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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Nature Genetics, Volume 41, No. 5, Year 2009
Notification
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Description
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence. © 2009 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Tarpey, Patrick S.
United Kingdom, Hinxton
Wellcome Sanger Institute
Smith, Raffaella
United Kingdom, Hinxton
Wellcome Sanger Institute
Pleasance, Erin D.
United Kingdom, Hinxton
Wellcome Sanger Institute
Whibley, Annabel C.
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Edkins, Sarah J.
United Kingdom, Hinxton
Wellcome Sanger Institute
Hardy, Claire
United Kingdom, Hinxton
Wellcome Sanger Institute
O'Meara, Sarah
United Kingdom, Hinxton
Wellcome Sanger Institute
Latimer, Calli
United Kingdom, Hinxton
Wellcome Sanger Institute
Dicks, Ed M.
United Kingdom, Hinxton
Wellcome Sanger Institute
Menzies, Andrew
United Kingdom, Hinxton
Wellcome Sanger Institute
Stephens, Philip J.
United Kingdom, Hinxton
Wellcome Sanger Institute
Blow, Matt
United Kingdom, Hinxton
Wellcome Sanger Institute
Greenman, Chris
United Kingdom, Hinxton
Wellcome Sanger Institute
Xue, Yali
United Kingdom, Hinxton
Wellcome Sanger Institute
Tyler-Smith, Chris
United Kingdom, Hinxton
Wellcome Sanger Institute
Thompson, Deborah J.
United Kingdom, Cambridge
Strangeways Research Laboratory
Gray, Kristian A.
United Kingdom, Hinxton
Wellcome Sanger Institute
Andrews, Jenny
United Kingdom, Hinxton
Wellcome Sanger Institute
Barthorpe, Syd
United Kingdom, Hinxton
Wellcome Sanger Institute
Buck, Gemma
United Kingdom, Hinxton
Wellcome Sanger Institute
Cole, Jennifer
United Kingdom, Hinxton
Wellcome Sanger Institute
Dunmore, Rebecca
United Kingdom, Hinxton
Wellcome Sanger Institute
Jones, David R.
United Kingdom, Hinxton
Wellcome Sanger Institute
Maddison, Mark
United Kingdom, Hinxton
Wellcome Sanger Institute
Mironenko, Tatiana
United Kingdom, Hinxton
Wellcome Sanger Institute
Turner, Rachel
United Kingdom, Hinxton
Wellcome Sanger Institute
Turrell, Kelly
United Kingdom, Hinxton
Wellcome Sanger Institute
Varian, Jennifer
United Kingdom, Hinxton
Wellcome Sanger Institute
West, Sofie
United Kingdom, Hinxton
Wellcome Sanger Institute
Widaa, Sara
United Kingdom, Hinxton
Wellcome Sanger Institute
Wray, Paul
United Kingdom, Hinxton
Wellcome Sanger Institute
Teague, Jon W.
United Kingdom, Hinxton
Wellcome Sanger Institute
Butler, Adam P.
United Kingdom, Hinxton
Wellcome Sanger Institute
Jenkinson, Andrew M.
United Kingdom, Hinxton
Wellcome Sanger Institute
Jia, Mingming
United Kingdom, Hinxton
Wellcome Sanger Institute
Richardson, David
United Kingdom, Hinxton
Wellcome Sanger Institute
Shepherd, Rebecca
United Kingdom, Hinxton
Wellcome Sanger Institute
Wooster, Richard
United Kingdom, Hinxton
Wellcome Sanger Institute
Tejada, María Isabel
Spain, Baracaldo
Osakidetza, Cruces University Hospital
Martinez, Francisco
Spain, Valencia
Hospital Universitari I Politècnic la fe
Carvill, Gemma L.
South Africa, Cape Town
Faculty of Health Sciences
Goliath, Rene G.
South Africa, Cape Town
Faculty of Health Sciences
de Brouwer, Arjan P.M.
Netherlands, Nijmegen
Radboud University Medical Center
van Bokhoven, Hans
Netherlands, Nijmegen
Radboud University Medical Center
Van Esch, Hilde
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Chelly, Jamel
France, Paris
Université Paris Cité
Raynaud, Martine
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Ropers, Hans Hilger
Germany, Berlin
Max Planck Institute for Molecular Genetics
Abidi, Fatima
United States, Greenwood
Greenwood Genetics Center
Srivastava, Anand K.
United States, Greenwood
Greenwood Genetics Center
Cox, James J.
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Luo, Ying
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Mallya, Uma
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Moon, Jenny
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Parnau, Josef
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Mohammed, Shehla Nilofer
United Kingdom, London
Guy's Hospital
Tolmie, J. L.
United Kingdom, Glasgow
Royal Hospital for Sick Children
Shoubridge, Cheryl
Australia, Adelaide
Women's and Children's Hospital Adelaide
Corbett, Mark A.
Australia, Adelaide
Women's and Children's Hospital Adelaide
Gardner, Alison
Australia, Adelaide
Women's and Children's Hospital Adelaide
Haan, Eric A.
Australia, Adelaide
Women's and Children's Hospital Adelaide
Rujirabanjerd, Sinitdhorn
Australia, Adelaide
Women's and Children's Hospital Adelaide
Shaw, Marie
Australia, Adelaide
Women's and Children's Hospital Adelaide
Vandeleur, Lucianne
Australia, Adelaide
Women's and Children's Hospital Adelaide
Fullston, Tod
Australia, Adelaide
Women's and Children's Hospital Adelaide
d'Adamo, Adamo P.
United Kingdom, Cambridge
Strangeways Research Laboratory
Boyle, Jackie
Australia, Newcastle
Hunter Health
Partington, Michael
Australia, Newcastle
Hunter Health
Hackett, Anna
Australia, Newcastle
Hunter Health
Field, Michael J.
Australia, Newcastle
Hunter Health
Skinner, Cindy
United States, Greenwood
Greenwood Genetics Center
Stevenson, Roger E.
United States, Greenwood
Greenwood Genetics Center
Bobrow, Martin
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Turner, Gillian M.
Australia, Newcastle
Hunter Health
Schwartz, Charles E.
United States, Greenwood
Greenwood Genetics Center
Gécz, J.
Australia, Adelaide
Women's and Children's Hospital Adelaide
Australia, Adelaide
The University of Adelaide
Raymond, Frances Lucy
United Kingdom, Cambridge
Cambridge Institute for Medical Research
Futreal, Phillip Andrew
United Kingdom, Hinxton
Wellcome Sanger Institute
Michael R. Stratton, Michael R.
United Kingdom, Hinxton
Wellcome Sanger Institute
United Kingdom, London
The Institute of Cancer Research
Statistics
Citations: 599
Authors: 79
Affiliations: 18
Identifiers
Doi:
10.1038/ng.367
ISSN:
10614036
e-ISSN:
15461718