E
Edwin H. Cook
Researcher at University of Illinois at Chicago
Publications - 339
Citations - 61045
Edwin H. Cook is an academic researcher from University of Illinois at Chicago. The author has contributed to research in topics: Autism & Heritability of autism. The author has an hindex of 102, co-authored 337 publications receiving 54518 citations. Previous affiliations of Edwin H. Cook include University of Chicago & University of Illinois at Urbana–Champaign.
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Analysis of shared heritability in common disorders of the brain
Verneri Anttila,Verneri Anttila,Brendan Bulik-Sullivan,Brendan Bulik-Sullivan,Hilary K. Finucane,Raymond K. Walters,Raymond K. Walters,Jose Bras,Laramie E. Duncan,Valentina Escott-Price,Guido J. Falcone,Padhraig Gormley,Rainer Malik,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Stephan Ripke,Zhi Wei,Dongmei Yu,Dongmei Yu,Phil Lee,Phil Lee,Patrick Turley,Patrick Turley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Vincent Chouraki,Yoichiro Kamatani,Claudine Berr,Claudine Berr,Luc Letenneur,Luc Letenneur,Didier Hannequin,Philippe Amouyel,Anne Boland,Jean-François Deleuze,Emmanuelle Duron,Badri N. Vardarajan,Christiane Reitz,Alison Goate,Matthew J. Huentelman,M. Ilyas Kamboh,Eric B. Larson,Eric B. Larson,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Hakon Hakonarson,Walter A. Kukull,Lindsay A. Farrer,Lisa L. Barnes,Thomas G. Beach,F. Yesim Demirci,Elizabeth Head,Christine M. Hulette,Gregory A. Jicha,John S. K. Kauwe,Jeffrey Kaye,James B. Leverenz,Allan I. Levey,Andrew P. Lieberman,Vernon S. Pankratz,Wayne W. Poon,Joseph F. Quinn,Joseph F. Quinn,Andrew J. Saykin,Lon S. Schneider,Amanda Smith,Joshua A. Sonnen,Joshua A. Sonnen,Robert S. Stern,Vivianna M. Van Deerlin,Linda J. Van Eldik,Denise Harold,Giancarlo Russo,David C. Rubinsztein,Anthony Bayer,Magda Tsolaki,Petra Proitsi,Nick C. Fox,Nick C. Fox,Harald Hampel,Michael John Owen,Simon Mead,Peter Passmore,Kevin Morgan,Markus M. Noethen,Martin N. Rossor,Michelle K. Lupton,Michelle K. Lupton,Per Hoffmann,Johannes Kornhuber,Brian A. Lawlor,Andrew McQuillin,Ammar Al-Chalabi,Ammar Al-Chalabi,Joshua C. Bis,Agustín Ruiz,Mercè Boada,Sudha Seshadri,Sudha Seshadri,Alexa S. Beiser,Kenneth Rice,Sven J. van der Lee,Philip L. De Jager,Daniel H. Geschwind,Matthias Riemenschneider,Steffi G. Riedel-Heller,Jerome I. Rotter,Gerhard Ransmayr,Bradley T. Hyman,Carlos Cruchaga,Montserrat Alegret,Bendik S. Winsvold,Priit Palta,Priit Palta,K.-H. Farh,K.-H. Farh,E. Cuenca-Leon,E. Cuenca-Leon,Nicholas A. Furlotte,Tobias Kurth,Lannie Ligthart,Gisela M. Terwindt,Tobias Freilinger,Tobias Freilinger,Caroline Ran,Scott D. Gordon,Guntram Borck,Hieab H.H. Adams,Terho Lehtimäki,Juho Wedenoja,Julie E. Buring,Markus Schuerks,Maria Gudlaug Hrafnsdottir,Jouke-Jan Hottenga,Brenda W.J.H. Penninx,Ville Artto,Mari A. Kaunisto,Salli Vepsäläinen,Nicholas G. Martin,Grant W. Montgomery,Grant W. Montgomery,Mitja I. Kurki,Eija Hämäläinen,Hailiang Huang,Hailiang Huang,Jie Huang,Cynthia Sandor,Caleb Webber,Caleb Webber,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Stefan Schreiber,Veikko Salomaa,Elizabeth Loehrer,Hartmut Goebel,Alfons Macaya,Patricia Pozo-Rosich,Thomas Hansen,Thomas Werge,Thomas Werge,Jaakko Kaprio,Andres Metspalu,Christian Kubisch,Michel D. Ferrari,Andrea Carmine Belin,Arn M. J. M. van den Maagdenberg,John-Anker Zwart,Dorret I. Boomsma,Nicholas Eriksson,Jes Olesen,Daniel I. Chasman,Daniel I. Chasman,Dale R. Nyholt,Andreja Avbersek,Larry Baum,Samuel F. Berkovic,Jonathan P. Bradfield,Russell J. Buono,Russell J. Buono,Russell J. Buono,Claudia B. Catarino,Claudia B. Catarino,Patrick Cossette,Peter De Jonghe,Chantal Depondt,Dennis J. Dlugos,Dennis J. Dlugos,Thomas N. Ferraro,Thomas N. Ferraro,Jacqueline A. French,Helle Hjalgrim,Jennifer Jamnadas-Khoda,Jennifer Jamnadas-Khoda,Reetta Kälviäinen,Wolfram S. Kunz,Holger Lerche,Costin Leu,Dick Lindhout,Dick Lindhout,Warren D. Lo,Warren D. Lo,Daniel H. Lowenstein,Mark McCormack,Mark McCormack,Rikke S. Møller,Anne M. Molloy,Ping-Wing Ng,Karen Oliver,Michael Privitera,Rodney A. Radtke,Ann-Kathrin Ruppert,Thomas Sander,Steven C. Schachter,Steven C. Schachter,Christoph J. Schankin,Christoph J. Schankin,Ingrid E. Scheffer,Ingrid E. Scheffer,Susanne Schoch,Sanjay M. Sisodiya,Philip E. M. Smith,Michael R. Sperling,Pasquale Striano,Rainer Surges,Rainer Surges,G. Neil Thomas,Frank Visscher,Christopher D. Whelan,Federico Zara,Erin L. Heinzen,Anthony G Marson,Anthony G Marson,Felicitas Becker,H. Stroink,Fritz Zimprich,Thomas Gasser,Thomas Gasser,Raphael Gibbs,Peter Heutink,Peter Heutink,Maria Martinez,Maria Martinez,Huw R. Morris,Manu Sharma,Mina Ryten,Kin Y. Mok,Kin Y. Mok,Sara L. Pulit,Sara L. Pulit,Sara L. Pulit,Steve Bevan,Elizabeth G. Holliday,John Attia,Thomas W.K. Battey,Giorgio B. Boncoraglio,Vincent Thijs,Wei-Min Chen,Braxton D. Mitchell,Braxton D. Mitchell,Peter M. Rothwell,Pankaj Sharma,Pankaj Sharma,Cathie Sudlow,Astrid M. Vicente,Hugh S. Markus,Christina Kourkoulis,Christina Kourkoulis,Joana Pera,Miriam R. Raffeld,Scott Silliman,Vesna Boraska Perica,Laura M. Thornton,Laura M. Huckins,N. William Rayner,N. William Rayner,Cathryn M. Lewis,Mònica Gratacòs,Filip Rybakowski,Anna Keski-Rahkonen,Anu Raevuori,Anu Raevuori,James I. Hudson,Ted Reichborn-Kjennerud,Ted Reichborn-Kjennerud,Palmiero Monteleone,Andreas Karwautz,Katrin Männik,Katrin Männik,Jessica H. Baker,Julie K. O'Toole,Sara E. Trace,Oliver S. P. Davis,Sietske G. Helder,Stefan Ehrlich,Beate Herpertz-Dahlmann,Unna N. Danner,Annemarie A. van Elburg,Maurizio Clementi,Monica Forzan,Elisa Docampo,Jolanta Lissowska,Joanna Hauser,Alfonso Tortorella,Mario Maj,Fragiskos Gonidakis,Konstantinos Tziouvas,Hana Papezova,Zeynep Yilmaz,Gudrun Wagner,Sarah Cohen-Woods,Stefan Herms,Antonio Julià,Raquel Rabionet,Danielle M. Dick,Samuli Ripatti,Samuli Ripatti,Ole A. Andreassen,Ole A. Andreassen,Thomas Espeseth,Thomas Espeseth,Astri J. Lundervold,Vidar M. Steen,Vidar M. Steen,Dalila Pinto,Stephen W. Scherer,Stephen W. Scherer,Harald N. Aschauer,Alexandra Schosser,Lars Alfredsson,Leonid Padyukov,Katherine A. Halmi,James E. Mitchell,Michael Strober,Andrew W. Bergen,Walter H. Kaye,Jin P. Szatkiewicz,Bru Cormand,Josep Antoni Ramos-Quiroga,Cristina Sánchez-Mora,Cristina Sánchez-Mora,Marta Ribasés,Marta Ribasés,Miguel Casas,Amaia Hervás,Maria Arranz,Jan Haavik,Jan Haavik,Tetyana Zayats,Tetyana Zayats,Stefan Johansson,Stefan Johansson,Nigel Williams,Astrid Dempfle,Aribert Rothenberger,Jonna Kuntsi,Robert D. Oades,Tobias Banaschewski,Barbara Franke,Jan K. Buitelaar,Alejandro Arias Vasquez,Alysa E. Doyle,Andreas Reif,Klaus-Peter Lesch,Klaus-Peter Lesch,Klaus-Peter Lesch,Christine M. Freitag,Olga Rivero,Haukur Palmason,Marcel Romanos,Kate Langley,Marcella Rietschel,Stephanie H. Witt,Soeren Dalsgaard,Soeren Dalsgaard,Anders D. Børglum,Irwin D. Waldman,Beth Wilmot,Nikolas Molly,Claiton H.D. Bau,Jennifer Crosbie,Russell Schachar,Russell Schachar,Sandra K.,James J. McGough,Eugenio H. Grevet,Sarah E. Medland,Elise B. Robinson,Elise B. Robinson,Lauren A. Weiss,Elena Bacchelli,Anthony J. Bailey,Vanessa H. Bal,Agatino Battaglia,Catalina Betancur,Patrick Bolton,Rita M. Cantor,Patrícia B. S. Celestino-Soper,Geraldine Dawson,Silvia De Rubeis,Frederico Duque,Andrew Green,Andrew Green,Sabine M. Klauck,Marion Leboyer,Marion Leboyer,Pat Levitt,Pat Levitt,Elena Maestrini,Shrikant M. Mane,Daniel Moreno-De-Luca,Daniel Moreno-De-Luca,Jeremy R. Parr,Jeremy R. Parr,Jeremy R. Parr,Regina Regan,Abraham Reichenberg,Sven Sandin,Sven Sandin,Jacob A. S. Vorstman,Thomas H. Wassink,Ellen M. Wijsman,Edwin H. Cook,Susan L. Santangelo,Susan L. Santangelo,Richard Delorme,Richard Delorme,Bernadette Rogé,Bernadette Rogé,Tiago R. Magalhaes,Dan E. Arking,Thomas G. Schulze,Robert C. Thompson,Robert C. Thompson,Jana Strohmaier,Keith Matthews,Keith Matthews,Ingrid Melle,Ingrid Melle,Derek W. Morris,Douglas Blackwood,Andrew M. McIntosh,Sarah E. Bergen,Martin Schalling,Martin Schalling,Stéphane Jamain,Stéphane Jamain,Anna Maaser,Anna Maaser,Sascha B. Fischer,Sascha B. Fischer,Céline S. Reinbold,Céline S. Reinbold,Janice M. Fullerton,Janice M. Fullerton,Jose Guzman-Parra,Fermín Mayoral,Peter R. Schofield,Peter R. Schofield,Sven Cichon,Sven Cichon,Sven Cichon,Thomas W. Mühleisen,Thomas W. Mühleisen,Franziska Degenhardt,Johannes Schumacher,Michael Bauer,Philip B. Mitchell,Philip B. Mitchell,Elliot S. Gershon,John P. Rice,James B. Potash,Peter P. Zandi,Nicholas John Craddock,I. Nicol Ferrier,Martin Alda,Martin Alda,Guy A. Rouleau,Guy A. Rouleau,Gustavo Turecki,Roel A. Ophoff,Carlos N. Pato,Adebayo Anjorin,Eli A. Stahl,Eli A. Stahl,Markus Leber,Piotr M. Czerski,Cristiana Cruceanu,Ian Jones,Danielle Posthuma,Danielle Posthuma,Till F. M. Andlauer,Till F. M. Andlauer,Andreas J. Forstner,Fabian Streit,Bernhard T. Baune,Tracy Air,Grant Sinnamon,Grant Sinnamon,Naomi R. Wray,Donald J. MacIntyre,David J. Porteous,Georg Homuth,Margarita Rivera,Margarita Rivera,Jakob Grove,Christel M. Middeldorp,Christel M. Middeldorp,Christel M. Middeldorp,Ian B. Hickie,Michele L. Pergadia,Divya Mehta,Divya Mehta,Johannes H. Smit,Johannes H. Smit,Rick Jansen,Eco J. C. de Geus,Eco J. C. de Geus,Erin C. Dunn,Qingqin S. Li,Matthias Nauck,Robert A. Schoevers,Aartjan T.F. Beekman,James A. Knowles,Alexander Viktorin,Paul D. Arnold,Paul D. Arnold,Cathy L. Barr,Cathy L. Barr,Cathy L. Barr,Gabriel Bedoya-Berrio,O. Joseph Bienvenu,Helena Brentani,Christie L. Burton,Beatriz Camarena,Carolina Cappi,Danielle C. Cath,Maria Cristina Cavallini,Daniele Cusi,Sabrina M. Darrow,Damiaan Denys,Damiaan Denys,Eske M. Derks,Andrea Dietrich,Andrea Dietrich,Thomas V. Fernandez,Martijn Figee,Martijn Figee,Nelson B. Freimer,Gloria Gerber,Marco A. Grados,Erica Greenberg,Gregory L. Hanna,Andreas Hartmann,Matthew E. Hirschtritt,Pieter J. Hoekstra,Alden Y. Huang,Alden Y. Huang,Chaim Huyser,Cornelia Illmann,Michael A. Jenike,Samuel Kuperman,Bennett L. Leventhal,Christine Lochner,Gholson J. Lyon,Fabio Macciardi,Marcos Madruga-Garrido,Irene A. Malaty,Athanasios Maras,Lauren M. McGrath,Euripedes Constantino Miguel,Pablo Mir,Gerald Nestadt,Humberto Nicolini,Michael S. Okun,Andrew J. Pakstis,Peristera Paschou,John Piacentini,Christopher Pittenger,Kerstin J. Plessen,Kerstin J. Plessen,Vasily Ramensky,Eliana Marisa Ramos,Victor I. Reus,Margaret A. Richter,Margaret A. Richter,Mark A. Riddle,Mary M. Robertson,Veit Roessner,Maria Conceição do Rosário,Maria Conceição do Rosário,Jack Samuels,Paul Sandor,Paul Sandor,Dan J. Stein,Dan J. Stein,Fotis Tsetsos,Filip Van Nieuwerburgh,Sarah Weatherall,Jens R. Wendland,Tomasz Wolańczyk,Yulia Worbe,Gwyneth Zai,Fernando S. Goes,Nicole C.R. McLaughlin,Nicole C.R. McLaughlin,Paul S. Nestadt,Hans-Jörgen Grabe,Christel Depienne,Christel Depienne,Christel Depienne,Anuar Konkashbaev,Nuria Lanzagorta,Ana Victoria Valencia-Duarte,Ana Victoria Valencia-Duarte,Elvira Bramon,Nancy G. Buccola,Wiepke Cahn,Murray J. Cairns,Siow A. Chong,David Cohen,Benedicto Crespo-Facorro,Benedicto Crespo-Facorro,James J. Crowley,Michael Davidson,Lynn E. DeLisi,Lynn E. DeLisi,Timothy G. Dinan,Gary Donohoe,Elodie Drapeau,Jubao Duan,Jubao Duan,Lieuwe de Haan,David M. Hougaard,Sena Karachanak-Yankova,Andrey Khrunin,Janis Klovins,Vaidutis Kučinskas,Jimmy Lee Chee Keong,Svetlana A. Limborska,Carmel M. Loughland,Jouko Lönnqvist,Jouko Lönnqvist,Brion S. Maher,Manuel Mattheisen,Manuel Mattheisen,Colm McDonald,Kieran C. Murphy,Igor Nenadic,Jim van Os,Jim van Os,Jim van Os,Christos Pantelis,Christos Pantelis,Michele T. Pato,Tracey L. Petryshen,Tracey L. Petryshen,Digby Quested,Digby Quested,Panos Roussos,Alan R. Sanders,Alan R. Sanders,Ulrich Schall,Sibylle G. Schwab,Kang Sim,Kang Sim,Hon-Cheong So,Hon-Cheong So,Elisabeth Stoegmann,Elisabeth Stoegmann,Mythily Subramaniam,Draga Toncheva,John L. Waddington,James T.R. Walters,Mark Weiser,Mark Weiser,Wei Cheng,Robert C. Cloninger,David Curtis,David Curtis,Pablo V. Gejman,Pablo V. Gejman,Frans Henskens,Morten Mattingsdal,Sang-Yun Oh,Sang-Yun Oh,Rodney J. Scott,Rodney J. Scott,Bradley T. Webb,Gerome Breen,Claire Churchhouse,Claire Churchhouse,Cynthia M. Bulik,Cynthia M. Bulik,Mark J. Daly,Mark J. Daly,Martin Dichgans,Stephen V. Faraone,Rita Guerreiro,Peter Holmans,Kenneth S. Kendler,Bobby P. C. Koeleman,Carol A. Mathews,Alkes L. Price,Alkes L. Price,Jeremiah M. Scharf,Pamela Sklar,Julie Williams,Nicholas W. Wood,Chris Cotsapas,Chris Cotsapas,Aarno Palotie,Jordan W. Smoller,Jordan W. Smoller,Patrick F. Sullivan,Jonathan Rosand,Aiden Corvin,Aiden Corvin,Benjamin M. Neale,Benjamin M. Neale +720 more
TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
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
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner,Kai Wang,Guiqing Cai,Olena Korvatska,Cecilia E. Kim,Shawn Wood,Haitao Zhang,Annette Estes,Camille W. Brune,Jonathan P. Bradfield,Marcin Imielinski,Edward C. Frackelton,Jennifer Reichert,Emily L. Crawford,Jeffrey Munson,Patrick M. A. Sleiman,Rosetta M. Chiavacci,Kiran Annaiah,Kelly A. Thomas,Cuiping Hou,Wendy Glaberson,James H. Flory,Frederick G. Otieno,Maria Garris,Latha Soorya,Lambertus Klei,Joseph Piven,Kacie J. Meyer,Evdokia Anagnostou,Takeshi Sakurai,Rachel M. Game,Danielle S. Rudd,Danielle Zurawiecki,Christopher J. McDougle,Lea K. Davis,Judith Miller,David J. Posey,Shana M. Michaels,Alexander Kolevzon,Jeremy M. Silverman,Raphael Bernier,Susan E. Levy,Robert T. Schultz,Geraldine Dawson,Thomas Owley,William M. McMahon,Thomas H. Wassink,John A. Sweeney,John I. Nurnberger,Hilary Coon,James S. Sutcliffe,Nancy J. Minshew,Struan F.A. Grant,Maja Bucan,Edwin H. Cook,Joseph D. Buxbaum,Bernie Devlin,Gerard D. Schellenberg,Hakon Hakonarson +58 more
TL;DR: Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.
Journal ArticleDOI
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephen Sanders,A. Gulhan Ercan-Sencicek,Vanessa Hus,Rui Luo,Michael T. Murtha,Daniel Moreno-De-Luca,Su H. Chu,Michael P. Moreau,Abha R. Gupta,Susanne Thomson,Christopher E. Mason,Kaya Bilguvar,Patrícia B. S. Celestino-Soper,Murim Choi,Emily L. Crawford,Lea K. Davis,Nicole R. Davis Wright,Rahul M. Dhodapkar,Michael DiCola,Nicholas M. DiLullo,Thomas V. Fernandez,Vikram Fielding-Singh,Daniel O. Fishman,Stephanie Frahm,Rouben Garagaloyan,Gerald Goh,Sindhuja Kammela,Lambertus Klei,Jennifer K. Lowe,Sabata C. Lund,Anna D. McGrew,Kyle A. Meyer,William J. Moffat,John D. Murdoch,Brian J. O'Roak,Gordon T. Ober,Rebecca S. Pottenger,Melanie J. Raubeson,Youeun Song,Qi Wang,Brian L. Yaspan,Timothy W. Yu,Ilana R. Yurkiewicz,Arthur L. Beaudet,Rita M. Cantor,Martin Curland,Dorothy E. Grice,Murat Gunel,Richard P. Lifton,Shrikant Mane,Donna M. Martin,Chad A. Shaw,Michael Sheldon,Jay A. Tischfield,Christopher A. Walsh,Eric M. Morrow,David H. Ledbetter,Eric Fombonne,Catherine Lord,Christa Lese Martin,Andrew Brooks,James S. Sutcliffe,Edwin H. Cook,Daniel H. Geschwind,Kathryn Roeder,Bernie Devlin,Matthew W. State +66 more
TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.
Journal ArticleDOI
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephen Sanders,Xin He,A. Jeremy Willsey,A. Gulhan Ercan-Sencicek,Kaitlin E. Samocha,Kaitlin E. Samocha,A. Ercument Cicek,A. Ercument Cicek,Michael T. Murtha,Vanessa H. Bal,Somer L. Bishop,Shan Dong,Arthur P. Goldberg,Cai Jinlu,John F. Keaney,Lambertus Klei,Jeffrey D. Mandell,Daniel Moreno-De-Luca,Christopher S. Poultney,Elise B. Robinson,Elise B. Robinson,Louw Smith,Tor Solli-Nowlan,Mack Y. Su,Nicole A. Teran,Michael F. Walker,Donna M. Werling,Arthur L. Beaudet,Rita M. Cantor,Eric Fombonne,Daniel H. Geschwind,Dorothy E. Grice,Catherine Lord,Jennifer K. Lowe,Shrikant Mane,Donna M. Martin,Eric M. Morrow,Michael E. Talkowski,James S. Sutcliffe,Christopher A. Walsh,Timothy W. Yu,David H. Ledbetter,Christa Lese Martin,Edwin H. Cook,Joseph D. Buxbaum,Mark J. Daly,Mark J. Daly,Bernie Devlin,Kathryn Roeder,Matthew W. State +49 more
TL;DR: Analysis of de novo CNVs from the full Simons Simplex Collection replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci, including 6 CNV regions.