Exome & General Genetics/Neurology

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

  • Authors: Joery den Hoed; Elke de Boer; Norine Voisin; Alexander J M Dingemans; Nicolas Guex; Laurens Wiel; Christoffer Nellaker; Shivarajan Manickavasagam Amudhavalli; Siddharth Banka; Frederique S Bena; Bruria Ben-Zeev; Vincent R Bonagura; Ange-Line Bruel; Theresa Brunet; Han G. Brunner; Hui B Chew; Jacqueline Chrast; Loreta Cimbalistienė; Hilary Coon; Emmanuèlle C Délot; Florence Démurger; Anne-Sophie Denommé-Pichon; Christel Depienne; Dian Donnai; David A Dyment; Orly Elpeleg; Laurence Faivre; Christian Gilissen; Leslie Granger; Benjamin Haber; Yasuo Hachiya; Yasmin Hamzavi Abedi; Jennifer Hanebeck; Jayne Y Hehir-Kwa; Brooke Horist; Toshiyuki Itai; Adam Jackson; Rosalyn Jewell; Kelly L Jones; Shelagh Joss; Hirofumi Kashii; Mitsuhiro Kato; Anja A Kattentidt-Mouravieva; Fernando Kok; Urania Kotzaeridou; Vidya Krishnamurthy; Vaidutis Kučinskas; Alma Kuechler; Alinoë Lavillaureix; Pengfei Liu; Linda Manwaring; Naomichi Matsumoto; Benoît Mazel; Kirsty McWalter; Vardiella Meiner; Mohamad A Mikati; Satoko Miyatake; Takeshi Mizuguchi; Lip H Moey; Shehla Mohammed; Hagar Mor-Shaked; Hayley Mountford; Ruth Newbury-Ecob; Sylvie Odent; Laura Orec; Matthew Osmond; Timothy B Palculict; Michael Parker; Andrea K Petersen; Rolph Pfundt; Eglė Preikšaitienė; Kelly Radtke; Emmanuelle Ranza; Jill A Rosenfeld; Teresa Santiago-Sim; Caitlin Schwager; Margje Sinnema; Lot Snijders Blok; Rebecca C Spillmann; Alexander P.A. Stegmann; Isabelle Thiffault; Linh Tran; Adi Vaknin-Dembinsky; Juliana H Vedovato-Dos-Santos; Samantha A Schrier Vergano; Eric Vilain; Antonio Vitobello; Matias Wagner; Androu Waheeb 64, 42, 65, 66, 48, 2, 3, 67,; Marcia Willing; Britton Zuccarelli; Usha Kini; Dianne F Newbury; Tjitske Kleefstra; Alexandre Reymond; Simon E Fisher; Lisenka E.L.M. Vissers
  • Collaborators: Baylor College of Medicine; Center for Children New York University Hospital for Joint Diseases; Chapel Allerton Hospital; Children's Hospital of Eastern Ontario Research Institute; Children's Hospital of The King's Daughters; Children's Mercy Hospital Kansas City; CHU Dijon Bourgogne; Donald and Barbara Zucker School of Medicine at Hofstra; Duke University School of Medicine; GeneDx; Geneva University Hospitals; George Washington University; Guy's and St Thomas' NHS Foundation Trust; Hadassah-Hebrew University Medical Center; Heidelberg University Hospital; Human Genetics Department, Radboud University Medical Center; Maastricht University Medical Center; Manchester University NHS Foundation Trust; Max Planck Institute for Psycholinguistics; North Bristol NHS Trust; Pediatrics & Genetics, Alpharetta; Penang General Hospital; Princess Maxima Center for Pediatric Oncology; Queen Elizabeth University Hospital; Radboudumc Nijmegen; Randall Children's Hospital at Legacy Emanuel Medical Center; São Paulo University; Service de Génétique Clinique, CHU Rennes; Sheffield Children's Hospital; Showa University Hospital; Technical University of Munich; Tel Aviv University; Tokyo Metropolitan Neurological Hospital; University of Duisburg-Essen; University of Kansas School of Medicine Salina Campus; University of Lausanne; University of Manchester; University of Missouri-Kansas City School of Medicine; University of Oxford; University of Utah; Vannes hospital; Vilnius University Hospital Santariskiu Clinics; Washington University School of Medicine, St. Louis Children’s Hospital; Wellcome Trust Sanger Institute; Yokohama City University Graduate School of Medicine; Zuidwester
  • Journal: American journal of human genetics
  • Date: 2021 - Feb

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