A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark(The University of Melbourne), Susan M. White(The University of Melbourne), Maie Walsh(Murdoch Children's Research Institute), Joy Yaplito‐Lee(Royal Children's Hospital), Paul A. James(The Royal Melbourne Hospital), Monique M. Ryan(Royal Children's Hospital), Heidi Peters(Royal Children's Hospital), Ivan Macciocca(Murdoch Children's Research Institute), Lilian Downie(Murdoch Children's Research Institute), Simon Sadedin(Murdoch Children's Research Institute), Belinda Chong(New South Wales Department of Health), Clara Gaff(The University of Melbourne), Tiong Yang Tan(Royal Children's Hospital), Richard J. Leventer(Royal Children's Hospital), Katrina M. Bell(Murdoch Children's Research Institute), Christiane Theda(Royal Women's Hospital), Charlotte Anderson(The University of Melbourne), Natalie Thorne(The University of Melbourne), Dylan Mordaunt(Royal Children's Hospital), Alicia Oshlack(Murdoch Children's Research Institute), Shannon Cowie(Murdoch Children's Research Institute), David J. Amor(The University of Melbourne), Alison Yeung(Murdoch Children's Research Institute), George McGillivray(Murdoch Children's Research Institute), Peter Georgeson(The University of Melbourne), Paul G. Ekert(The University of Melbourne), Emma Creed(The Royal Melbourne Hospital), Ravi Savarirayan(Royal Children's Hospital), Patrick Yap(Murdoch Children's Research Institute), Gemma R. Brett(The University of Melbourne)
Genetics in Medicine
March 3, 2016
Cited by 411


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