Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang; Tomasz Gambin; Bo Yuan; Przemysław Szafrański; Jill A. Rosenfeld; Mohammed Al Balwi; Abdulrahman Alswaid; Lihadh Al‐Gazali; Aisha M. Al Shamsi; Makanko Komara; Bassam R. Ali; Elizabeth Roeder; Laura McAuley; Daniel Roy; David Manchester; Pilar Magoulas; Lauren E. King; Vickie Hannig; Dominique Bonneau; Anne‐Sophie Denommé‐Pichon; Majida Charif; Thomas Besnard; Stéphane Bezieau; Benjamin Cogné; Joris Andrieux; Wenmiao Zhu; Weimin He; Francesco Vetrini; Patricia A. Ward; Sau Wai Cheung; Weimin Bi; Christine M. Eng; James R. Lupski; Yaping Yang; Ankita Patel; Seema R. Lalani; Fan Xia; Paweł Stankiewicz

doi:10.1007/s00439-017-1763-1

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang(Baylor College of Medicine), Tomasz Gambin(Warsaw University of Technology), Bo Yuan(Baylor College of Medicine), Przemysław Szafrański(Baylor College of Medicine), Jill A. Rosenfeld(Baylor College of Medicine), Mohammed Al Balwi(King Abdulaziz Medical City), Abdulrahman Alswaid(King Abdulaziz Medical City), Lihadh Al‐Gazali(United Arab Emirates University), Aisha M. Al Shamsi(Tawam Hospital), Makanko Komara(United Arab Emirates University), Bassam R. Ali(United Arab Emirates University), Elizabeth Roeder(Baylor College of Medicine), Laura McAuley(Children's Medical Center), Daniel Roy(Tripler Army Medical Center), David Manchester(Children's Hospital Colorado), Pilar Magoulas(Baylor College of Medicine), Lauren E. King(Monroe Carell Jr. Children's Hospital), Vickie Hannig(Monroe Carell Jr. Children's Hospital), Dominique Bonneau(Centre National de la Recherche Scientifique), Anne‐Sophie Denommé‐Pichon(Centre National de la Recherche Scientifique), Majida Charif(Centre National de la Recherche Scientifique), Thomas Besnard(Génétique Médicale & Génomique Fonctionelle), Stéphane Bezieau(Génétique Médicale & Génomique Fonctionelle), Benjamin Cogné(Génétique Médicale & Génomique Fonctionelle), Joris Andrieux(Hôpital Jeanne de Flandre), Wenmiao Zhu(Baylor College of Medicine), Weimin He(Baylor College of Medicine), Francesco Vetrini(Baylor College of Medicine), Patricia A. Ward(Baylor College of Medicine), Sau Wai Cheung(Baylor College of Medicine), Weimin Bi(Baylor College of Medicine), Christine M. Eng(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Yaping Yang(Baylor College of Medicine), Ankita Patel(Baylor College of Medicine), Seema R. Lalani(Baylor College of Medicine), Fan Xia(Baylor College of Medicine), Paweł Stankiewicz(Baylor College of Medicine)

Human Genetics

March 1, 2017

10.1007/s00439-017-1763-1

Cited by 63

Abstract

Related Papers

No related papers found

Powered by citation graph analysis