De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean-Baptiste Rivière(Seattle Children's Hospital), William B. Dobyns(University of Minnesota), Angela E. Lin(Massachusetts General Hospital), Grazia M.S. Mancini(Erasmus MC), Christine M. Armour(University of Ottawa), Linlea Armstrong(University of British Columbia), Cheryl Cytrynbaum(Hospital for Sick Children), Beate Albrecht(Essen University Hospital), Sarah M. Nikkel(Children's Hospital of Eastern Ontario), Rosanna Weksberg(Hospital for Sick Children), Jeremy Schwartzentruber(McGill University and Génome Québec Innovation Centre), Jacek Majewski(McGill University), John M. Graham(Cedars-Sinai Medical Center), Thomas Ward(Seattle Children's Hospital), Wendy S. Meschino(North York General Hospital), James D. Reggin(Providence Sacred Heart Medical Center), A. Micheil Innes(University of Calgary), Dennis E. Bulman(University of Alberta), Karen W. Gripp(Alfred I. duPont Hospital for Children), Kym M. Boycott(Children's Hospital of Eastern Ontario), Beth A. Drolet(Medical College of Wisconsin), Christopher T. Sullivan(Seattle Children's Hospital), Tally Lerman‐Sagie(Tel Aviv University), Diana Alcantara(University of Sussex), Margaret Beddaoui(Children's Hospital of Eastern Ontario), Nancy Kramer(Cedars-Sinai Medical Center), Mark O’Driscoll(Sussex County Community College), Brian J. O’Roak(Oregon Health & Science University), Robert L. Conway(Michigan State University), Birgit Zirn(Genetikum), Jay Shendure(Brotman Baty Institute), Thea Worthylake(University of Ottawa), Ghayda Mirzaa(University of Washington), Chandree L. Beaulieu(University of Ottawa), Julie Lauzon(University of Calgary), Gökhan Uyanık(University Medical Center Hamburg-Eppendorf), Judith St‐Onge(Seattle Children's Hospital), Oana Caluseriu(University of Alberta), Anand Saggar(University of London), Hailly E Butler(Seattle Children's Hospital)
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