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Title: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Authors: Tarpey, Patrick S ×
Smith, Raffaella
Pleasance, Erin
Whibley, Annabel
Edkins, Sarah
Hardy, Claire
O'Meara, Sarah
Latimer, Calli
Dicks, Ed
Menzies, Andrew
Stephens, Phil
Blow, Matt
Greenman, Chris
Xue, Yali
Tyler-Smith, Chris
Thompson, Deborah
Gray, Kristian
Andrews, Jenny
Barthorpe, Syd
Buck, Gemma
Cole, Jennifer
Dunmore, Rebecca
Jones, David
Maddison, Mark
Mironenko, Tatiana
Turner, Rachel
Turrell, Kelly
Varian, Jennifer
West, Sofie
Widaa, Sara
Wray, Paul
Teague, Jon
Butler, Adam
Jenkinson, Andrew
Jia, Mingming
Richardson, David
Shepherd, Rebecca
Wooster, Richard
Tejada, M Isabel
Martinez, Francisco
Carvill, Gemma
Goliath, Rene
de Brouwer, Arjan P M
van Bokhoven, Hans
Van Esch, Hilde
Chelly, Jamel
Raynaud, Martine
Ropers, Hans-Hilger
Abidi, Fatima E
Srivastava, Anand K
Cox, James
Luo, Ying
Mallya, Uma
Moon, Jenny
Parnau, Josef
Mohammed, Shehla
Tolmie, John L
Shoubridge, Cheryl
Corbett, Mark
Gardner, Alison
Haan, Eric
Rujirabanjerd, Sinitdhorn
Shaw, Marie
Vandeleur, Lucianne
Fullston, Tod
Easton, Douglas F
Boyle, Jackie
Partington, Michael
Hackett, Anna
Field, Michael
Skinner, Cindy
Stevenson, Roger E
Bobrow, Martin
Turner, Gillian
Schwartz, Charles E
Gecz, Jozef
Raymond, F Lucy
Futreal, P Andrew
Stratton, Michael R #
Issue Date: May-2009
Series Title: Nature Genetics vol:41 issue:5 pages:535-543
Abstract: 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.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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