A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Identifieur interne : 008484 ( Main/Exploration ); précédent : 008483; suivant : 008485A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Auteurs : Patrick S. Tarpey [Royaume-Uni, Australie] ; Raffaella Smith [Royaume-Uni] ; Erin Pleasance [Royaume-Uni] ; Annabel Whibley [Royaume-Uni] ; Sarah Edkins [Royaume-Uni] ; Claire Hardy [Royaume-Uni] ; Sarah O'Meara [Royaume-Uni] ; Calli Latimer [Royaume-Uni] ; Ed Dicks [Royaume-Uni] ; Andrew Menzies [Royaume-Uni] ; Phil Stephens [Royaume-Uni] ; Matt Blow [Royaume-Uni] ; Chris Greenman [Royaume-Uni] ; YALI XUE [Royaume-Uni] ; Chris Tyler-Smith [Royaume-Uni] ; Deborah Thompson [Royaume-Uni] ; Kristian Gray [Royaume-Uni] ; Jenny Andrews [Royaume-Uni] ; Syd Barthorpe [Royaume-Uni] ; Gemma Buck [Royaume-Uni] ; Jennifer Cole [Royaume-Uni] ; Rebecca Dunmore [Royaume-Uni] ; David Jones [Royaume-Uni] ; Mark Maddison [Royaume-Uni] ; Tatiana Mironenko [Royaume-Uni] ; Rachel Turner [Royaume-Uni] ; Kelly Turrell [Royaume-Uni] ; Jennifer Varian [Royaume-Uni] ; Sofie West [Royaume-Uni] ; Sara Widaa [Royaume-Uni] ; Paul Wray [Royaume-Uni] ; Jon Teague [Royaume-Uni] ; Adam Butler [Royaume-Uni] ; Andrew Jenkinson [Royaume-Uni] ; MINGMING JIA [Royaume-Uni] ; David Richardson [Royaume-Uni] ; Rebecca Shepherd [Royaume-Uni] ; Richard Wooster [Royaume-Uni] ; M. Isabel Tejada [Espagne] ; Francisco Martinez [Espagne] ; Gemma Carvill [Afrique du Sud] ; Rene Goliath [Afrique du Sud] ; Arjan P. M. De Brouwer [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Hilde Van Esch [Belgique] ; Jamel Chelly [France] ; Martine Raynaud [France] ; Hans-Hilger Ropers [Allemagne] ; Fatima E. Abidi [États-Unis] ; Anand K. Srivastava [États-Unis] ; James Cox [Royaume-Uni] ; YING LUO [Royaume-Uni] ; Uma Mallya [Royaume-Uni] ; Jenny Moon [Royaume-Uni] ; Josef Parnau [Royaume-Uni] ; Shehla Mohammed [Royaume-Uni] ; John L. Tolmie [Royaume-Uni] ; Cheryl Shoubridge [Australie]Source :
- Nature genetics [ 1061-4036 ] ; 2009.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
Url:
Affiliations:
- Afrique du Sud, Allemagne, Australie, Belgique, Espagne, France, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Caroline du Sud, Centre-Val de Loire, Grand Londres, Gueldre, Région Centre, Île-de-France
- Londres, Nimègue, Paris, Tours
Links toward previous steps (curation, corpus...)
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- to stream Ncbi, to step Merge: 000572
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Le document en format XML
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Institute</wicri:noRegion></affiliation></author><author><name sortKey="Dunmore, Rebecca" sort="Dunmore, Rebecca" uniqKey="Dunmore R" first="Rebecca" last="Dunmore">Rebecca Dunmore</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Jones, David" sort="Jones, David" uniqKey="Jones D" first="David" last="Jones">David Jones</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Maddison, Mark" sort="Maddison, Mark" uniqKey="Maddison M" first="Mark" last="Maddison">Mark Maddison</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Mironenko, Tatiana" sort="Mironenko, Tatiana" uniqKey="Mironenko T" first="Tatiana" last="Mironenko">Tatiana Mironenko</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Turner, Rachel" sort="Turner, Rachel" uniqKey="Turner R" first="Rachel" last="Turner">Rachel Turner</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Turrell, Kelly" sort="Turrell, Kelly" uniqKey="Turrell K" first="Kelly" last="Turrell">Kelly Turrell</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Varian, Jennifer" sort="Varian, Jennifer" uniqKey="Varian J" first="Jennifer" last="Varian">Jennifer Varian</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="West, Sofie" sort="West, Sofie" uniqKey="West S" first="Sofie" last="West">Sofie West</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Widaa, Sara" sort="Widaa, Sara" uniqKey="Widaa S" first="Sara" last="Widaa">Sara Widaa</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Wray, Paul" sort="Wray, Paul" uniqKey="Wray P" first="Paul" last="Wray">Paul Wray</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Jenkinson, Andrew" sort="Jenkinson, Andrew" uniqKey="Jenkinson A" first="Andrew" last="Jenkinson">Andrew Jenkinson</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Mingming Jia" sort="Mingming Jia" uniqKey="Mingming Jia" last="Mingming Jia">MINGMING JIA</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Richardson, David" sort="Richardson, David" uniqKey="Richardson D" first="David" last="Richardson">David Richardson</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Shepherd, Rebecca" sort="Shepherd, Rebecca" uniqKey="Shepherd R" first="Rebecca" last="Shepherd">Rebecca Shepherd</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Wooster, Richard" sort="Wooster, Richard" uniqKey="Wooster R" first="Richard" last="Wooster">Richard Wooster</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Tejada, M Isabel" sort="Tejada, M Isabel" uniqKey="Tejada M" first="M. Isabel" last="Tejada">M. Isabel Tejada</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Molecular Genetics Laboratory, Hospital de Cruces</s1><s2>Bizkaia</s2><s3>ESP</s3><sZ>39 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Bizkaia</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Francisco" sort="Martinez, Francisco" uniqKey="Martinez F" first="Francisco" last="Martinez">Francisco Martinez</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar</s1><s2>Valencia</s2><s3>ESP</s3><sZ>40 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Carvill, Gemma" sort="Carvill, Gemma" uniqKey="Carvill G" first="Gemma" last="Carvill">Gemma Carvill</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</s1><s3>ZAF</s3><sZ>41 aut.</sZ><sZ>42 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Goliath, Rene" sort="Goliath, Rene" uniqKey="Goliath R" first="Rene" last="Goliath">Rene Goliath</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</s1><s3>ZAF</s3><sZ>41 aut.</sZ><sZ>42 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>43 aut.</sZ><sZ>44 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>43 aut.</sZ><sZ>44 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>45 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104</s1><s2>Paris</s2><s3>FRA</s3><sZ>46 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique</s1><s2>Tours</s2><s3>FRA</s3><sZ>47 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin-Dahlem</s2><s3>DEU</s3><sZ>48 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Berlin-Dahlem</wicri:noRegion><wicri:noRegion>Max Planck Institute for Molecular Genetics</wicri:noRegion><wicri:noRegion>Berlin-Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Abidi, Fatima E" sort="Abidi, Fatima E" uniqKey="Abidi F" first="Fatima E." last="Abidi">Fatima E. Abidi</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>JC Self Research Institute of Human Genetics, Greenwood Genetic Center</s1><s2>Greenwood, South Carolina</s2><s3>USA</s3><sZ>49 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Srivastava, Anand K" sort="Srivastava, Anand K" uniqKey="Srivastava A" first="Anand K." last="Srivastava">Anand K. Srivastava</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>JC Self Research Institute of Human Genetics, Greenwood Genetic Center</s1><s2>Greenwood, South Carolina</s2><s3>USA</s3><sZ>49 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Cox, James" sort="Cox, James" uniqKey="Cox J" first="James" last="Cox">James Cox</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Ying Luo" sort="Ying Luo" uniqKey="Ying Luo" last="Ying Luo">YING LUO</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Mallya, Uma" sort="Mallya, Uma" uniqKey="Mallya U" first="Uma" last="Mallya">Uma Mallya</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Moon, Jenny" sort="Moon, Jenny" uniqKey="Moon J" first="Jenny" last="Moon">Jenny Moon</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Parnau, Josef" sort="Parnau, Josef" uniqKey="Parnau J" first="Josef" last="Parnau">Josef Parnau</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name><affiliation wicri:level="3"><inist:fA14 i1="14"><s1>Guy's Hospital, Great Maze Pond</s1><s2>London</s2><s3>GBR</s3><sZ>56 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L." last="Tolmie">John L. Tolmie</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Institute of Medical Genetics, Yorkhill Hospital</s1><s2>Glasgow</s2><s3>GBR</s3><sZ>57 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>SA Pathology, Women's and Children's Hospital</s1><s2>North Adelaide, South Australia</s2><s3>AUS</s3><sZ>58 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>North Adelaide, South Australia</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0232260</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0232260 INIST</idno><idno type="RBID">Pascal:09-0232260</idno><idno type="wicri:Area/PascalFrancis/Corpus">002D99</idno><idno type="stanalyst">FRANCIS 09-0232260 INIST</idno><idno type="wicri:Area/PascalFrancis/Corpus">003149</idno><idno type="wicri:Area/PascalFrancis/Curation">003221</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002D11</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">002D11</idno><idno type="wicri:doubleKey">1061-4036:2009:Tarpey P:a:systematic:large</idno><idno type="wicri:Area/Main/Merge">008C80</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007</idno><idno type="RBID">PMC:2872007</idno><idno type="wicri:Area/Pmc/Corpus">002124</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002124</idno><idno type="wicri:Area/Pmc/Curation">001F78</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001F78</idno><idno type="wicri:Area/Pmc/Checkpoint">002872</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002872</idno><idno type="wicri:Area/Ncbi/Merge">000572</idno><idno type="wicri:Area/Ncbi/Curation">000572</idno><idno type="wicri:Area/Ncbi/Checkpoint">000572</idno><idno type="wicri:doubleKey">1061-4036:2009:Tarpey P:a:systematic:large</idno><idno type="wicri:Area/Main/Merge">008347</idno><idno type="wicri:Area/Main/Curation">008484</idno><idno type="wicri:Area/Main/Exploration">008484</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation</title><author><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>GOLD Service, Hunter Genetics</s1><s2>Waratah, New South Wales</s2><s3>AUS</s3></inist:fA14><country>Australie</country><wicri:noRegion>Waratah, New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>The University of Adelaide</s1><s2>Adelaide, SA</s2><s3>AUS</s3></inist:fA14><country>Australie</country><wicri:noRegion>The University of Adelaide</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Institute of Cancer Research</s1><s2>Surrey</s2><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Institute of Cancer Research</wicri:noRegion></affiliation></author><author><name sortKey="Smith, Raffaella" sort="Smith, Raffaella" uniqKey="Smith R" first="Raffaella" last="Smith">Raffaella Smith</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger 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Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, Claire" sort="Hardy, Claire" uniqKey="Hardy C" first="Claire" last="Hardy">Claire Hardy</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="O Meara, Sarah" sort="O Meara, Sarah" uniqKey="O Meara S" first="Sarah" last="O'Meara">Sarah O'Meara</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Latimer, Calli" sort="Latimer, Calli" uniqKey="Latimer C" first="Calli" last="Latimer">Calli Latimer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Menzies, Andrew" sort="Menzies, Andrew" uniqKey="Menzies A" first="Andrew" last="Menzies">Andrew Menzies</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Stephens, Phil" sort="Stephens, Phil" uniqKey="Stephens P" first="Phil" last="Stephens">Phil Stephens</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 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Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Mironenko, Tatiana" sort="Mironenko, Tatiana" uniqKey="Mironenko T" first="Tatiana" last="Mironenko">Tatiana Mironenko</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Turner, Rachel" sort="Turner, Rachel" uniqKey="Turner R" first="Rachel" last="Turner">Rachel Turner</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Turrell, Kelly" sort="Turrell, Kelly" uniqKey="Turrell K" first="Kelly" last="Turrell">Kelly Turrell</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger 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aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Widaa, Sara" sort="Widaa, Sara" uniqKey="Widaa S" first="Sara" last="Widaa">Sara Widaa</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Wray, Paul" sort="Wray, Paul" uniqKey="Wray P" first="Paul" last="Wray">Paul Wray</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Jenkinson, Andrew" sort="Jenkinson, Andrew" uniqKey="Jenkinson A" first="Andrew" last="Jenkinson">Andrew 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aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Richardson, David" sort="Richardson, David" uniqKey="Richardson D" first="David" last="Richardson">David Richardson</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Wellcome Trust Sanger Institute</s1><s2>Hinxton, Cambridge</s2><s3>GBR</s3><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ><sZ>29 aut.</sZ><sZ>30 aut.</sZ><sZ>31 aut.</sZ><sZ>32 aut.</sZ><sZ>33 aut.</sZ><sZ>34 aut.</sZ><sZ>35 aut.</sZ><sZ>36 aut.</sZ><sZ>37 aut.</sZ><sZ>38 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Wellcome Trust Sanger Institute</wicri:noRegion></affiliation></author><author><name sortKey="Shepherd, Rebecca" sort="Shepherd, Rebecca" uniqKey="Shepherd R" first="Rebecca" last="Shepherd">Rebecca Shepherd</name><affiliation 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Isabel" last="Tejada">M. Isabel Tejada</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Molecular Genetics Laboratory, Hospital de Cruces</s1><s2>Bizkaia</s2><s3>ESP</s3><sZ>39 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Bizkaia</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Francisco" sort="Martinez, Francisco" uniqKey="Martinez F" first="Francisco" last="Martinez">Francisco Martinez</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar</s1><s2>Valencia</s2><s3>ESP</s3><sZ>40 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Carvill, Gemma" sort="Carvill, Gemma" uniqKey="Carvill G" first="Gemma" last="Carvill">Gemma Carvill</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</s1><s3>ZAF</s3><sZ>41 aut.</sZ><sZ>42 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="Goliath, Rene" sort="Goliath, Rene" uniqKey="Goliath R" first="Rene" last="Goliath">Rene Goliath</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</s1><s3>ZAF</s3><sZ>41 aut.</sZ><sZ>42 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town</wicri:noRegion></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>43 aut.</sZ><sZ>44 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>43 aut.</sZ><sZ>44 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Center for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>45 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104</s1><s2>Paris</s2><s3>FRA</s3><sZ>46 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique</s1><s2>Tours</s2><s3>FRA</s3><sZ>47 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</s1><s2>Berlin-Dahlem</s2><s3>DEU</s3><sZ>48 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Berlin-Dahlem</wicri:noRegion><wicri:noRegion>Max Planck Institute for Molecular Genetics</wicri:noRegion><wicri:noRegion>Berlin-Dahlem</wicri:noRegion></affiliation></author><author><name sortKey="Abidi, Fatima E" sort="Abidi, Fatima E" uniqKey="Abidi F" first="Fatima E." last="Abidi">Fatima E. Abidi</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>JC Self Research Institute of Human Genetics, Greenwood Genetic Center</s1><s2>Greenwood, South Carolina</s2><s3>USA</s3><sZ>49 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Srivastava, Anand K" sort="Srivastava, Anand K" uniqKey="Srivastava A" first="Anand K." last="Srivastava">Anand K. Srivastava</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>JC Self Research Institute of Human Genetics, Greenwood Genetic Center</s1><s2>Greenwood, South Carolina</s2><s3>USA</s3><sZ>49 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Cox, James" sort="Cox, James" uniqKey="Cox J" first="James" last="Cox">James Cox</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Ying Luo" sort="Ying Luo" uniqKey="Ying Luo" last="Ying Luo">YING LUO</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Mallya, Uma" sort="Mallya, Uma" uniqKey="Mallya U" first="Uma" last="Mallya">Uma Mallya</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Moon, Jenny" sort="Moon, Jenny" uniqKey="Moon J" first="Jenny" last="Moon">Jenny Moon</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Parnau, Josef" sort="Parnau, Josef" uniqKey="Parnau J" first="Josef" last="Parnau">Josef Parnau</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cambridge Institute of Medical Research</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ><sZ>53 aut.</sZ><sZ>54 aut.</sZ><sZ>55 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge Institute of Medical Research</wicri:noRegion></affiliation></author><author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name><affiliation wicri:level="3"><inist:fA14 i1="14"><s1>Guy's Hospital, Great Maze Pond</s1><s2>London</s2><s3>GBR</s3><sZ>56 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L." last="Tolmie">John L. Tolmie</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Institute of Medical Genetics, Yorkhill Hospital</s1><s2>Glasgow</s2><s3>GBR</s3><sZ>57 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>SA Pathology, Women's and Children's Hospital</s1><s2>North Adelaide, South Australia</s2><s3>AUS</s3><sZ>58 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>North Adelaide, South Australia</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Nature genetics</title><title level="j" type="abbreviated">Nat. genet.</title><idno type="ISSN">1061-4036</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Nature genetics</title><title level="j" type="abbreviated">Nat. genet.</title><idno type="ISSN">1061-4036</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exon</term><term>Mental retardation</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chromosome X</term><term>Exon</term><term>Arriération mentale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Espagne</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Caroline du Sud</li><li>Centre-Val de Loire</li><li>Grand Londres</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name></noRegion><name sortKey="Andrews, Jenny" sort="Andrews, Jenny" uniqKey="Andrews J" first="Jenny" last="Andrews">Jenny Andrews</name><name sortKey="Barthorpe, Syd" sort="Barthorpe, Syd" uniqKey="Barthorpe S" first="Syd" last="Barthorpe">Syd Barthorpe</name><name sortKey="Blow, Matt" sort="Blow, Matt" uniqKey="Blow M" first="Matt" last="Blow">Matt Blow</name><name sortKey="Buck, Gemma" sort="Buck, Gemma" uniqKey="Buck G" first="Gemma" last="Buck">Gemma Buck</name><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><name sortKey="Cole, Jennifer" sort="Cole, Jennifer" uniqKey="Cole J" first="Jennifer" last="Cole">Jennifer Cole</name><name sortKey="Cox, James" sort="Cox, James" uniqKey="Cox J" first="James" last="Cox">James Cox</name><name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name><name sortKey="Dunmore, Rebecca" sort="Dunmore, Rebecca" uniqKey="Dunmore R" first="Rebecca" last="Dunmore">Rebecca Dunmore</name><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name><name sortKey="Gray, Kristian" sort="Gray, Kristian" uniqKey="Gray K" first="Kristian" last="Gray">Kristian Gray</name><name sortKey="Greenman, Chris" sort="Greenman, Chris" uniqKey="Greenman C" first="Chris" last="Greenman">Chris Greenman</name><name sortKey="Hardy, Claire" sort="Hardy, Claire" uniqKey="Hardy C" first="Claire" last="Hardy">Claire Hardy</name><name sortKey="Jenkinson, Andrew" sort="Jenkinson, Andrew" uniqKey="Jenkinson A" first="Andrew" last="Jenkinson">Andrew Jenkinson</name><name sortKey="Jones, David" sort="Jones, David" uniqKey="Jones D" first="David" last="Jones">David Jones</name><name sortKey="Latimer, Calli" sort="Latimer, Calli" uniqKey="Latimer C" first="Calli" last="Latimer">Calli Latimer</name><name sortKey="Maddison, Mark" sort="Maddison, Mark" uniqKey="Maddison M" first="Mark" last="Maddison">Mark Maddison</name><name sortKey="Mallya, Uma" sort="Mallya, Uma" uniqKey="Mallya U" first="Uma" last="Mallya">Uma Mallya</name><name sortKey="Menzies, Andrew" sort="Menzies, Andrew" uniqKey="Menzies A" first="Andrew" last="Menzies">Andrew Menzies</name><name sortKey="Mingming Jia" sort="Mingming Jia" uniqKey="Mingming Jia" last="Mingming Jia">MINGMING JIA</name><name sortKey="Mironenko, Tatiana" sort="Mironenko, Tatiana" uniqKey="Mironenko T" first="Tatiana" last="Mironenko">Tatiana Mironenko</name><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name><name sortKey="Moon, Jenny" sort="Moon, Jenny" uniqKey="Moon J" first="Jenny" last="Moon">Jenny Moon</name><name sortKey="O Meara, Sarah" sort="O Meara, Sarah" uniqKey="O Meara S" first="Sarah" last="O'Meara">Sarah O'Meara</name><name sortKey="Parnau, Josef" sort="Parnau, Josef" uniqKey="Parnau J" first="Josef" last="Parnau">Josef Parnau</name><name sortKey="Pleasance, Erin" sort="Pleasance, Erin" uniqKey="Pleasance E" first="Erin" last="Pleasance">Erin Pleasance</name><name sortKey="Richardson, David" sort="Richardson, David" uniqKey="Richardson D" first="David" last="Richardson">David Richardson</name><name sortKey="Shepherd, Rebecca" sort="Shepherd, Rebecca" uniqKey="Shepherd R" first="Rebecca" last="Shepherd">Rebecca Shepherd</name><name sortKey="Smith, Raffaella" sort="Smith, Raffaella" uniqKey="Smith R" first="Raffaella" last="Smith">Raffaella Smith</name><name sortKey="Stephens, Phil" sort="Stephens, Phil" uniqKey="Stephens P" first="Phil" last="Stephens">Phil Stephens</name><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><name sortKey="Thompson, Deborah" sort="Thompson, Deborah" uniqKey="Thompson D" first="Deborah" last="Thompson">Deborah Thompson</name><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L." last="Tolmie">John L. Tolmie</name><name sortKey="Turner, Rachel" sort="Turner, Rachel" uniqKey="Turner R" first="Rachel" last="Turner">Rachel Turner</name><name sortKey="Turrell, Kelly" sort="Turrell, Kelly" uniqKey="Turrell K" first="Kelly" last="Turrell">Kelly Turrell</name><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name><name sortKey="Varian, Jennifer" sort="Varian, Jennifer" uniqKey="Varian J" first="Jennifer" last="Varian">Jennifer Varian</name><name sortKey="West, Sofie" sort="West, Sofie" uniqKey="West S" first="Sofie" last="West">Sofie West</name><name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name><name sortKey="Widaa, Sara" sort="Widaa, Sara" uniqKey="Widaa S" first="Sara" last="Widaa">Sara Widaa</name><name sortKey="Wooster, Richard" sort="Wooster, Richard" uniqKey="Wooster R" first="Richard" last="Wooster">Richard Wooster</name><name sortKey="Wray, Paul" sort="Wray, Paul" uniqKey="Wray P" first="Paul" last="Wray">Paul Wray</name><name sortKey="Yali Xue" sort="Yali Xue" uniqKey="Yali Xue" last="Yali Xue">YALI XUE</name><name sortKey="Ying Luo" sort="Ying Luo" uniqKey="Ying Luo" last="Ying Luo">YING LUO</name></country><country name="Australie"><noRegion><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name></noRegion><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S." last="Tarpey">Patrick S. Tarpey</name></country><country name="Espagne"><noRegion><name sortKey="Tejada, M Isabel" sort="Tejada, M Isabel" uniqKey="Tejada M" first="M. Isabel" last="Tejada">M. Isabel Tejada</name></noRegion><name sortKey="Martinez, Francisco" sort="Martinez, Francisco" uniqKey="Martinez F" first="Francisco" last="Martinez">Francisco Martinez</name></country><country name="Afrique du Sud"><noRegion><name sortKey="Carvill, Gemma" sort="Carvill, Gemma" uniqKey="Carvill G" first="Gemma" last="Carvill">Gemma Carvill</name></noRegion><name sortKey="Goliath, Rene" sort="Goliath, Rene" uniqKey="Goliath R" first="Rene" last="Goliath">Rene Goliath</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name></region><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></country><country name="Belgique"><noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></region><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></country><country name="Allemagne"><noRegion><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name></noRegion></country><country name="États-Unis"><region name="Caroline du Sud"><name sortKey="Abidi, Fatima E" sort="Abidi, Fatima E" uniqKey="Abidi F" first="Fatima E." last="Abidi">Fatima E. Abidi</name></region><name sortKey="Srivastava, Anand K" sort="Srivastava, Anand K" uniqKey="Srivastava A" first="Anand K." last="Srivastava">Anand K. Srivastava</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
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