Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas(Inserm), Giulia Barcia(Hôpital Necker-Enfants Malades), Hane Lee(Orion Corporation (United Kingdom)), Adam Jackson(Sanford Health), Maha S. Zaki(National Research Centre), Marion Lesieur‐Sebellin(Hôpital Necker-Enfants Malades), Mohammad Ayman Alkhateeb(Hamad Medical Corporation), Umar Bin Mohamad Sahari(Agency for Science, Technology and Research), François Girodon(Inserm), Eva Trochu(Génétique Médicale & Génomique Fonctionelle), Virginie Vignard(Centre National de la Recherche Scientifique), Thomas Besnard(Génétique Médicale & Génomique Fonctionelle), Beom Hee Lee(Ulsan College), Huma Arshad Cheema(University of Health Sciences Lahore), Mona A.M. Awad(National Research Centre), Jennifer Kerkhof(London Health Sciences Centre), Kristina Zhelcheska(National Hospital for Neurology and Neurosurgery), Go Hun Seo(Ulsan College), Salem Alawbathani(University of Cologne), Jorge Pinto‐Basto(Centogene (Germany)), Kisang Kwon, Nadeem Anjum(Capital University of Science and Technology), David Sievert(University of California San Diego), Imran Ali Khan(King Saud Medical City), Siddharth Banka(University of Manchester), Julien Paccaud(Inserm), Hyunwoo Bae(Ulsan College), Ange‐Line Bruel(Inserm), Andrea Ciolfi(Bambino Gesù Children's Hospital), Marialetizia Motta(Bambino Gesù Children's Hospital), Fatima El It(Inserm), Mélanie Pannetier(Université de Tours), Laurence Duplomb(Inserm), Rami Abou Jamra(Leipzig University), Anne‐Sophie Denommé‐Pichon(Inserm), Henry Houlden(University College London), Aymeric Masson(Inserm), Joyce Teoh(Agency for Science, Technology and Research), Joseph G. Gleeson(Howard Hughes Medical Institute), Haley McConkey(Western University), Benjamin Cogné(Centre National de la Recherche Scientifique), Yannis Duffourd(Radboud University Nijmegen), Thierry Gautier(Institut pour l'avancée des biosciences), Émilie Tisserant(Inserm), Lance H. Rodan(Boston Children's at Waltham), Anjum Saeed(University of Health Sciences Lahore), Anand Saggar(University of London), Jasmine C. Wong(University of California, San Francisco), Meriel McEntagart(St George's Hospital), Odile Boespflug‐Tanguy(Centre National de la Recherche Scientifique)
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