Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

the DDD study; Nadia Akawi; Jeremy F. McRae; Morad Ansari; Meena Balasubramanian; Moira Blyth; Angela F. Brady; Stephen Clayton; Trevor Cole; Charu Deshpande; Tomas Fitzgerald; Nicola Foulds; Richard Francis; George C. Gabriel; Sebastian S. Gerety; Judith Goodship; Emma Hobson; Wendy D. Jones; Shelagh Joss; Daniel A. King; Nikolai Klena; Ajith Kumar; Melissa Lees; Chris Lelliott; Jenny Lord; Dominic McMullan; Mary O’Regan; Deborah Osio; Virginia Piombo; Elena Prigmore; Diana Rajan; Elisabeth Rosser; Alejandro Sifrim; Audrey Smith; G. Jawahar Swaminathan; Peter D. Turnpenny; James W. Whitworth; Caroline F. Wright; Helen V. Firth; Jeffrey C. Barrett; Cecilia Lo; David Fitzpatrick; Matthew E. Hurles

doi:10.1038/ng.3410

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

the DDD study(Wellcome Sanger Institute), Nadia Akawi(Wellcome Sanger Institute), Jeremy F. McRae(Western General Hospital), Morad Ansari(National Health Service), Meena Balasubramanian(Chapel Allerton Hospital), Moira Blyth(Chapel Allerton Hospital), Angela F. Brady(London North West Healthcare NHS Trust), Stephen Clayton(Wellcome Sanger Institute), Trevor Cole(Guy's Hospital), Charu Deshpande(Guy's Hospital), Tomas Fitzgerald(Salisbury District Hospital), Nicola Foulds(University of Pittsburgh), Richard Francis(University of Pittsburgh), George C. Gabriel(University of Pittsburgh), Sebastian S. Gerety(Newcastle upon Tyne Hospitals NHS Foundation Trust), Judith Goodship(Chapel Allerton Hospital), Emma Hobson(Chapel Allerton Hospital), Wendy D. Jones(NHS Greater Glasgow and Clyde), Shelagh Joss(NHS Greater Glasgow and Clyde), Daniel A. King(University of Pittsburgh), Nikolai Klena(University of Pittsburgh), Ajith Kumar(Great Ormond Street Hospital for Children NHS Foundation Trust), Melissa Lees(Great Ormond Street Hospital for Children NHS Foundation Trust), Chris Lelliott(Wellcome Sanger Institute), Jenny Lord(Wellcome Sanger Institute), Dominic McMullan(NHS Greater Glasgow and Clyde), Mary O’Regan(Royal Devon & Exeter NHS Foundation Trust), Deborah Osio(Royal Devon & Exeter NHS Foundation Trust), Virginia Piombo(Wellcome Sanger Institute), Elena Prigmore(Wellcome Sanger Institute), Diana Rajan(Great Ormond Street Hospital for Children NHS Foundation Trust), Elisabeth Rosser(Great Ormond Street Hospital for Children NHS Foundation Trust), Alejandro Sifrim(Chapel Allerton Hospital), Audrey Smith(Chapel Allerton Hospital), G. Jawahar Swaminathan(Royal Devon & Exeter NHS Foundation Trust), Peter D. Turnpenny(Royal Devon & Exeter NHS Foundation Trust), James W. Whitworth(Wellcome Sanger Institute), Caroline F. Wright(Cambridge University Hospitals NHS Foundation Trust), Helen V. Firth(Cambridge University Hospitals NHS Foundation Trust), Jeffrey C. Barrett(University of Pittsburgh), Cecilia Lo(University of Pittsburgh), David Fitzpatrick(Western General Hospital), Matthew E. Hurles(Wellcome Sanger Institute)

Nature Genetics

October 5, 2015

10.1038/ng.3410

Cited by 163Open Access

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