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Stephen J. Guter
Researcher at University of Illinois at Chicago
Publications - 40
Citations - 12715
Stephen J. Guter is an academic researcher from University of Illinois at Chicago. The author has contributed to research in topics: Autism & Autism spectrum disorder. The author has an hindex of 25, co-authored 40 publications receiving 10642 citations. Previous affiliations of Stephen J. Guter include University of Chicago & University of Miami.
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Journal ArticleDOI
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis,Xin-Xin He,Arthur P. Goldberg,Christopher S. Poultney,Kaitlin E. Samocha,A. Ercument Cicek,Yan Kou,Li Liu,Menachem Fromer,Menachem Fromer,R. Susan Walker,Tarjinder Singh,Lambertus Klei,Jack A. Kosmicki,Shih-Chen Fu,Branko Aleksic,Monica Biscaldi,Patrick Bolton,Jessica M. Brownfeld,Jinlu Cai,Nicholas G. Campbell,Angel Carracedo,Angel Carracedo,Maria H. Chahrour,Andreas G. Chiocchetti,Hilary Coon,Emily L. Crawford,Lucy Crooks,Sarah Curran,Geraldine Dawson,Eftichia Duketis,Bridget A. Fernandez,Louise Gallagher,Evan T. Geller,Stephen J. Guter,R. Sean Hill,R. Sean Hill,Iuliana Ionita-Laza,Patricia Jiménez González,Helena Kilpinen,Sabine M. Klauck,Alexander Kolevzon,Irene Lee,Jing Lei,Terho Lehtimäki,Chiao-Feng Lin,Avi Ma'ayan,Christian R. Marshall,Alison L. McInnes,Benjamin M. Neale,Michael John Owen,Norio Ozaki,Mara Parellada,Jeremy R. Parr,Shaun Purcell,Kaija Puura,Deepthi Rajagopalan,Karola Rehnström,Abraham Reichenberg,Aniko Sabo,Michael Sachse,Stephen Sanders,Chad M. Schafer,Martin Schulte-Rüther,David Skuse,David Skuse,Christine Stevens,Peter Szatmari,Kristiina Tammimies,Otto Valladares,Annette Voran,Li-San Wang,Lauren A. Weiss,A. Jeremy Willsey,Timothy W. Yu,Timothy W. Yu,Ryan K. C. Yuen,Edwin H. Cook,Christine M. Freitag,Michael Gill,Christina M. Hultman,Thomas Lehner,Aarno Palotie,Aarno Palotie,Aarno Palotie,Gerard D. Schellenberg,Pamela Sklar,Matthew W. State,James S. Sutcliffe,Christopher A. Walsh,Christopher A. Walsh,Stephen W. Scherer,Michael E. Zwick,Jeffrey C. Barrett,David J. Cutler,Kathryn Roeder,Bernie Devlin,Mark J. Daly,Mark J. Daly,Joseph D. Buxbaum +99 more
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
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
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom,F. Kyle Satterstrom,Jack A. Kosmicki,Jiebiao Wang,Michael S. Breen,Silvia De Rubeis,Joon Yong An,Joon Yong An,Minshi Peng,Ryan Collins,Jakob Grove,Jakob Grove,Lambertus Klei,Christine Stevens,Jennifer Reichert,Maureen Mulhern,Mykyta Artomov,Sherif Gerges,Brooke Sheppard,Xinyi Xu,Aparna Bhaduri,Utku Norman,Harrison Brand,Grace Schwartz,Rachel Nguyen,Elizabeth E. Guerrero,Caroline Dias,Branko Aleksic,Richard Anney,Mafalda Barbosa,Somer L. Bishop,Alfredo Brusco,Jonas Bybjerg-Grauholm,Angel Carracedo,Marcus C.Y. Chan,Andreas G. Chiocchetti,Brian H.Y. Chung,Hilary Coon,Michael L. Cuccaro,Aurora Currò,Bernardo Dalla Bernardina,Ryan N. Doan,Enrico Domenici,Shan Dong,Chiara Fallerini,Montserrat Fernández-Prieto,Giovanni Battista Ferrero,Christine M. Freitag,Menachem Fromer,J. Jay Gargus,Daniel H. Geschwind,Elisa Giorgio,Javier González-Peñas,Stephen J. Guter,Danielle Halpern,Emily Hansen-Kiss,Xin He,Gail E. Herman,Irva Hertz-Picciotto,David M. Hougaard,Christina M. Hultman,Iuliana Ionita-Laza,Suma Jacob,Jesslyn Jamison,Astanand Jugessur,Miia Kaartinen,Gun Peggy Knudsen,Alexander Kolevzon,Itaru Kushima,So Lun Lee,Terho Lehtimäki,Elaine T. Lim,Carla Lintas,W. Ian Lipkin,Diego Lopergolo,Fátima Lopes,Yunin Ludena,Patrícia Maciel,Per Magnus,Behrang Mahjani,Nell Maltman,Dara S. Manoach,Gal Meiri,Idan Menashe,Judith Miller,Nancy J. Minshew,Eduarda Montenegro M. de Souza,Danielle de Paula Moreira,Eric M. Morrow,Ole Mors,Preben Bo Mortensen,Matthew W. Mosconi,Pierandrea Muglia,Benjamin M. Neale,Merete Nordentoft,Norio Ozaki,Aarno Palotie,Mara Parellada,Maria Rita Passos-Bueno,Margaret A. Pericak-Vance,Antonio M. Persico,Isaac N. Pessah,Kaija Puura,Abraham Reichenberg,Alessandra Renieri,Evelise Riberi,Elise B. Robinson,Elise B. Robinson,Kaitlin E. Samocha,Sven Sandin,Sven Sandin,Susan L. Santangelo,Susan L. Santangelo,Gerry Schellenberg,Stephen W. Scherer,Sabine Schlitt,Rebecca J. Schmidt,Lauren M. Schmitt,Isabela Maya Wahys Silva,Tarjinder Singh,Tarjinder Singh,Paige M. Siper,Moyra Smith,Gabriela Soares,Camilla Stoltenberg,Pål Surén,Ezra Susser,John A. Sweeney,Peter Szatmari,Lara Tang,Flora Tassone,Karoline Teufel,Elisabetta Trabetti,Maria del Pilar Trelles,Christopher A. Walsh,Lauren A. Weiss,Thomas Werge,Donna M. Werling,Emilie M. Wigdor,Emilie M. Wigdor,Emma Wilkinson,A. Jeremy Willsey,Timothy W. Yu,Mullin H.C. Yu,Ryan Yuen,Elaine Cristina Zachi,Esben Agerbo,Thomas Damm Als,Vivek Appadurai,Marie Bækvad-Hansen,Rich Belliveau,Alfonso Buil,Caitlin E. Carey,Felecia Cerrato,Kimberly Chambert,Claire Churchhouse,Claire Churchhouse,Søren Dalsgaard,Ditte Demontis,Ashley Dumont,Jacqueline I. Goldstein,Christine Søholm Hansen,Mads E. Hauberg,Mads E. Hauberg,Mads E. Hauberg,Mads V. Hollegaard,Daniel P. Howrigan,Hailiang Huang,Julian Maller,Alicia R. Martin,Joanna Martin,Manuel Mattheisen,Jennifer L. Moran,Jonatan Pallesen,Duncan S. Palmer,Carsten Bøcker Pedersen,Marianne Giørtz Pedersen,Timothy Poterba,Jesper Buchhave Poulsen,Stephan Ripke,Andrew J. Schork,Wesley K. Thompson,Patrick Turley,Raymond K. Walters,Catalina Betancur,Edwin H. Cook,Louise Gallagher,Michael Gill,James S. Sutcliffe,Audrey Thurm,Michael E. Zwick,Anders D. Børglum,Matthew W. State,A. Ercument Cicek,A. Ercument Cicek,Michael E. Talkowski,David J. Cutler,Bernie Devlin,Stephen Sanders,Kathryn Roeder,Mark J. Daly,Joseph D. Buxbaum +201 more
TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
Journal ArticleDOI
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto,Elsa Delaby,Elsa Delaby,Elsa Delaby,Daniele Merico,Mafalda Barbosa,Alison K. Merikangas,Lambertus Klei,Bhooma Thiruvahindrapuram,Xiao Xu,Robert Ziman,Zhuozhi Wang,Jacob A. S. Vorstman,Ann P. Thompson,Regina Regan,Regina Regan,Marion Pilorge,Marion Pilorge,Marion Pilorge,Giovanna Pellecchia,Alistair T. Pagnamenta,Bárbara Oliveira,Bárbara Oliveira,Christian R. Marshall,Tiago R. Magalhaes,Tiago R. Magalhaes,Jennifer K. Lowe,Jennifer L. Howe,Anthony J. Griswold,John R. Gilbert,Eftichia Duketis,Beth A. Dombroski,Maretha de Jonge,Michael L. Cuccaro,Emily L. Crawford,Catarina Correia,Catarina Correia,Judith Conroy,Inȇs C. Conceição,Inȇs C. Conceição,Andreas G. Chiocchetti,Jillian P. Casey,Jillian P. Casey,Guiqing Cai,Christelle Cabrol,Christelle Cabrol,Christelle Cabrol,Nadia Bolshakova,Elena Bacchelli,Richard Anney,Steven Gallinger,Michelle Cotterchio,Graham Casey,Lonnie Zwaigenbaum,Kerstin Wittemeyer,Kirsty Wing,Simon Wallace,Herman van Engeland,Ana Tryfon,Susanne Thomson,Latha Soorya,Bernadette Rogé,Wendy Roberts,Fritz Poustka,Susana Mouga,Nancy J. Minshew,L. Alison McInnes,Susan G. McGrew,Catherine Lord,Marion Leboyer,Ann Le Couteur,Alexander Kolevzon,Patricia Jiménez González,Suma Jacob,Suma Jacob,Richard Holt,Stephen J. Guter,Jonathan Green,Andrew Green,Andrew Green,Christopher Gillberg,Bridget A. Fernandez,Frederico Duque,Richard Delorme,Geraldine Dawson,Pauline Chaste,Cátia Café,Sean Brennan,Thomas Bourgeron,Patrick Bolton,Patrick Bolton,Sven Bölte,Raphael Bernier,Gillian Baird,Anthony J. Bailey,Evdokia Anagnostou,Joana Almeida,Ellen M. Wijsman,Veronica J. Vieland,Astrid M. Vicente,Astrid M. Vicente,Gerard D. Schellenberg,Margaret A. Pericak-Vance,Andrew D. Paterson,Jeremy R. Parr,Guiomar Oliveira,John I. Nurnberger,Anthony P. Monaco,Anthony P. Monaco,Elena Maestrini,Sabine M. Klauck,Hakon Hakonarson,Jonathan L. Haines,Daniel H. Geschwind,Christine M. Freitag,Susan E. Folstein,Sean Ennis,Sean Ennis,Hilary Coon,Agatino Battaglia,Peter Szatmari,James S. Sutcliffe,Joachim Hallmayer,Michael Gill,Edwin H. Cook,Joseph D. Buxbaum,Bernie Devlin,Louise Gallagher,Catalina Betancur,Catalina Betancur,Catalina Betancur,Stephen W. Scherer +131 more
TL;DR: For example, the authors analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability.