De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière; Ghayda Mirzaa; Brian J. O’Roak; Margaret Beddaoui; Diana Alcantara; Robert L. Conway; Judith St‐Onge; Jeremy Schwartzentruber; Karen W. Gripp; Sarah M. Nikkel; Thea Worthylake; Christopher T. Sullivan; Thomas Ward; Hailly E Butler; Nancy Kramer; Beate Albrecht; Christine M. Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A. Drolet; A. Micheil Innes; Julie Lauzon; Angela E. Lin; Grazia M.S. Mancini; Wendy S. Meschino; James D. Reggin; Anand Saggar; Tally Lerman‐Sagie; Gökhan Uyanık; Rosanna Weksberg; Birgit Zirn; Chandree L. Beaulieu; Jacek Majewski; Dennis E. Bulman; Mark O’Driscoll; Jay Shendure; John M. Graham; Kym M. Boycott; William B. Dobyns

doi:10.1038/ng.2331

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), Ghayda Mirzaa(University of Chicago), Brian J. O’Roak(University of Washington), Margaret Beddaoui(Children's Hospital of Eastern Ontario), Diana Alcantara(University of Sussex), Robert L. Conway(Michigan State University), Judith St‐Onge(Seattle Children's Hospital), Jeremy Schwartzentruber(McGill University and Génome Québec Innovation Centre), Karen W. Gripp(Community Health Systems - Dupont Hospital), Sarah M. Nikkel(Children's Hospital of Eastern Ontario), Thea Worthylake(University of Ottawa), Christopher T. Sullivan(Seattle Children's Hospital), Thomas Ward(Seattle Children's Hospital), Hailly E Butler(Seattle Children's Hospital), Nancy Kramer(Cedars-Sinai Medical Center), Beate Albrecht(Essen University Hospital), Christine M. Armour(Queen's University), Linlea Armstrong(University of British Columbia), Oana Caluseriu(University of Calgary), Cheryl Cytrynbaum(Hospital for Sick Children), Beth A. Drolet(Medical College of Wisconsin), A. Micheil Innes(University of Calgary), Julie Lauzon(University of Calgary), Angela E. Lin(Massachusetts General Hospital), Grazia M.S. Mancini(Erasmus MC), Wendy S. Meschino(North York General Hospital), James D. Reggin(Providence Sacred Heart Medical Center), Anand Saggar(University of London), Tally Lerman‐Sagie(Wolfson Medical Center), Gökhan Uyanık(University Medical Center Hamburg-Eppendorf), Rosanna Weksberg(Hospital for Sick Children), Birgit Zirn(University of Göttingen), Chandree L. Beaulieu(University of Ottawa), Jacek Majewski(McGill University), Dennis E. Bulman(Ottawa Hospital), Mark O’Driscoll(University of Sussex), Jay Shendure(University of Washington), John M. Graham(Cedars-Sinai Medical Center), Kym M. Boycott(Children's Hospital of Eastern Ontario), William B. Dobyns(University of Washington)

Nature Genetics

June 24, 2012

10.1038/ng.2331

Cited by 750Open Access

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