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Carolyn Noakes
Researcher at University of Toronto
Publications - 5
Citations - 3087
Carolyn Noakes is an academic researcher from University of Toronto. The author has contributed to research in topics: Genome-wide association study & Copy-number variation. The author has an hindex of 5, co-authored 5 publications receiving 2882 citations. Previous affiliations of Carolyn Noakes include University of California, Los Angeles.
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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
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
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.
Journal ArticleDOI
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Abdul Noor,Annabel Whibley,Christian R. Marshall,Peter J. Gianakopoulos,Amélie Piton,Andrew R. Carson,M Orlic-Milacic,Anath C. Lionel,Daisuke Sato,Dalila Pinto,Irene Drmic,Carolyn Noakes,Lili Senman,Xiaoyun Zhang,Rong Mo,Julie Gauthier,Jennifer Crosbie,Alistair T. Pagnamenta,Jeffrey Munson,Annette Estes,Andreas Fiebig,Andre Franke,Stefan Schreiber,Alexandre F.R. Stewart,Robert Roberts,Ruth McPherson,Stephen J. Guter,Edwin H. Cook,Geraldine Dawson,Gerard D. Schellenberg,Agatino Battaglia,Elena Maestrini,Linda Jeng,Terry Hutchison,Evica Rajcan-Separovic,Albert E. Chudley,Suzanne M E Lewis,Xudong Liu,Jeanette J. A. Holden,Bridget A. Fernandez,Lonnie Zwaigenbaum,Susan E. Bryson,Wendy Roberts,Peter Szatmari,Louise Gallagher,Michael R. Stratton,Jozef Gecz,Angela F. Brady,Charles E. Schwartz,Russell Schachar,Anthony P. Monaco,Guy A. Rouleau,Chi-chung Hui,F. Lucy Raymond,Stephen W. Scherer,John B. Vincent +55 more
TL;DR: Genetic analysis in thousands of patients and control subjects suggests that the PTCHD1 gene may be part of the Hedgehog signaling pathway, which is important in embryonic development, and suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.
Journal ArticleDOI
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Melissa T. Carter,Sarah M. Nikkel,Bridget A. Fernandez,Christian R. Marshall,Abdul Noor,Anath C. Lionel,Anath C. Lionel,Aparna Prasad,Dalila Pinto,Ann M. Joseph-George,Carolyn Noakes,C Fairbrother-Davies,Wendy Roberts,John B. Vincent,Rosanna Weksberg,Stephen W. Scherer,Stephen W. Scherer +16 more
TL;DR: Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder are identified and these deletions are linked to autism.