De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Thierry Bienvenu(Inserm), Elise Fiala(Washington University in St. Louis), Sander Pajusalu(MACOM (United States)), Susan M. Hiatt(HudsonAlpha Institute for Biotechnology), D. Miramar(Centre Hospitalier Universitaire de Bordeaux), Valérie Layet(Université Le Havre Normandie), Renzo Guerrini(Meyer Children's Hospital), Julien Van‐Gils(Inserm), Dorothy K. Grange(Washington University in St. Louis), Julia Métreau(Université Paris-Saclay), Nathalie Le Meur(Établissement Français du Sang), Meghan Dumas(University of British Columbia), Alice Goldenberg(Université de Rouen Normandie), Florence Petit(Centre Hospitalier Universitaire de Lille), Patricia Fergelot(Inserm), Katrin Õunap(Tartu University Hospital), Laurence Faivre(Inserm), Gregory M. Cooper(HudsonAlpha Institute for Biotechnology), Massimiliano Rossi(Hospices Civils de Lyon), Amélie Piton(Centre National de la Recherche Scientifique), Mathilde Nizon(Centre National de la Recherche Scientifique), Anna Lehman(University of British Columbia), Aude Charollais(Université de Rouen Normandie), Eric W. Klee(Mayo Clinic), Wendy S. Meschino(North York General Hospital), Julien Thévenon(Centre National de la Recherche Scientifique), Wendy E. Smith(Maine Medical Center), Teresa Kruisselbrink(Mayo Clinic), Margot A. Cousin(Mayo Clinic), Johanna C. Herkert(University Medical Center Groningen), Ange‐Line Bruel(Inserm), Annalisa Vetro(University of Pavia), Daniel Amram(Centre Hospitalier Universitaire de Lille), Sandra Chantot‐Bastaraud(Fondation de Rothschild), Cara Inglese(University of Toronto), Cyril Mignot(Sorbonne Université), Sophie Nambot(Université de Bourgogne), Thomas Smol(Université de Lille), Olaf A. Bodamer(Broad Institute), Hilde Olivié(Maine Medical Center), Eitan S Kaplan(University of Washington), Brendan C. Lanpher(Vanderbilt University), Ghayda Mirzaa(University of Washington), Elizabeth Bhoj(Children's Hospital of Philadelphia), Anne‐Laure Mosca‐Boidron(Inserm), James J. Filiano(Dartmouth–Hitchcock Medical Center), Bénédicte Gérard(Hôpital Civil, Strasbourg), Odile Boute‐Bénéjean(Hôpital Jeanne de Flandre), Alice Masurel‐Paulet
European Journal of Human Genetics
January 31, 2020
Cited by 38


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