 満里子, 母の友, 857, 26, 28, Oct. 2024, [Invited]
  東京 : 福音館書店, Japanese
• こぼれおちるものを掬い上げる : 水谷雅彦先生のこと—特集 水谷雅彦教授のご退職に寄せて
  奥野 満里子, 実践哲学研究 = Studies for practical philosophy, 44, 94, 98, Oct. 2021
  京都 : 京都倫理学会, Japanese
• Bart Schultz, The Happiness Philosophers: The Lives and Works of the Great Utilitarians (Princeton: Princeton University Press, 2017), pp. 456.
  MARIKO NAKANO-OKUNO; MAKOTO SUZUKI; SATOSHI KODAMA, Utilitas, 30, 2, 248, 252, Jun. 2018, [Invited], [Lead author, Corresponding author]
  Cambridge University Press (CUP)
• [翻訳] ピーター・シンガー著『私たちはどう生きるべきか』
  Singer, Peter; 奥野, 満里子; 山内, 友三郎; 成田, 和信; 樫, 則章; 塩出, 彰; 村上, 弥生; 長岡, 成夫; (担当部分: 序、日本語版への序、第1、2章), Dec. 2013
  筑摩書房, Japanese
• [翻訳] 江口聡編・監訳『妊娠中絶の生命倫理 : 哲学者たちは何を議論したか』
  Noonan, John Thomas; 江口, 聡(担当部分:第八章、R. M. ヘア「妊娠中絶と黄金律」), Oct. 2011
  勁草書房, Japanese
• ロボトミー手術をめぐる倫理的論議の変遷－脳深部刺激の精神疾患応用への含意
  中野(奥野)満里子, 経済産業省NEDO 国際共同研究先導調査事業「ニューロサイエンスにおける安全性とわが国のライフサイエンス分野の研究活動への影響」研究調査報告, 2008
• [翻訳] T. L.ビーチャム & N. E. ボウイ編『企業倫理学１』
  Beauchamp, Tom L.; Bowie, Norman E.; 加藤, 尚武(担当部分:63-71、173-180), Jul. 2005
  晃洋書房, Japanese
• アイスランド『健康部門データベース法』の成立とその問題
  奥野満里子, 財団法人バイオインダストリー協会（経済産業省製造産業局生物化学産業課よりの委託事業）『平成14年度環境対応技術開発等（バイオ事業化に伴う生命倫理問題等に関する研究）に関する報告』, 120, 149, 2003
• book review－ピーター・シンガー著、樫則章訳『生と死の倫理』（昭和堂）
  奥野満里子, Emergency Nursing, 16, 2, 64, 2003, [Invited]
• 患者と市民への情報提供－英国とスウェーデンにおける理念と実践
  奥野満里子, 『情報倫理学研究資料集IV』（日本学術振興会未来開拓学術研究推進事業・電子社会システム部門「情報倫理の構築」プロジェクト編）, 58, 68, 2002
• アイスランドの診療記録・遺伝子・家系データベース－論議と教訓
  奥野満里子, 『情報倫理学研究資料集IV』（日本学術振興会未来開拓学術研究推進事業・電子社会システム部門「情報倫理の構築」プロジェクト編）, 84, 105, 2002
• book review－松川俊夫著『「なぜ」から学ぶ生命倫理学』（医学芸術社）
  奥野満里子, Emergency Nursing, 15, 1, 56, 2002
• book review－夏目漱石著『硝子戸の中』（新潮社）
  奥野満里子, Emergency Nursing, 15, 6, 56, 2002, [Invited]
• 部会研究例会報告要旨
  川添 美央子; 井上 弘貴; 森 達也; 名古 忠行; 奥野 満里子; 川名 雄一郎; 山中 優; 桜井 徹; 大澤 麦, イギリス哲学研究, 25, 117, 127, 2002
  日本イギリス哲学会, Japanese
• 人命論－生死の線引きをめぐる倫理問題
  奥野満里子, 高野山大学生命倫理研究会編『生と死』［高野山大学生命倫理講義録］, 29, 54, 2001
• book review－佐藤愛子著『血脈』（文芸春秋）
  奥野満里子, Emergency Nursing, 14, 10, 56, 2001, [Invited]
• [書評] Edwin N.Forman,Rosalind Ekman Ladd著、松田一郎訳『小児医療の生命倫理--ケーススタディ』診断と治療社、1998年 仁志田博司編『出生をめぐるバイオエシックス--周産期の臨床にみる「母と子のいのち」』MEDICAL VIEW社、1999年
  奥野 満里子, 倫理学研究 = Annals of ethical studies / 関西倫理学会 編, 30, 113, 119, Mar. 2000
  記事種別: 書評, 京都 : 関西倫理学会, Japanese
• 「道徳起源論から進化倫理学へ」についてのコメント－普遍化可能性要件の「見直し」がもたらすもの
  奥野満里子, 『情報倫理学研究資料集 II』日本学術振興会未来開拓学術研究推進事業・情報倫理の構築プロジェクト, 290, 295, 2000
• 小児医療における倫理問題
  奥野満里子, 京都大学倫理学研究室編『倫理学サーベイ論文集I』, 5, 19, 2000
• book review－辺見庸著『もの食う人々』（角川文庫）
  奥野満里子, Emergency Nursing, 13, 13, 49, 2000, [Invited]
• 医学・医療から見たＱＯＬ
  奥野満里子, 21世紀医学フォーラム編集委員会編『ＱＯＬを考える』, 24, 34, 1999
• いのちと倫理
  奥野満里子, 高野山大学生命倫理研究会編『生と死』［高野山大学生命倫理講義録］, 21, 48, 1999
• [書評] デレク・パーフィット著、森村進訳『理由と人格』（勁草書房）
  奥野 満里子, イギリス哲学研究, 22, 1999, [Invited]
  日本イギリス哲学会, Japanese
• 四つの常識的道徳規則と功利主義
  奥野満里子, 『功利主義の歴史的意義と現代的課題』平成7-9年度科学研究費補助金基盤研究(A) 研究成果報告書（研究代表者 永井義雄), 1998
• [書評] ピーター・シンガー著、樫則章訳『生と死の倫理』（昭和堂）
  奥野満里子, 日本生命倫理学会ニューズレター, 14, 6, 7, 1998, [Invited]
• [翻訳] R. M. ヘア著『道徳的に考えること : レベル・方法・要点』
  Hare, R. M. (Richard Mervyn); 内井, 惣七; 山内, 友三郎(担当部分:第5、6章), Apr. 1994
  勁草書房, Japanese

• 〔Major achievements〕Chapter 20: Risks and benefits of direct-to-consumer genetic testing in the reproductive context
  Mariko Nakano-Okuno; Crystal Lederhos Smith; Thomas May
  in: Hostiuc S. (ed.), Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies, Second Edition, Academic Press, 01 Jan. 2023, 9780443190452, 461-502, ［Internationally co-authored］, [Joint work]
• 〔Major achievements〕Kantian and Sidgwickian ethics : the cosmos of duty above and the moral law within
  Paytas, Tyler; Henning, Tim, “Kant and Sidgwick on the Freedom of Will, Morality, and Responsibility”
  Routledge, 2020, 9781138498099, vi, 255 p., 163-183, English, Scholarly book, ［Internationally co-authored］, [Joint work]
• 教養としての応用倫理学
  浅見, 昇吾; 盛永, 審一郎, 「医療情報とインフォームド・コンセント」「個人の遺伝子・ゲノム情報の取り扱い」「集団データベースの倫理問題」「医療過誤の情報と患者への伝達」
  丸善出版, Oct. 2013, 9784621086254, ix, 211p, Japanese, [Joint work]
• 〔Major achievements〕Sidgwick and contemporary utilitarianism
  Nakano-Okuno, Mariko
  Palgrave Macmillan, 2011, 9780230321786, xv, 270 p., English, [Single work]
• 脳神経倫理学の展望
  信原, 幸弘; 原, 塑, 「歴史にみる脳神経科学の倫理問題－骨相学、精神外科、そして現代」
  勁草書房, Aug. 2008, 9784326153978, xi, 343, xivp, 71-97, Japanese, [Joint work]
• 〔Major achievements〕Henry Sidgwick: Happiness and Religion
  Bucolo P.; Crisp R.; Schultz B., Sidgwick and Kant: On the So-called ‘Discrepancies’ between Utilitarian and Kantian Ethics
  Catania University Press, 2007, 259-333, English, Scholarly book, ［Internationally co-authored］, [Joint work]
• 現代倫理学事典
  大庭, 健; 井上, 達夫; 加藤, 尚武; 川本, 隆史; 神崎, 繁; 塩野谷, 祐一; 成田, 和信, 「クオリティ・オブ・ライフ」「功利主義」「シジウィック」「ミル、J.S.」
  弘文堂, Dec. 2006, 4335160402, xxviii, 1075p, Japanese, [Joint work]
• 生命倫理学と功利主義
  伊勢田, 哲治; 樫, 則章, ヒト胚の研究利用
  ナカニシヤ出版, May 2006, 9784779500329, xii, 264p, 48-73, Japanese, [Joint work]
• 『情報』岩波応用倫理学講義 3
  水谷, 雅彦; 吉田, 純; 白田, 秀彰; 江口, 聡; 奥野, 満里子; 服部, 高宏; 園田, 寿; 神崎, 宣次, セミナー４ 現代医療における情報問題－ポスト・ゲノム時代の医療・医科学研究と個人情報保護
  岩波書店, 08 Mar. 2005, 4000267167, 263, 124-144, Japanese, [Joint work]
• 医療情報と生命倫理
  越智, 貢; 板井, 孝壱郎, オーダーメイド医療の実現と集団データベース計画－アイスランド、エストニア、英国の経験から
  太陽出版, Feb. 2005, 4884694023, 412, iiip, 119-147, Japanese, [Joint work]
• 幸福と医学
  岡本, 道雄; 井村, 裕夫; 加茂, 直樹, 医学・医療から見たQOL
  岩波書店, Nov. 2004, 4000066102, vii, 158p, 54-76, Japanese, [Joint work]
• 哲学・思想翻訳語事典
  石塚, 正英; 柴田, 隆行, 「功利主義 (Utilitarianism)」
  論創社, 2003, 9784846003005, x, 353p, Japanese
• 情報倫理学 : 電子ネットワーク社会のエチカ
  越智, 貢; 土屋, 俊; 水谷, 雅彦, 診療記録の開示－その倫理的根拠、法制化、そして実践上の問題について
  ナカニシヤ出版, Jul. 2000, 4888485739, xii, 323p, 266-297, Japanese, [Joint work]
• 近代イギリス倫理学と宗教 : バトラーとシジウィック
  行安, 茂; 浜下, 昌宏; 三井, 礼子; 荻間, 寅男; 横山, 兼作; 島, 末広; 小田川, 大典; 柘植, 尚則; 奥野, 満里子; 大久保, 正健, バトラーとシジウィックの直覚主義
  晃洋書房, Dec. 1999, 4771011273, vi, 290, 23p, 204-223, Japanese, [Joint work]
• シジウィックと現代功利主義
  奥野, 満里子
  勁草書房, May 1999, 4326101253, ix, 313, 18p, Japanese
• 〔主要な業績〕生命倫理学を学ぶ人のために
  加藤, 尚武; 加茂, 直樹, 生命の神聖さと生命の質－概念の説明
  世界思想社, Jan. 1998, 9784790706908, xii, 350, iip, 129-142, Japanese, [Joint work]

• 〔Major achievements〕Medical Student Attitudes toward Abortion Care Education in a Restricted-Access State
  Catherine (Gracie) Meyer; Anne Zinski; Samantha Whitfield; Alexander Zayzafoon; Danielle Gershon; Shweta N. Patel; Tracey S. Wilson; Mariko Nakano-Okuno
  The 10th Annual Reproductive Ethics Conference hosted by the Hastings Center for Bioethics, 12 Mar. 2026, English, Poster presentation
  12 Mar. 2026 - 13 Mar. 2026
• 〔主要な業績〕猫のディレンマ－シジウィック博愛原理における『全体』とは何か
  奥野満里子
  日本イギリス哲学会第49回総会・研究大会シンポジウム「シジウィック『倫理学の方法』刊行150周年」、於神戸学院大学, 29 Mar. 2025, Invited oral presentation
  [Invited]
• Key contextual factors involved with participation in medical and genomic screening and research for African American and Caucasian Americans: A qualitative inquiry.
  Barks M.C.; Stark B.C.; Kobalter M.; Nakano-Okuno M.; Romesburg E.W.; Limdi N.; May T.; Smith C.L.
  American Public Health Association's 2024 Annual Meeting and Expo, Minneapolis, USA., 27 Oct. 2024
• Online Recruitment and Data Collection: How Prevalent is False Information?
  Hovland S.E.; Stark B.C.; Kobalter M.; Barks M.C.; Nakano-Okuno M.; Romesburg E.W.; Limdi N.; Schmidt A.; Smith C.
  WSU Spokane Inland Symposium, Spokane, WA., 24 Mar. 2024, Poster presentation
• 〔Major achievements〕Sidgwick on Effective Altruism
  Mariko Nakano-Okuno
  American Philosophical Association (APA) Pacific 2024, the Symposium on the 150th Anniversary of The Methods of Ethics (1874) by Henry Sidgwick, Portland, Oregon, USA, 21 Mar. 2024, Nominated symposium
  [Invited]
• 民間遺伝子検査の光と影、その倫理問題
  奥野満里子
  第194回京都大学応用哲学・倫理学センター（CAPE）レクチャー、於京都大学大学院文学研究科, 31 May 2023, Public discourse
• History and Politics of Human Experimentation
  Mariko Nakano-Okuno
  a guest lecture for the Bioethics and Law course, directed by Prof. David Smolin, J.D., Samford University, Birmingham, AL, 11 Jan. 2023, Public discourse
  [Invited]
• Integration of Genomics into Primary Care via the Alabama Genomic Health Initiative.
  Korf B.; Absher D.; Asif I.; Bateman L.; Bowling K.M.; Davis B.; East K.M.; Finnila C.; Goff B.; Kelly M.; Kelley W.; Latner D.R.; Limdi N.; May T.; Might M.; Moss I.P.; Stout A.; Osborne T.; Thompson M.L.; Sodeke S.; Nakano-Okuno M.; Cooper G.M.; Barsh G.
  The ACMG Annual Clinical Genetics Meeting, Nashville, TN, USA.
  22 Mar. 2022 - 26 Mar. 2022
• 功利主義と現代
  奥野満里子
  高知大学男女共同参画推進室ロールモデル講演会, 11 Jan. 2022, Public discourse
• A Point-Based COVID-19 Vaccine Allocation Strategy: Prioritizing Prevention of Community Transmission Over Prevention of High-Risk Infection
  Johnson B.; Nakano-Okuno M.; Zhong R.
  International Bioethics Retreat, hosted by Cambridge University and the Brain and Spine Institute
  08 Feb. 2021 - 11 Feb. 2021
• 生きて死んでゆく私たち
  奥野満里子
  高知大学男女共同参画推進室ロールモデル講演会, 12 Jan. 2021, Public discourse
• Correlation of Reported Family History and Identified Genomic Results in a State-Funded Population Screening Research Initiative
  Kelley W.V.; East K.M.; Cannon A.; Cochran M.E.; Greve V.; Moss I.P.; May T.; Nakano-Okuno M.; Sodeke S.O.; Edberg J.; Cimino J.J.; Fouad M.; Curry W.A.; Hurst A.C.E.; Bebin E.A.; Cooper G.M.; Might M.; Barsh G.S.; Korf B.R.
  National Society of Genetic Counselors Virtual Annual Conference
  18 Nov. 2020 - 22 Nov. 2020
• History and Politics of Human Experimentation
  Mariko Nakano-Okuno
  a guest lecture for the Bioethics and Law course, directed by Prof. David Smolin, J.D., Samford University, Birmingham, AL, 08 Jan. 2020, Public discourse
• Self-Reported Personal and Family History Among Participants in a Population-Based Genomic Research Initiative.
  Kelley W.V.; Cannon A.; East K.M.; Meagan E. C.; Veronica N. G.; Barsh G.S.; Bowling K.M.; Curry W.A.; Cooper G.M.; Fouad M.; Hurst A.C.; Korf B.R.; Sara J. K.; May T.; Might M.; Moss I.P.; Nakano-Okuno M.; Schach J.H.; Sodeke S.O.
  ACMG Annual Clinical Genetics meeting
  02 Apr. 2019 - 06 Apr. 2019
• The Alabama Genomic Health Initiative
  Korf B.R.; Barsh G.S.; Bowling K.M.; Cannon A.; Cimino J.; Cooper G.M.; Curry W.A.; East K.; Edberg J.; Fouad M.; Hurst A.C.; Might M.; Knight S.J.; May T.; Moss I.P.; Nakano-Okuno M.; Schach J.H.; Shaw B.M.; Sodeke S.O.
  ACMG Annual Clinical Genetics meeting
  02 Apr. 2019 - 05 Apr. 2019
• The Alabama Genomic Health Initiative
  Korf B.R.; Barsh G.S.; Bowling K.M.; Cannon A.; Cimino J.; Cooper G.M.; Curry W.A.; East K.; Edberg J.; Fouad M.; Hurst A.C.; Might M.; Knight S.J.; May T.; Moss I.P.; Nakano-Okuno M.; Schach J.H.; Shaw B.M.; Sodeke S.O.
  the American Society of Human Genetics meeting, San Diego, CA, USA., 17 Oct. 2018
• 尊厳死を考える
  奥野満里子
  医学総論IIIセミナー、於東京慈恵会医科大学, 13 Jul. 2018, Public discourse
• Ethics, Bioethics and Genomics
  奥野満里子
  第137回京都大学応用哲学・倫理学センター（CAPE）レクチャー、於京都大学大学院文学研究科, 10 Jul. 2018, Public discourse
• ピーター・シンガーの転向について－ヘア指令説から道徳的真理の実在説へ
  奥野満里子
  第78回京都大学応用哲学・倫理学センター（CAPE）レクチャー、於京都大学大学院文学研究科, 23 Jun. 2016, Public discourse
• 〔Major achievements〕Happiness and Well-being of Sentient Beings Reconsidered: A Case for Contractarian Utilitarianism
  Mariko Nakano-Okuno
  The 13th Conference of the International Society for Utilitarian Studies (ISUS XIII), Yokohama National University, Yokohama, Japan, 21 Aug. 2014, Keynote oral presentation
  [Invited]
• Ethics and Bioethics: From Regenerative Medicine & Neuroethics to Moral Philosophy
  Mariko Nakano-Okuno
  Biomedical Ethics Program, Mayo Clinic, Rochester, MN, USA., 05 Aug. 2014, Public discourse
• Bioethics and Experimental Therapeutics/Clinical Research
  Mariko Nakano-Okuno
  Integrated Biomedical Sciences Graduate Program (IBGP) 8510, Nationwide Children’s Hospital, Columbus, Ohio, 26 Feb. 2014, Public discourse
• 診療の倫理と研究の倫理
  奥野満里子
  大学院倫理セミナー、於東京慈恵会医科大学, 18 Jul. 2013, Public discourse
• “Scientific Misconduct in Biomedical Research,” “Conflict of Interest,” and “Human Subject Research”
  Mariko Nakano-Okuno
  Training Workshop on Responsible Conduct of Research for NIH Fogarty International Program on Molecular Epidemiology and Other Kay Issues of Foodborne Pathogens in Eastern Africa, VPH-Biotech Eastern Africa Consortium, Sisson Hall, The Ohio State University, 09 Nov. 2012, Public discourse
• 規範倫理学説を生命倫理に『応用』するとはどのようなことか－学生の迷回答例を参考に
  奥野満里子
  於南山大学社会倫理研究所, 14 Jul. 2012, Public discourse
• 功利主義、道徳の本性、動物倫理－倫理の普遍化可能性は必ずしも動物への配慮を要求しない
  奥野満里子
  第５回京都大学応用哲学・倫理学センター（CAPE）レクチャー、於京都大学大学院文学研究科, 10 Jul. 2012, Public discourse
• 精神外科の過去と現在－『人格改造』はどのような場合に非倫理的となるか
  奥野満里子
  第23回生命倫理セミナー、於慶應義塾大学医学部医学教育統括センター, 27 Jun. 2011, Public discourse
• Ethics in Neuroscience: Lessons from Lobotomy
  Mariko Nakano-Okuno
  The Ira W. DeCamp Bioethics Seminar, the University Center for Human Values, Princeton University, 05 Nov. 2008, Public discourse
  [Invited]
• R. M. ヘアの分析哲学と規範倫理学
  神戸大学大学院人文科学研究科集中講義, Public discourse
  12 Nov. 2007 - 16 Nov. 2007
• メタ倫理学入門
  奥野満里子
  九州大学大学院人文科学研究院集中講義, Public discourse
  23 Jan. 2006 - 27 Jan. 2006
• 進化論と道徳
  奥野満里子
  熊本大学教育学部集中講義, Public discourse
  03 Sep. 2002 - 06 Sep. 2003
• 人格同一性の哲学
  奥野満里子
  熊本大学教育学部集中講義, Public discourse
  25 Nov. 2001 - 28 Nov. 2001
• シジウィックの功利主義理論とカント倫理学との関係について
  奥野満里子
  日本イギリス哲学会例会報告、於九州大学法学部, 12 Nov. 2001
• 遺伝情報をめぐる倫理的問題
  奥野満里子
  九州大学哲学会シンポジウム「高度情報化社会と倫理」提題報告、於九州大学, 30 Sep. 2000
  [Invited]
• 小児がん患者・親に対応する医療担当者の倫理学
  奥野満里子
  近畿小児がん研究会（京都府立医科大学・滋賀医科大学教室開催）, 18 Mar. 2000, Public discourse
  [Invited]
• 患者と市民にとっての医療情報活用－カルテ開示から遺伝子カウンセリングまで
  奥野満里子
  日本病院管理学会学術総会指定研究会（専門領域別指定課題「医療情報の活用と病院における保獲管理に関する研究」）, 1999, Public discourse
  [Invited]
• 〔主要な業績〕医学・医療から見たＱＯＬ
  奥野満里子
  21世紀医学フォーラム・京都、於京都リサーチパーク, 26 Sep. 1998
  [Invited]
• ヒュームとシジウィックにおける『理性』
  奥野満里子
  ヒューム研究学会、於慶応大学, 01 Sep. 1998
• 四つの常識的道徳規則と功利主義
  奥野満里子
  現代功利主義研究会, 10 Nov. 1997
• シジウィックの快楽説再考
  奥野満里子
  関西哲学会、於香川大学, 10 Oct. 1997
• 実践哲学における『合理性』の概念－R. B. ブラントの定義の有効性
  奥野満里子
  関西倫理学会、於静岡大学, 17 Nov. 1996
• パーフィットの人格論とヘアの功利主義
  奥野満里子
  日本イギリス哲学会、於岡山大学, 31 Mar. 1996

• International Society for Utilitarian Studies (ISUS)
• American Society for Bioethics and Humanities (ASBH)
• 京都哲學會

• ELSCI and Governance as the Measures for the Era of Neurotechnology Native
  Science and Technology for Society Responsible Innovation with Conscience and Agility (RInCA)
  Oct. 2025 - Mar. 2029
  Tamami Fukushi
  Research Institute of Science and Technology for Society (RISTEX), Japan Science and Technology Agency (JST), Coinvestigator, JPMJRS25J2
• The Alabama Genomic Health Initiative
  Nov. 2018 - 2025
  Bruce Korf; Gregory Cooper; Nita Limdi
  The State of Alabama, University of Alabama at Birmingham, HudsonAlpha Institute for Biotechnology, Coinvestigator
• Integrating Genomic Risk Assessment for Chronic Disease Management in a Diverse Population
  2022 - 2023
  Limdi, Nita A.; Cimino, James J.
  NHGRI, University of Alabama at Birmingham, Coinvestigator not use grants, 3U01HG011167-03S1
• Developing an Interface for Science and Ethics (DISE)
  NSF Ethics Education in Science and Education (EESE) Program
  2008 - 2009
  Tarleton, Heather P.
  The National Science Foundation (NSF), University of California, Los Angeles, Coinvestigator not use grants
• 「実践的倫理学」の可能性――生端生命科学の倫理への理論的アプローチ
  科学研究費助成事業
  2003 - 2003
  中野 満里子
  日本学術振興会, 若手研究(B), 九州大学, 15720004
• 先端医療・医学研究の倫理、法律、政策に関する国際比較研究
  日本人研究者海外派遣事業助成
  2003
  中野(奥野)満里子
  ファイザーヘルスリサーチ振興財団, 九州大学, Principal investigator, 02B008
• 応用倫理学に対する功利主義的アプローチの研究
  科学研究費助成事業
  2001 - 2002
  中野 満里子
  本年度は、第一年度に収集した資料等を活用し、医科学研究、および医療情報の活用をめぐる倫理的問題について研究成果を三本の論文にまとめた。
  1.まず、アイスランドの医科学研究用複合データベース(家系・遺伝子・診療記録データベース)計画をめぐる論議について検討した。この計画に伴う倫理問題--個人情報の保護、インフォームド・コンセントの必要性、科学研究の自由の侵害など--を検討し、その教訓と今後の課題を明らかにするとともに、日本の疫学研究指針や遺伝子解析研究の指針についても今後考慮すべきだと思われる問題点を指摘した。またアイスランドで成立した関連法規も検討し、法の成立後も残される問題を明らかにした。
  2.さらに、診療録の開示等にみられる患者や市民への医療情報の提供のあり方について、英国とスウェーデンの実践例を参考に考察した。二国の取り組みの背後には「自律・自己決定の尊重」の理念があるとして、この理念の背景と意味を検討し、これらの国において自律の尊重とは、患者や市民にただ決定を任せ責任を負わせるものというより、むしろ「自己決定に必要な判断能力を向上・熟成させるためにも、積極的に患者や市民に情報を提供する」という形でとらえられ、積極的な情報提供の動きにつながっていることを指摘した。
  その他、本年度夏には米国に赴き、倫理学・政治哲学理論の専門的研究者と交流するとともに、遺伝子治療・研究や幹細胞研究など主に医科学研究にかかわる倫理的論議や環境問題をめぐる政策論議等について情報を収集し、倫理学理論と応用倫理学の両面の研究に役立てた。こうして得られた知識をもとに、現在は現代功利主義の入門書を執筆中である。その中では、功利主義倫理学の理論構造を明らかにするほか、医療倫理等の個々の社会問題に功利主義がいかに一貫した理論的アプローチをとりうるかを明らかにする予定である。
  日本学術振興会, 若手研究(B), 九州大学, 13710014
• 規範倫理学における諸理論の比較検討
  科学研究費助成事業
  Mar. 1998 - Apr. 1999
  奥野 満里子
  日本学術振興会, 特別研究員奨励費, 京都大学, 98J09091
• 倫理学の哲学的基礎づけに関する研究
  科学研究費 特別研究員奨励費
  Apr. 1995 - Mar. 1998
  奥野 満里子
  日本学術振興会, 京都大学

• [学会ワークショップ主催] 脳神経科学の倫理 ニューロエシックスの展開
  10 Nov. 2007
  Panel chair etc
  Competition etc
  第１９回日本生命倫理学会, 於大正大学

• Planning Committee, the Tuskegee-CCTS annual Bioethics Forum
  2016 - 31 Mar. 2025
  Planner, Organizing member
  Tuskegee University, Center for Clinical and Translational Sciences (CCTS) Partner Network
• The Power of Autonomy: Going beyond the Legacy of Distrust
  13 Nov. 2021
  Panelist
  Justice, Autonomy, and Beneficence (JAB) Initiative, the Virginia Interfaith Center for Public Policy, Virginia, USA
  A virtual panel discussion for the JAB Talk