Abstract
Original language | English |
---|---|
Pages (from-to) | 535-543 |
Number of pages | 9 |
Journal | Nature Genetics |
Volume | 41 |
Issue number | 5 |
DOIs | |
Publication status | Published - 1 May 2009 |
Access to Document
Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver
}
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. / 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, Christopher; 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.
In: Nature Genetics, Vol. 41, No. 5, 01.05.2009, p. 535-543.Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
AU - Tarpey, Patrick S
AU - Smith, Raffaella
AU - Pleasance, Erin
AU - Whibley, Annabel
AU - Edkins, Sarah
AU - Hardy, Claire
AU - O'meara, Sarah
AU - Latimer, Calli
AU - Dicks, Ed
AU - Menzies, Andrew
AU - Stephens, Phil
AU - Blow, Matt
AU - Greenman, Christopher
AU - Xue, Yali
AU - Tyler-smith, Chris
AU - Thompson, Deborah
AU - Gray, Kristian
AU - Andrews, Jenny
AU - Barthorpe, Syd
AU - Buck, Gemma
AU - Cole, Jennifer
AU - Dunmore, Rebecca
AU - Jones, David
AU - Maddison, Mark
AU - Mironenko, Tatiana
AU - Turner, Rachel
AU - Turrell, Kelly
AU - Varian, Jennifer
AU - West, Sofie
AU - Widaa, Sara
AU - Wray, Paul
AU - Teague, Jon
AU - Butler, Adam
AU - Jenkinson, Andrew
AU - Jia, Mingming
AU - Richardson, David
AU - Shepherd, Rebecca
AU - Wooster, Richard
AU - Tejada, M Isabel
AU - Martinez, Francisco
AU - Carvill, Gemma
AU - Goliath, Rene
AU - De Brouwer, Arjan P M
AU - Van Bokhoven, Hans
AU - Van Esch, Hilde
AU - Chelly, Jamel
AU - Raynaud, Martine
AU - Ropers, Hans-hilger
AU - Abidi, Fatima E
AU - Srivastava, Anand K
AU - Cox, James
AU - Luo, Ying
AU - Mallya, Uma
AU - Moon, Jenny
AU - Parnau, Josef
AU - Mohammed, Shehla
AU - Tolmie, John L
AU - Shoubridge, Cheryl
AU - Corbett, Mark
AU - Gardner, Alison
AU - Haan, Eric
AU - Rujirabanjerd, Sinitdhorn
AU - Shaw, Marie
AU - Vandeleur, Lucianne
AU - Fullston, Tod
AU - Easton, Douglas F
AU - Boyle, Jackie
AU - Partington, Michael
AU - Hackett, Anna
AU - Field, Michael
AU - Skinner, Cindy
AU - Stevenson, Roger E
AU - Bobrow, Martin
AU - Turner, Gillian
AU - Schwartz, Charles E
AU - Gecz, Jozef
AU - Raymond, F Lucy
AU - Futreal, P Andrew
AU - Stratton, Michael R
PY - 2009/5/1
Y1 - 2009/5/1
N2 - 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.
AB - 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.
U2 - 10.1038/ng.367
DO - 10.1038/ng.367
M3 - Article
VL - 41
SP - 535
EP - 543
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 5
ER -