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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Smith, Raffaella" sort="Smith, Raffaella" uniqKey="Smith R" first="Raffaella" last="Smith">Raffaella Smith</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Pleasance, Erin" sort="Pleasance, Erin" uniqKey="Pleasance E" first="Erin" last="Pleasance">Erin Pleasance</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Hardy, Claire" sort="Hardy, Claire" uniqKey="Hardy C" first="Claire" last="Hardy">Claire Hardy</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></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><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Latimer, Calli" sort="Latimer, Calli" uniqKey="Latimer C" first="Calli" last="Latimer">Calli Latimer</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Menzies, Andrew" sort="Menzies, Andrew" uniqKey="Menzies A" first="Andrew" last="Menzies">Andrew Menzies</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Stephens, Phil" sort="Stephens, Phil" uniqKey="Stephens P" first="Phil" last="Stephens">Phil Stephens</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Blow, Matt" sort="Blow, Matt" uniqKey="Blow M" first="Matt" last="Blow">Matt Blow</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Greenman, Chris" sort="Greenman, Chris" uniqKey="Greenman C" first="Chris" last="Greenman">Chris Greenman</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Xue, Yali" sort="Xue, Yali" uniqKey="Xue Y" first="Yali" last="Xue">Yali Xue</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Thompson, Deborah" sort="Thompson, Deborah" uniqKey="Thompson D" first="Deborah" last="Thompson">Deborah Thompson</name><affiliation><nlm:aff id="A3">Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Gray, Kristian" sort="Gray, Kristian" uniqKey="Gray K" first="Kristian" last="Gray">Kristian Gray</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Andrews, Jenny" sort="Andrews, Jenny" uniqKey="Andrews J" first="Jenny" last="Andrews">Jenny Andrews</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Barthorpe, Syd" sort="Barthorpe, Syd" uniqKey="Barthorpe S" first="Syd" last="Barthorpe">Syd Barthorpe</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Buck, Gemma" sort="Buck, Gemma" uniqKey="Buck G" first="Gemma" last="Buck">Gemma Buck</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Cole, Jennifer" sort="Cole, Jennifer" uniqKey="Cole J" first="Jennifer" last="Cole">Jennifer Cole</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Dunmore, Rebecca" sort="Dunmore, Rebecca" uniqKey="Dunmore R" first="Rebecca" last="Dunmore">Rebecca Dunmore</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jones, David" sort="Jones, David" uniqKey="Jones D" first="David" last="Jones">David Jones</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Maddison, Mark" sort="Maddison, Mark" uniqKey="Maddison M" first="Mark" last="Maddison">Mark Maddison</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mironenko, Tatiana" sort="Mironenko, Tatiana" uniqKey="Mironenko T" first="Tatiana" last="Mironenko">Tatiana Mironenko</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turner, Rachel" sort="Turner, Rachel" uniqKey="Turner R" first="Rachel" last="Turner">Rachel Turner</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turrell, Kelly" sort="Turrell, Kelly" uniqKey="Turrell K" first="Kelly" last="Turrell">Kelly Turrell</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Varian, Jennifer" sort="Varian, Jennifer" uniqKey="Varian J" first="Jennifer" last="Varian">Jennifer Varian</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="West, Sofie" sort="West, Sofie" uniqKey="West S" first="Sofie" last="West">Sofie West</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Widaa, Sara" sort="Widaa, Sara" uniqKey="Widaa S" first="Sara" last="Widaa">Sara Widaa</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Wray, Paul" sort="Wray, Paul" uniqKey="Wray P" first="Paul" last="Wray">Paul Wray</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jenkinson, Andrew" sort="Jenkinson, Andrew" uniqKey="Jenkinson A" first="Andrew" last="Jenkinson">Andrew Jenkinson</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jia, Mingming" sort="Jia, Mingming" uniqKey="Jia M" first="Mingming" last="Jia">Mingming Jia</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Richardson, David" sort="Richardson, David" uniqKey="Richardson D" first="David" last="Richardson">David Richardson</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Shepherd, Rebecca" sort="Shepherd, Rebecca" uniqKey="Shepherd R" first="Rebecca" last="Shepherd">Rebecca Shepherd</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Wooster, Richard" sort="Wooster, Richard" uniqKey="Wooster R" first="Richard" last="Wooster">Richard Wooster</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></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><nlm:aff id="A4">Molecular Genetics Laboratory, Hospital de Cruces, Bizkaia, Spain.</nlm:aff></affiliation></author><author><name sortKey="Martinez, Francisco" sort="Martinez, Francisco" uniqKey="Martinez F" first="Francisco" last="Martinez">Francisco Martinez</name><affiliation><nlm:aff id="A5">Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar, Valencia, Spain.</nlm:aff></affiliation></author><author><name sortKey="Carvill, Gemma" sort="Carvill, Gemma" uniqKey="Carvill G" first="Gemma" last="Carvill">Gemma Carvill</name><affiliation><nlm:aff id="A6">MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa.</nlm:aff></affiliation></author><author><name sortKey="Goliath, Rene" sort="Goliath, Rene" uniqKey="Goliath R" first="Rene" last="Goliath">Rene Goliath</name><affiliation><nlm:aff id="A6">MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa.</nlm:aff></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><nlm:aff id="A7">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:aff></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><nlm:aff id="A7">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:aff></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><nlm:aff id="A8">Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.</nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="A9">Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="A10">INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Tours, France.</nlm:aff></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><nlm:aff id="A11">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin-Dahlem, Germany.</nlm:aff></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><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></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><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Cox, James" sort="Cox, James" uniqKey="Cox J" first="James" last="Cox">James Cox</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Luo, Ying" sort="Luo, Ying" uniqKey="Luo Y" first="Ying" last="Luo">Ying Luo</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mallya, Uma" sort="Mallya, Uma" uniqKey="Mallya U" first="Uma" last="Mallya">Uma Mallya</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Moon, Jenny" sort="Moon, Jenny" uniqKey="Moon J" first="Jenny" last="Moon">Jenny Moon</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Parnau, Josef" sort="Parnau, Josef" uniqKey="Parnau J" first="Josef" last="Parnau">Josef Parnau</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name><affiliation><nlm:aff id="A13">Guy's Hospital, Great Maze Pond, London, UK.</nlm:aff></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><nlm:aff id="A14">Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.</nlm:aff></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Rujirabanjerd, Sinitdhorn" sort="Rujirabanjerd, Sinitdhorn" uniqKey="Rujirabanjerd S" first="Sinitdhorn" last="Rujirabanjerd">Sinitdhorn Rujirabanjerd</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Vandeleur, Lucianne" sort="Vandeleur, Lucianne" uniqKey="Vandeleur L" first="Lucianne" last="Vandeleur">Lucianne Vandeleur</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="A3">Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Stevenson, Roger E" sort="Stevenson, Roger E" uniqKey="Stevenson R" first="Roger E" last="Stevenson">Roger E. Stevenson</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Bobrow, Martin" sort="Bobrow, Martin" uniqKey="Bobrow M" first="Martin" last="Bobrow">Martin Bobrow</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E" last="Schwartz">Charles E. Schwartz</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A17">The University of Adelaide, Adelaide, SA, Australia.</nlm:aff></affiliation></author><author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F Lucy" last="Raymond">F Lucy Raymond</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Institute of Cancer Research, Surrey, UK.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19377476</idno><idno type="pmc">2872007</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007</idno><idno type="RBID">PMC:2872007</idno><idno type="doi">10.1038/ng.367</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">002124</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002124</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Smith, Raffaella" sort="Smith, Raffaella" uniqKey="Smith R" first="Raffaella" last="Smith">Raffaella Smith</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Pleasance, Erin" sort="Pleasance, Erin" uniqKey="Pleasance E" first="Erin" last="Pleasance">Erin Pleasance</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Whibley, Annabel" sort="Whibley, Annabel" uniqKey="Whibley A" first="Annabel" last="Whibley">Annabel Whibley</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Hardy, Claire" sort="Hardy, Claire" uniqKey="Hardy C" first="Claire" last="Hardy">Claire Hardy</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></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><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Latimer, Calli" sort="Latimer, Calli" uniqKey="Latimer C" first="Calli" last="Latimer">Calli Latimer</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Dicks, Ed" sort="Dicks, Ed" uniqKey="Dicks E" first="Ed" last="Dicks">Ed Dicks</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Menzies, Andrew" sort="Menzies, Andrew" uniqKey="Menzies A" first="Andrew" last="Menzies">Andrew Menzies</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Stephens, Phil" sort="Stephens, Phil" uniqKey="Stephens P" first="Phil" last="Stephens">Phil Stephens</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Blow, Matt" sort="Blow, Matt" uniqKey="Blow M" first="Matt" last="Blow">Matt Blow</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Greenman, Chris" sort="Greenman, Chris" uniqKey="Greenman C" first="Chris" last="Greenman">Chris Greenman</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Xue, Yali" sort="Xue, Yali" uniqKey="Xue Y" first="Yali" last="Xue">Yali Xue</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Thompson, Deborah" sort="Thompson, Deborah" uniqKey="Thompson D" first="Deborah" last="Thompson">Deborah Thompson</name><affiliation><nlm:aff id="A3">Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Gray, Kristian" sort="Gray, Kristian" uniqKey="Gray K" first="Kristian" last="Gray">Kristian Gray</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Andrews, Jenny" sort="Andrews, Jenny" uniqKey="Andrews J" first="Jenny" last="Andrews">Jenny Andrews</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Barthorpe, Syd" sort="Barthorpe, Syd" uniqKey="Barthorpe S" first="Syd" last="Barthorpe">Syd Barthorpe</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Buck, Gemma" sort="Buck, Gemma" uniqKey="Buck G" first="Gemma" last="Buck">Gemma Buck</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Cole, Jennifer" sort="Cole, Jennifer" uniqKey="Cole J" first="Jennifer" last="Cole">Jennifer Cole</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Dunmore, Rebecca" sort="Dunmore, Rebecca" uniqKey="Dunmore R" first="Rebecca" last="Dunmore">Rebecca Dunmore</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jones, David" sort="Jones, David" uniqKey="Jones D" first="David" last="Jones">David Jones</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Maddison, Mark" sort="Maddison, Mark" uniqKey="Maddison M" first="Mark" last="Maddison">Mark Maddison</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mironenko, Tatiana" sort="Mironenko, Tatiana" uniqKey="Mironenko T" first="Tatiana" last="Mironenko">Tatiana Mironenko</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turner, Rachel" sort="Turner, Rachel" uniqKey="Turner R" first="Rachel" last="Turner">Rachel Turner</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turrell, Kelly" sort="Turrell, Kelly" uniqKey="Turrell K" first="Kelly" last="Turrell">Kelly Turrell</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Varian, Jennifer" sort="Varian, Jennifer" uniqKey="Varian J" first="Jennifer" last="Varian">Jennifer Varian</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="West, Sofie" sort="West, Sofie" uniqKey="West S" first="Sofie" last="West">Sofie West</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Widaa, Sara" sort="Widaa, Sara" uniqKey="Widaa S" first="Sara" last="Widaa">Sara Widaa</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Wray, Paul" sort="Wray, Paul" uniqKey="Wray P" first="Paul" last="Wray">Paul Wray</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Butler, Adam" sort="Butler, Adam" uniqKey="Butler A" first="Adam" last="Butler">Adam Butler</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jenkinson, Andrew" sort="Jenkinson, Andrew" uniqKey="Jenkinson A" first="Andrew" last="Jenkinson">Andrew Jenkinson</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Jia, Mingming" sort="Jia, Mingming" uniqKey="Jia M" first="Mingming" last="Jia">Mingming Jia</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Richardson, David" sort="Richardson, David" uniqKey="Richardson D" first="David" last="Richardson">David Richardson</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Shepherd, Rebecca" sort="Shepherd, Rebecca" uniqKey="Shepherd R" first="Rebecca" last="Shepherd">Rebecca Shepherd</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Wooster, Richard" sort="Wooster, Richard" uniqKey="Wooster R" first="Richard" last="Wooster">Richard Wooster</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></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><nlm:aff id="A4">Molecular Genetics Laboratory, Hospital de Cruces, Bizkaia, Spain.</nlm:aff></affiliation></author><author><name sortKey="Martinez, Francisco" sort="Martinez, Francisco" uniqKey="Martinez F" first="Francisco" last="Martinez">Francisco Martinez</name><affiliation><nlm:aff id="A5">Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar, Valencia, Spain.</nlm:aff></affiliation></author><author><name sortKey="Carvill, Gemma" sort="Carvill, Gemma" uniqKey="Carvill G" first="Gemma" last="Carvill">Gemma Carvill</name><affiliation><nlm:aff id="A6">MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa.</nlm:aff></affiliation></author><author><name sortKey="Goliath, Rene" sort="Goliath, Rene" uniqKey="Goliath R" first="Rene" last="Goliath">Rene Goliath</name><affiliation><nlm:aff id="A6">MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa.</nlm:aff></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><nlm:aff id="A7">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:aff></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><nlm:aff id="A7">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:aff></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><nlm:aff id="A8">Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.</nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="A9">Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="A10">INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Tours, France.</nlm:aff></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><nlm:aff id="A11">Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin-Dahlem, Germany.</nlm:aff></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><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></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><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Cox, James" sort="Cox, James" uniqKey="Cox J" first="James" last="Cox">James Cox</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Luo, Ying" sort="Luo, Ying" uniqKey="Luo Y" first="Ying" last="Luo">Ying Luo</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mallya, Uma" sort="Mallya, Uma" uniqKey="Mallya U" first="Uma" last="Mallya">Uma Mallya</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Moon, Jenny" sort="Moon, Jenny" uniqKey="Moon J" first="Jenny" last="Moon">Jenny Moon</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Parnau, Josef" sort="Parnau, Josef" uniqKey="Parnau J" first="Josef" last="Parnau">Josef Parnau</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name><affiliation><nlm:aff id="A13">Guy's Hospital, Great Maze Pond, London, UK.</nlm:aff></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><nlm:aff id="A14">Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.</nlm:aff></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Rujirabanjerd, Sinitdhorn" sort="Rujirabanjerd, Sinitdhorn" uniqKey="Rujirabanjerd S" first="Sinitdhorn" last="Rujirabanjerd">Sinitdhorn Rujirabanjerd</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Vandeleur, Lucianne" sort="Vandeleur, Lucianne" uniqKey="Vandeleur L" first="Lucianne" last="Vandeleur">Lucianne Vandeleur</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="A3">Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Stevenson, Roger E" sort="Stevenson, Roger E" uniqKey="Stevenson R" first="Roger E" last="Stevenson">Roger E. Stevenson</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Bobrow, Martin" sort="Bobrow, Martin" uniqKey="Bobrow M" first="Martin" last="Bobrow">Martin Bobrow</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation><nlm:aff id="A16">GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E" last="Schwartz">Charles E. Schwartz</name><affiliation><nlm:aff id="A12">JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="A15">SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A17">The University of Adelaide, Adelaide, SA, Australia.</nlm:aff></affiliation></author><author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F Lucy" last="Raymond">F Lucy Raymond</name><affiliation><nlm:aff id="A2">Cambridge Institute of Medical Research, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation></author><author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name><affiliation><nlm:aff id="A1">Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Institute of Cancer Research, Surrey, UK.</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P3">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 <italic>SYP, ZNF711</italic> and <italic>CASK</italic> 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.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">19377476</article-id><article-id pub-id-type="pmc">2872007</article-id><article-id pub-id-type="doi">10.1038/ng.367</article-id><article-id pub-id-type="manuscript">UKMS30579</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Tarpey</surname><given-names>Patrick S</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Raffaella</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Pleasance</surname><given-names>Erin</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Whibley</surname><given-names>Annabel</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Edkins</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>Claire</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>O'Meara</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Latimer</surname><given-names>Calli</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib 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contrib-type="author"><name><surname>Fullston</surname><given-names>Tod</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Boyle</surname><given-names>Jackie</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Partington</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Hackett</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Field</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Skinner</surname><given-names>Cindy</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Stevenson</surname><given-names>Roger E</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Bobrow</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Turner</surname><given-names>Gillian</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Schwartz</surname><given-names>Charles E</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><xref ref-type="aff" rid="A15">15</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Raymond</surname><given-names>F Lucy</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Futreal</surname><given-names>P Andrew</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Stratton</surname><given-names>Michael R</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A18">18</xref></contrib></contrib-group><aff id="A1"><label>1</label>Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.</aff><aff id="A2"><label>2</label>Cambridge Institute of Medical Research, Cambridge, UK.</aff><aff id="A3"><label>3</label>Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.</aff><aff id="A4"><label>4</label>Molecular Genetics Laboratory, Hospital de Cruces, Bizkaia, Spain.</aff><aff id="A5"><label>5</label>Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Av/Campanar, Valencia, Spain.</aff><aff id="A6"><label>6</label>MRC Human Genetics Research Unit, Faculty of Health Sciences, University of Cape Town, South Africa.</aff><aff id="A7"><label>7</label>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</aff><aff id="A8"><label>8</label>Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.</aff><aff id="A9"><label>9</label>Université Paris Descartes; Institut Cochin; INSERM Unité 567; CNRS UMR 8104, Paris, France.</aff><aff id="A10"><label>10</label>INSERM, U930; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Tours, France.</aff><aff id="A11"><label>11</label>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin-Dahlem, Germany.</aff><aff id="A12"><label>12</label>JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.</aff><aff id="A13"><label>13</label>Guy's Hospital, Great Maze Pond, London, UK.</aff><aff id="A14"><label>14</label>Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.</aff><aff id="A15"><label>15</label>SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.</aff><aff id="A16"><label>16</label>GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia.</aff><aff id="A17"><label>17</label>The University of Adelaide, Adelaide, SA, Australia.</aff><aff id="A18"><label>18</label>Institute of Cancer Research, Surrey, UK.</aff><author-notes><corresp id="CR1">Correspondence should be addressed to M.R.S. (<email>mrs@sanger.ac.uk</email>) or P.A.F. (<email>paf@sanger.ac.uk</email>).</corresp><fn id="FN2"><p id="P1">AUTHOR CONTRIBUTIONS</p><p id="P2">P.S.T. and R. Smith supervised the X-chromosome sequencing, collation and analysis of data. A.W., S.E., C.H., S.O., C.L., E.D., A.M., P.S., M. Blow, C.G., K.G., J.A., S.B., G.B., J. Cole, R.D., D.J., M.M., T.M., R.T., K.T., J.V., S. West, S. Widaa, P.W., J.T., A.B., A.J., M.J., D.R., R. Shepherd, R.W., A.P.M.d.B., F.E.A., A.K.S., J. Cox, Y.L., U.M., J.M., J.P., C. Shoubridge, M.C., A.G., E.H., S.R., M.S., L.V., T.F. and C. Skinner. performed sequencing, additional molecular analyses and contributed to the data analysis. E.P., D.T., C.T.-S., Y.X., D.F.E. contributed to the analytic design and performed statistical investigations. M.I.T., F.M., G.C., R.G., A.P.M.d.B., H.v.B., H.v.E., J. Chelly, M.R., H.H.R., S.M., J.L.T., M.P., A.H., M.F., R.E.S., G.T., C.E.S., J.G. and F.L.R contributed samples and clinical data from affected individuals. R.E.S., M. Bobrow, G.T., C.E.S., J.G., F.L.R., P.A.F. and M.R.S. conceived, designed and directed the study and wrote the manuscript. All authors contributed to discussion of the results and manuscript preparation. The genetic variants for each individual screened may be obtained from F.L.R. under an agreement not to misuse or further distribute.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>5</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>19</day><month>4</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>5</month><year>2010</year></pub-date><volume>41</volume><issue>5</issue><fpage>535</fpage><lpage>543</lpage><permissions><copyright-statement>© 2009 Nature America, Inc. All rights reserved.</copyright-statement><copyright-year>2009</copyright-year></permissions><abstract><p id="P3">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 <italic>SYP, ZNF711</italic> and <italic>CASK</italic> 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.</p></abstract><funding-group><award-group><funding-source country="United Kingdom">Wellcome Trust : </funding-source><award-id>077012 || WT</award-id></award-group><award-group><funding-source country="United Kingdom">Wellcome Trust : </funding-source><award-id>077012 || WT</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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