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Nuala Sykes
Researcher at Wellcome Trust Centre for Human Genetics
Publications - 19
Citations - 5563
Nuala Sykes is an academic researcher from Wellcome Trust Centre for Human Genetics. The author has contributed to research in topics: Autism & Copy-number variation. The author has an hindex of 15, co-authored 19 publications receiving 5273 citations. Previous affiliations of Nuala Sykes include Ohio State University & University of Oxford.
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Journal ArticleDOI
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto,Alistair T. Pagnamenta,Lambertus Klei,Richard Anney,Daniele Merico,Regina Regan,Judith Conroy,Tiago R. Magalhaes,Tiago R. Magalhaes,Catarina Correia,Catarina Correia,Brett S. Abrahams,Joana Almeida,Elena Bacchelli,Gary D. Bader,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Sean Brennan,Jessica Brian,Susan E. Bryson,Andrew R. Carson,Guillermo Casallo,Jillian P. Casey,Brian H.Y. Chung,Lynne E Cochrane,Christina Corsello,Emily L. Crawford,Andrew Crossett,Cheryl Cytrynbaum,Geraldine Dawson,Maretha de Jonge,Richard Delorme,Irene Drmic,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,Christine M. Freitag,John Gilbert,Christopher Gillberg,Joseph T. Glessner,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Hakon Hakonarson,Elizabeth A. Heron,Matthew Hill,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Cecilia Kim,Sabine M. Klauck,Alexander Kolevzon,Olena Korvatska,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Anath C. Lionel,Anath C. Lionel,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Elena Maestrini,William M. Mahoney,Carine Mantoulan,Christian R. Marshall,Helen McConachie,Christopher J. McDougle,Jane McGrath,William M. McMahon,Alison K. Merikangas,Ohsuke Migita,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Stanley F. Nelson,Carolyn Noakes,Abdul Noor,Gudrun Nygren,Guiomar Oliveira,Katerina Papanikolaou,Jeremy R. Parr,Barbara Parrini,Tara Paton,Andrew Pickles,Marion Pilorge,Joseph Piven,Chris P. Ponting,David J. Posey,Annemarie Poustka,Fritz Poustka,Aparna Prasad,Jiannis Ragoussis,Katy Renshaw,Jessica Rickaby,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Laura J. Bierut,John P. Rice,Jeff Salt,Katherine Sansom,Daisuke Sato,Ricardo Segurado,Ana Filipa Sequeira,Lili Senman,Lili Senman,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Olaf Stein,Nuala Sykes,Vera Stoppioni,Christina Strawbridge,Raffaella Tancredi,Katherine E. Tansey,Bhooma Thiruvahindrapduram,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman Van Engeland,John B. Vincent,Fred R. Volkmar,Simon Wallace,Kai Wang,Zhouzhi Wang,Thomas H. Wassink,Caleb Webber,Rosanna Weksberg,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Jing Wu,Brian L. Yaspan,Danielle Zurawiecki,Lonnie Zwaigenbaum,Joseph D. Buxbaum,Rita M. Cantor,Edwin H. Cook,Hilary Coon,Michael L. Cuccaro,Bernie Devlin,Sean Ennis,Louise Gallagher,Daniel H. Geschwind,Michael Gill,Jonathan L. Haines,Joachim Hallmayer,Judith Miller,Anthony P. Monaco,John I. Nurnberger,Andrew D. Paterson,Margaret A. Pericak-Vance,Gerard D. Schellenberg,Peter Szatmari,Astrid M. Vicente,Veronica J. Vieland,Veronica J. Vieland,Ellen M. Wijsman,Stephen W. Scherer,James S. Sutcliffe,Catalina Betancur +181 more
TL;DR: The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Journal ArticleDOI
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari,Andrew D. Paterson,Lonnie Zwaigenbaum,Wendy Roberts,Jessica Brian,Xiao-Qing Liu,John B. Vincent,Jennifer Skaug,Ann P. Thompson,Lili Senman,Lars Feuk,Cheng Qian,Susan E. Bryson,Marshall B. Jones,Christian R. Marshall,Stephen W. Scherer,Veronica J. Vieland,Christopher W. Bartlett,La Vonne Mangin,Rhinda Goedken,Alberto M. Segre,Margaret A. Pericak-Vance,Michael L. Cuccaro,John R. Gilbert,Harry H. Wright,Ruth K. Abramson,Catalina Betancur,Thomas Bourgeron,Christopher Gillberg,Marion Leboyer,Joseph D. Buxbaum,Kenneth L. Davis,Eric Hollander,Jeremy M. Silverman,Joachim Hallmayer,Linda Lotspeich,James S. Sutcliffe,Jonathan L. Haines,Susan E. Folstein,Joseph Piven,Thomas H. Wassink,Val C. Sheffield,Daniel H. Geschwind,Maja Bucan,W. Ted Brown,Rita M. Cantor,John N. Constantino,T. Conrad Gilliam,Martha R. Herbert,Clara Lajonchere,David H. Ledbetter,Christa Lese-Martin,Janet Miller,Stan F. Nelson,Carol A. Samango-Sprouse,Sarah J. Spence,Matthew W. State,Rudolph E. Tanzi,Hilary Coon,Geraldine Dawson,Bernie Devlin,Annette Estes,Pamela Flodman,Lambertus Klei,William M. McMahon,Nancy J. Minshew,Jeff Munson,Elena Korvatska,Elena Korvatska,Patricia M. Rodier,Gerard D. Schellenberg,Gerard D. Schellenberg,Moyra Smith,M. Anne Spence,Christopher J. Stodgell,Ping Guo Tepper,Ellen M. Wijsman,Chang En Yu,Chang En Yu,Bernadette Rogé,Carine Mantoulan,Kerstin Wittemeyer,Annemarie Poustka,Bärbel Felder,Sabine M. Klauck,Claudia Schuster,Fritz Poustka,Sven Bölte,Sabine Feineis-Matthews,Evelyn Herbrecht,Gabi Schmötzer,John Tsiantis,Katerina Papanikolaou,Elena Maestrini,Elena Bacchelli,Francesca Blasi,Simona Carone,Claudio Toma,Herman van Engeland,Maretha de Jonge,Chantal Kemner,Frederike Koop,Marjolijn Langemeijer,Channa Hijimans,Wouter G. Staal,Gillian Baird,Patrick Bolton,Michael Rutter,Emma Weisblatt,Jonathan Green,Catherine Aldred,Julie Anne Wilkinson,Andrew Pickles,Ann Le Couteur,Tom Berney,Helen McConachie,Anthony J. Bailey,Kostas Francis,Gemma Honeyman,Aislinn Hutchinson,Jeremy R. Parr,Simon Wallace,Anthony P. Monaco,Gabrielle Barnby,Kazuhiro Kobayashi,Janine A. Lamb,Inês Sousa,Nuala Sykes,Edwin H. Cook,Stephen J. Guter,Bennett L. Leventhal,Jeff Salt,Catherine Lord,Christina Corsello,Vanessa Hus,Daniel E. Weeks,Fred R. Volkmar,Maïté Tauber,Eric Fombonne,Andy Shih +139 more
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Journal ArticleDOI
A genome-wide scan for common alleles affecting risk for autism
Richard Anney,Lambertus Klei,Dalila Pinto,Regina Regan,Judith Conroy,Tiago R. Magalhaes,Tiago R. Magalhaes,Catarina Correia,Catarina Correia,Brett S. Abrahams,Nuala Sykes,Alistair T. Pagnamenta,Joana Almeida,Elena Bacchelli,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Sean Brennan,Jessica Brian,Andrew R. Carson,Guillermo Casallo,Jillian P. Casey,Su H. Chu,Lynne E Cochrane,Christina Corsello,Emily L. Crawford,Andrew Crossett,Geraldine Dawson,Geraldine Dawson,Maretha de Jonge,Richard Delorme,Irene Drmic,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,Christine M. Freitag,John B. Gilbert,Christopher Gillberg,Joseph T. Glessner,Jeremy Goldberg,Jonathan Green,Stephen J. Guter,Hakon Hakonarson,Elizabeth A. Heron,Matthew Nicholas Hill,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Cecilia Kim,Sabine M. Klauck,Alexander Kolevzon,Olena Korvatska,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Bennett L. Leventhal,Anath C. Lionel,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Elena Maestrini,William M. Mahoney,Carine Mantoulan,Christian R. Marshall,Helen McConachie,Christopher J. McDougle,Jane McGrath,William M. McMahon,Nadine M. Melhem,Alison K. Merikangas,Ohsuke Migita,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Stanley F. Nelson,Carolyn Noakes,Abdul Noor,Gudrun Nygren,Guiomar Oliveira,Katerina Papanikolaou,Jeremy R. Parr,Barbara Parrini,Tara Paton,Andrew Pickles,Joseph Piven,David J. Posey,Annemarie Poustka,Fritz Poustka,Aparna Prasad,Jiannis Ragoussis,Katy Renshaw,Jessica Rickaby,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Laura J. Bierut,John P. Rice,Jeff Salt,Katherine Sansom,Daisuke Sato,Ricardo Segurado,Lili Senman,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Vera Stoppioni,Christina Strawbridge,Raffaella Tancredi,Katherine E. Tansey,Bhooma Thiruvahindrapduram,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman van Engeland,John B. Vincent,Fred R. Volkmar,Simon Wallace,Kai Wang,Zhouzhi Wang,Thomas H. Wassink,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Brian L. Yaspan,Danielle Zurawiecki,Lonnie Zwaigenbaum,Catalina Betancur,Joseph D. Buxbaum,Rita M. Cantor,Edwin H. Cook,Hilary Coon,Michael L. Cuccaro,Louise Gallagher,Daniel H. Geschwind,Michael Gill,Jonathan L. Haines,Judith Miller,Anthony P. Monaco,John I. Nurnberger,Andrew D. Paterson,Margaret A. Pericak-Vance,Gerard D. Schellenberg,Stephen W. Scherer,James S. Sutcliffe,Peter Szatmari,Astrid M. Vicente,Astrid M. Vicente,Veronica J. Vieland,Ellen M. Wijsman,Bernie Devlin,Sean Ennis,Joachim Hallmayer +170 more
TL;DR: In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
Journal ArticleDOI
Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits
Kay D. MacDermot,Elena Bonora,Nuala Sykes,Anne Marie Coupe,Cecilia S. L. Lai,Sonja C. Vernes,Faraneh Vargha-Khadem,Fiona Haslam McKenzie,Robert L. Smith,Anthony P. Monaco,Simon E. Fisher +10 more
TL;DR: Investigation of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia and the discovery of the first nonsense mutation in FoxP2 opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene.
Journal ArticleDOI
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Richard Anney,Lambertus Klei,Dalila Pinto,Dalila Pinto,Joana Almeida,Elena Bacchelli,Gillian Baird,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Thomas Bourgeron,Sean Brennan,Jessica Brian,Jillian P. Casey,Judith Conroy,Catarina Correia,Catarina Correia,Christina Corsello,Emily L. Crawford,Maretha de Jonge,Richard Delorme,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,John R. Gilbert,Christopher Gillberg,Joseph T. Glessner,Andrew Green,Jonathan Green,Stephen J. Guter,Elizabeth A. Heron,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Suma Jacob,Graham Kenny,Cecilia Kim,Alexander Kolevzon,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Miriam Law-Smith,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Bennett L. Leventhal,Xiao-Qing Liu,Frances Lombard,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Tiago R. Magalhaes,Tiago R. Magalhaes,Carine Mantoulan,Christopher J. McDougle,Christopher J. McDougle,Nadine M. Melhem,Alison K. Merikangas,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Carolyn Noakes,Gudrun Nygren,Katerina Papanikolaou,Alistair T. Pagnamenta,Barbara Parrini,Tara Paton,Andrew Pickles,David J. Posey,Fritz Poustka,Jiannis Ragoussis,Regina Regan,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Sabine Schlitt,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Vera Stoppioni,Nuala Sykes,Raffaella Tancredi,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman van Engeland,John B. Vincent,Fred R. Volkmar,Jacob A. S. Vorstman,Simon Wallace,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Danielle Zurawiecki,Lonnie Zwaigenbaum,Anthony J. Bailey,Agatino Battaglia,Rita M. Cantor,Hilary Coon,Michael L. Cuccaro,Geraldine Dawson,Geraldine Dawson,Sean Ennis,Christine M. Freitag,Daniel H. Geschwind,Jonathan L. Haines,Sabine M. Klauck,William M. McMahon,Elena Maestrini,Judith Miller,Judith Miller,Anthony P. Monaco,Anthony P. Monaco,Stanley F. Nelson,John I. Nurnberger,Guiomar Oliveira,Jeremy R. Parr,Margaret A. Pericak-Vance,Joseph Piven,Gerard D. Schellenberg,Stephen W. Scherer,Astrid M. Vicente,Astrid M. Vicente,Thomas H. Wassink,Ellen M. Wijsman,Catalina Betancur,Catalina Betancur,Catalina Betancur,Joseph D. Buxbaum,Edwin H. Cook,Louise Gallagher,Michael Gill,Joachim Hallmayer,Andrew D. Paterson,James S. Sutcliffe,Peter Szatmari,Veronica J. Vieland,Hakon Hakonarson,Bernie Devlin +148 more
TL;DR: Stage 2 of the Autism Genome Project genome-wide association study is reported, adding 1301 ASD families and bringing the total to 2705 families analysed, and it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.