Article
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Nature genetics - 1 May 2009
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
Abstract excerpt
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...
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