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Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
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; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101027- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101046- (2024)
Academic Journal
Tara Wenger; Alexandra Keefe; Lukas Kruidenier; Megan Sikes; Abbey Scott; Joon-Ho Yu; Kate MacDuffie; Kailyn Anderson; Olivia Sommers; Heidi Gildersleeve; Kati Buckingham; Jessica Chong; Katrina Dipple; David Veenstra; Dan Doherty; Daniel Miller; Deborah Copenheaver; Jane Juusola; Amy Snook; Chayna Davis; Kirsty McWalter; Paul Kruszka; Michael Bamshad
Genetics in Medicine Open, Vol 2, Iss , Pp 101091- (2024)
Academic Journal
Katrina Dipple; Daniel Doherty; Kailyn Anderson; Olivia Sommers; Tara Wenger; Kate MacDuffie; Alexandra Keefe; Abbey Scott; Lukas Kruidenier; Jamie Love-Nichols; Heidi Gildersleeve; Chayna Davis; Kati Buckingham; Jessica Chong; David Veenstra; Danny Miller; Deborah Copenheaver; Jane Juusola; Kyle Retterer; Kirsty McWalter; Paul Kruszka; Joon-Ho Yu; Michael Bamshad
Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)
Academic Journal
Wendy Chung; Alban Ziegler; Carrie Koval-Burt; Denise Kay; Sharon Suchy; Amber Bergtrup; Katherine Langley; Laura Amendola; Brenna Boyd; Jennifer Bradley; Tracy Brandt; Lilian Cohen; Alison Coffey; Joseph Devaney; Beata Dygulska; Bethany Friedman; Ramsey Fuleihan; Awura Gyimah; Rebecca Hernan; Sean Hofherr; Kathleen Hruska; Zhanzhi Hu; Mederic Jeanne; Guanjun Jin; Aaron Johnson; Haluk Kavus; Rudolph Leibel; Kirsty McWalter; Kristin Monaghan; Nicole Pimentel Soler; Yeyson Quevedo; Samantha Ratner; Kyle Retterer; Natasha Shapiro; Robert Sicko; Samuel Storm; Rebecca Torene; Olatundun Williams; Julia Wynn; Ryan Taft; Paul Kruszka; Michele Caggana
Genetics in Medicine Open, Vol 2, Iss , Pp 101369- (2024)
Academic Journal
Margot A. Cousin; Emma L. Veale; Nikita R. Dsouza; Swarnendu Tripathi; Robyn G. Holden; Maria Arelin; Geoffrey Beek; Mir Reza Bekheirnia; Jasmin Beygo; Vikas Bhambhani; Martin Bialer; Stefania Bigoni; Cyrus Boelman; Jenny Carmichael; Thomas Courtin; Benjamin Cogne; Ivana Dabaj; Diane Doummar; Laura Fazilleau; Alessandra Ferlini; Ralitza H. Gavrilova; John M. Graham; Tobias B. Haack; Jane Juusola; Sarina G. Kant; Saima Kayani; Boris Keren; Petra Ketteler; Chiara Klöckner; Tamara T. Koopmann; Teresa M. Kruisselbrink; Alma Kuechler; Laëtitia Lambert; Xénia Latypova; Robert Roger Lebel; Magalie S. Leduc; Emanuela Leonardi; Andrea M. Lewis; Wendy Liew; Keren Machol; Samir Mardini; Kirsty McWalter; Cyril Mignot; Julie McLaughlin; Alessandra Murgia; Vinodh Narayanan; Caroline Nava; Sonja Neuser; Mathilde Nizon; Davide Ognibene; Joohyun Park; Konrad Platzer; Céline Poirsier; Maximilian Radtke; Keri Ramsey; Cassandra K. Runke; Maria J. Guillen Sacoto; Fernando Scaglia; Marwan Shinawi; Stephanie Spranger; Ee Shien Tan; John Taylor; Anne-Sophie Trentesaux; Filippo Vairo; Rebecca Willaert; Neda Zadeh; Raul Urrutia; Dusica Babovic-Vuksanovic; Michael T. Zimmermann; Alistair Mathie; Eric W. Klee
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Academic Journal
Alexandra Keefe; Tara Wenger; Joon-Ho Yu; Megan Sikes; Luke Kruidenier; Abbey Scott; Kate McDuffie; Olivia Sommers; Heidi Gildersleeve; Chayna Davis; Paul Kruszka; Kati Buckingham; Jessica Chong; David Veenstra; Kyle Retterer; Kirsty McWalter; Amy Snook; Jane Juusola; Deborah Copenheaver; Danny Miller; Katrina Dipple; Kyle Brothers; Michael Bamshad
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100236- (2023)
Academic Journal
Tara Wenger; Alexandra Keefe; Megan Sikes; Luke Kruidenier; Joon-Ho Yu; Kate McDuffie; Olivia Sommers; Heidi Gildersleeve; Abbey Scott; Chayna Davis; Paul Kruszka; Kati Buckingham; Jessica Chong; Kyle Retterer; Kirsty McWalter; Amy Snook; Jane Juusola; Deborah Copenheaver; David Veenstra; Danny Miller; Katrina Dipple; Michael Bamshad
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100450- (2023)
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