Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak(University of Bonn), Roy N. Alcalay(Columbia University), Boris Keren(Sorbonne Université), Sandra T. Cooper(Children's Medical Research Institute), Omar Dabbagh(King Faisal Specialist Hospital & Research Centre), Emily C. Oates(The University of Sydney), Enrico Mingardo(University of Bonn), Wendy K. Chung(Oregon Health & Science University), Bhanupriya Dhabhai(Mohanlal Sukhadia University), Ilaria Guella(University of British Columbia), Julien Buratti(Sorbonne Université), Dana Marafi(Kuwait University), Stéphanie Efthymiou(Queen Mary University of London), Andreas Ziegler(Heidelberg University), Solveig Heide(Sorbonne Université), Caroline Nava(Centre National de la Recherche Scientifique), Kristi Jones(South Australia Pathology), Natalia Dominik(National Hospital for Neurology and Neurosurgery), Jawid M. Fatih(Baylor College of Medicine), Hölger Thiele(Leipzig Heart Institute), Jaya Punetha(Children's National), Elise Valkanas(Broad Institute), Farah Bibi(Pir Mehr Ali Shah Arid Agriculture University), Julia Hoefele(Institute of Human Genetics), Haktan Bağış Erdem(Sağlık Bilimleri Üniversitesi), Leigh B. Waddell(The University of Sydney), Michelle Demos(University of British Columbia), Zeynep Coban‐Akdemir(Baylor College of Medicine), Matias Wagner(Helmholtz Zentrum München), Jeshurun C. Kalanithy(University of Bonn), Ender Karaca(Baylor College of Medicine), Hessa S. Alsaif(King Faisal Specialist Hospital & Research Centre), Tikam Chand Dakal(Mohanlal Sukhadia University), Shalini N. Jhangiani(Baylor College of Medicine), Henry Houlden(Queen Mary University of London), Steffen Syrbe(Heidelberg University), Reza Maroofian(University College London), Fowzan S. Alkuraya(Alfaisal University), Perrine Charles(School of the Art Institute of Chicago), Volkan Okur(MACOM (United States)), Jill V. Hunter(Baylor College of Medicine), Tadahiro Mitani(Baylor College of Medicine), Korbinian M. Riedhammer(Boston Children's Hospital), Tipu Sultan(Cukurova University), Sarah A. O’Shea(Columbia University), Vincenzo Salpietro(University College London), Delphine Héron(Sorbonne Université), Daniel G. MacArthur(Garvan Institute of Medical Research), Shahzad Haider(University of Wah), Konrad Platzer(Leipzig University)
Genetics in Medicine
May 30, 2021
Cited by 38


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