Stephen W Scherer

Stephen W Scherer

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Stephen W Scherer

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A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.

Am J Psychiatry 2019 Aug 15;176(8):643-650. Epub 2019 Feb 15.

The Department of Biochemistry and Molecular Genetics, Human Medical Genetics and Genomics Program and Neuroscience Program, University of Colorado School of Medicine, Aurora (Davis, Heft, Sikela); the McLaughlin Centre and the Department of Molecular Genetics, University of Toronto, and the Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto (Scherer).

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http://dx.doi.org/10.1176/appi.ajp.2018.18080993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6675654PMC
August 2019

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Authors:
Hunna J Watson Zeynep Yilmaz Laura M Thornton Christopher Hübel Jonathan R I Coleman Héléna A Gaspar Julien Bryois Anke Hinney Virpi M Leppä Manuel Mattheisen Sarah E Medland Stephan Ripke Shuyang Yao Paola Giusti-Rodríguez Ken B Hanscombe Kirstin L Purves Roger A H Adan Lars Alfredsson Tetsuya Ando Ole A Andreassen Jessica H Baker Wade H Berrettini Ilka Boehm Claudette Boni Vesna Boraska Perica Katharina Buehren Roland Burghardt Matteo Cassina Sven Cichon Maurizio Clementi Roger D Cone Philippe Courtet Scott Crow James J Crowley Unna N Danner Oliver S P Davis Martina de Zwaan George Dedoussis Daniela Degortes Janiece E DeSocio Danielle M Dick Dimitris Dikeos Christian Dina Monika Dmitrzak-Weglarz Elisa Docampo Laramie E Duncan Karin Egberts Stefan Ehrlich Geòrgia Escaramís Tõnu Esko Xavier Estivill Anne Farmer Angela Favaro Fernando Fernández-Aranda Manfred M Fichter Krista Fischer Manuel Föcker Lenka Foretova Andreas J Forstner Monica Forzan Christopher S Franklin Steven Gallinger Ina Giegling Johanna Giuranna Fragiskos Gonidakis Philip Gorwood Monica Gratacos Mayora Sébastien Guillaume Yiran Guo Hakon Hakonarson Konstantinos Hatzikotoulas Joanna Hauser Johannes Hebebrand Sietske G Helder Stefan Herms Beate Herpertz-Dahlmann Wolfgang Herzog Laura M Huckins James I Hudson Hartmut Imgart Hidetoshi Inoko Vladimir Janout Susana Jiménez-Murcia Antonio Julià Gursharan Kalsi Deborah Kaminská Jaakko Kaprio Leila Karhunen Andreas Karwautz Martien J H Kas James L Kennedy Anna Keski-Rahkonen Kirsty Kiezebrink Youl-Ri Kim Lars Klareskog Kelly L Klump Gun Peggy S Knudsen Maria C La Via Stephanie Le Hellard Robert D Levitan Dong Li Lisa Lilenfeld Bochao Danae Lin Jolanta Lissowska Jurjen Luykx Pierre J Magistretti Mario Maj Katrin Mannik Sara Marsal Christian R Marshall Morten Mattingsdal Sara McDevitt Peter McGuffin Andres Metspalu Ingrid Meulenbelt Nadia Micali Karen Mitchell Alessio Maria Monteleone Palmiero Monteleone Melissa A Munn-Chernoff Benedetta Nacmias Marie Navratilova Ioanna Ntalla Julie K O'Toole Roel A Ophoff Leonid Padyukov Aarno Palotie Jacques Pantel Hana Papezova Dalila Pinto Raquel Rabionet Anu Raevuori Nicolas Ramoz Ted Reichborn-Kjennerud Valdo Ricca Samuli Ripatti Franziska Ritschel Marion Roberts Alessandro Rotondo Dan Rujescu Filip Rybakowski Paolo Santonastaso André Scherag Stephen W Scherer Ulrike Schmidt Nicholas J Schork Alexandra Schosser Jochen Seitz Lenka Slachtova P Eline Slagboom Margarita C T Slof-Op 't Landt Agnieszka Slopien Sandro Sorbi Beata Świątkowska Jin P Szatkiewicz Ioanna Tachmazidou Elena Tenconi Alfonso Tortorella Federica Tozzi Janet Treasure Artemis Tsitsika Marta Tyszkiewicz-Nwafor Konstantinos Tziouvas Annemarie A van Elburg Eric F van Furth Gudrun Wagner Esther Walton Elisabeth Widen Eleftheria Zeggini Stephanie Zerwas Stephan Zipfel Andrew W Bergen Joseph M Boden Harry Brandt Steven Crawford Katherine A Halmi L John Horwood Craig Johnson Allan S Kaplan Walter H Kaye James E Mitchell Catherine M Olsen John F Pearson Nancy L Pedersen Michael Strober Thomas Werge David C Whiteman D Blake Woodside Garret D Stuber Scott Gordon Jakob Grove Anjali K Henders Anders Juréus Katherine M Kirk Janne T Larsen Richard Parker Liselotte Petersen Jennifer Jordan Martin Kennedy Grant W Montgomery Tracey D Wade Andreas Birgegård Paul Lichtenstein Claes Norring Mikael Landén Nicholas G Martin Preben Bo Mortensen Patrick F Sullivan Gerome Breen Cynthia M Bulik

Nat Genet 2019 Aug 15;51(8):1207-1214. Epub 2019 Jul 15.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/s41588-019-0439-2DOI Listing
August 2019

Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.

Data Brief 2019 Aug 2;25:104203. Epub 2019 Jul 2.

Department of Biochemistry and Medical Genetics, The George and Fay Yee Centre for Healthcare Innovation, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.1016/j.dib.2019.104203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626884PMC
August 2019

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

PLoS One 2019 11;14(6):e0217846. Epub 2019 Jun 11.

Department of Biochemistry and Medical Genetics and The George and Fay Yee Centre for Healthcare Innovation, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217846PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559655PMC
June 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Dominant mutation causes intellectual disability with remitting epilepsy.

Ann Clin Transl Neurol 2019 Apr 7;6(4):807-811. Epub 2019 Mar 7.

Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada.

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http://dx.doi.org/10.1002/acn3.727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469342PMC
April 2019

STXBP1 encephalopathy is associated with awake bruxism.

Epilepsy Behav 2019 Mar 14;92:121-124. Epub 2019 Jan 14.

Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183095
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http://dx.doi.org/10.1016/j.yebeh.2018.12.018DOI Listing
March 2019

deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Ann Clin Transl Neurol 2018 Dec 24;5(12):1617-1621. Epub 2018 Oct 24.

Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada.

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http://dx.doi.org/10.1002/acn3.677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292187PMC
December 2018

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Stem Cell Reports 2018 11 1;11(5):1211-1225. Epub 2018 Nov 1.

Genetics & Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 3H7, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183042
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http://dx.doi.org/10.1016/j.stemcr.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235011PMC
November 2018

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.

NPJ Genom Med 2018 19;3:27. Epub 2018 Sep 19.

2Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.

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http://dx.doi.org/10.1038/s41525-018-0066-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145925PMC
September 2018

Chorea-acanthocytosis: Homozygous 1-kb deletion in detected by whole-genome sequencing.

Neurol Genet 2018 Jun 18;4(3):e242. Epub 2018 May 18.

Centre for Applied Genomics (S.W., B.T., S.W.S.), The Hospital for Sick Children; Program in Genetics and Genome Biology (S.W., R.D., B.T., S.W.S., B.A.M.), The Hospital for Sick Children, Toronto, Ontario, Canada; Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad; Department of Biochemistry (I.M.U.), University of Health Sciences, Lahore; Division of Neurology (A.A.), Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan; Department of Molecular Genetics (S.W.S.), University of Toronto; McLaughlin Centre (S.W.S.), University of Toronto, Canada; and Department of Pediatrics (B.A.M.), University of Texas Southwestern, Dallas.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961193PMC
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva 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 A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A 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 Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik 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 Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats 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 Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Progress in the genetics of autism spectrum disorder.

Dev Med Child Neurol 2018 05 25;60(5):445-451. Epub 2018 Mar 25.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1111/dmcn.13717DOI Listing
May 2018

Copy number variation in fetal alcohol spectrum disorder.

Biochem Cell Biol 2018 04 13;96(2):161-166. Epub 2018 Mar 13.

a The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 04A, Canada.

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http://dx.doi.org/10.1139/bcb-2017-0241DOI Listing
April 2018

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder.

Patient Educ Couns 2018 02 29;101(2):352-361. Epub 2017 Jul 29.

Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada; McLaughlin Centre, University of Toronto, Toronto, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pec.2017.07.029DOI Listing
February 2018

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Twin Res Hum Genet 2018 02 8;21(1):1-11. Epub 2018 Jan 8.

Center of Neurodevelopmental Disorders (KIND),Department of Women's and Children's Health,Karolinska Institutet,Solna,Sweden.

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http://dx.doi.org/10.1017/thg.2017.69DOI Listing
February 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):93-100. Epub 2017 Nov 20.

Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.

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http://dx.doi.org/10.1002/ajmg.b.32608DOI Listing
January 2018

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Am J Hum Genet 2018 01;102(1):142-155

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777982PMC
January 2018

Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects.

Sci Rep 2017 12 6;7(1):17105. Epub 2017 Dec 6.

The Centre for Applied Genomics. The Hospital for Sick Children. Peter Gilgan Centre for Research and Learning, 686 Bay Street, Room 139800, Toronto, Ontario, M5G 0A4, Canada.

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http://dx.doi.org/10.1038/s41598-017-17361-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719030PMC
December 2017

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 2017

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.

Dialogues Clin Neurosci 2017 12;19(4):353-371

The Center for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Center and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213PMC
December 2017

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.

Genet Med 2017 11 4;19(11):1268-1275. Epub 2017 May 4.

Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.47DOI Listing
November 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Am J Med Genet A 2017 Nov 12;173(11):3070-3074. Epub 2017 Sep 12.

Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal, Montreal, Quebec.

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http://dx.doi.org/10.1002/ajmg.a.38354DOI Listing
November 2017

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

Hyperventilation-athetosis in deficiency (Bainbridge-Ropers) syndrome.

Neurol Genet 2017 Oct 22;3(5):e189. Epub 2017 Sep 22.

Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad, Pakistan; Program in Genetics and Genome Biology (R.D.) and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children, Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Department of Neurolgy (S.Y.K.), Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Gyeonggi-do, Republic of Korea; Program in Genetics and Genome Biology (B.A.M.), Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; and Departments of Pediatrics, Neurology, and Neurotherapeutics (B.A.M.), University of Texas Southwestern, Dallas.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610043PMC
October 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Neurol Genet 2017 Jun 23;3(3):e156. Epub 2017 May 23.

Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Pakistan; Program in Genetics and Genome Biology (R.D., B.A.M.), Division of Neurology (B.A.M.), Department of Paediatrics, and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children; Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; and Department of Pediatrics (M.D.A., R.A.A.), Division of Neurology, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.

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http://dx.doi.org/10.1212/NXG.0000000000000156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458666PMC
June 2017

Copy Number Variation in Tourette Syndrome.

Neuron 2017 Jun;94(6):1041-1043

Institute of Medical Science, University of Toronto, ON, Canada; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.06.017DOI Listing
June 2017

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

Am J Med Genet A 2017 May 3;173(5):1287-1293. Epub 2017 Apr 3.

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38176DOI Listing
May 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

NPJ Genom Med 2017 26;2:19. Epub 2017 May 26.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

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http://dx.doi.org/10.1038/s41525-017-0021-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677914PMC
May 2017

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.

Cell Rep 2016 11;17(7):1892-1904

Stem Cell and Cancer Research Institute, Faculty of Health Sciences, McMaster University, Hamilton, ON L8N 3Z5, Canada; Department of Biochemistry and Biomedical Sciences, Michael G. DeGroote School of Medicine, Faculty of Health Sciences, McMaster University, Hamilton, ON L8N 3Z5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.10.047DOI Listing
November 2016

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Am J Med Genet A 2016 09 17;170(9):2421-5. Epub 2016 Jun 17.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37802DOI Listing
September 2016

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

J Med Genet 2016 08 12;53(8):536-47. Epub 2016 Apr 12.

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103621DOI Listing
August 2016

Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.

Hum Mutat 2016 07 28;37(7):669-78. Epub 2016 Apr 28.

Defence Medical and Environmental Research Institute, DSO National Laboratories, Singapore.

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http://dx.doi.org/10.1002/humu.22996DOI Listing
July 2016

α5GABAA receptor deficiency causes autism-like behaviors.

Ann Clin Transl Neurol 2016 05 19;3(5):392-8. Epub 2016 Apr 19.

Department of Physiology University of Toronto Toronto Ontario Canada; Department of Anesthesia University of Toronto and Sunnybrook Health Sciences Centre Toronto Ontario Canada.

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http://dx.doi.org/10.1002/acn3.303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863752PMC
May 2016

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

J Pediatr 2016 Apr 26;171:313-6.e1-2. Epub 2016 Jan 26.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.060DOI Listing
April 2016

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Am J Med Genet B Neuropsychiatr Genet 2016 04 14;171B(3):377-82. Epub 2016 Jan 14.

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, France.

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http://dx.doi.org/10.1002/ajmg.b.32416DOI Listing
April 2016

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

Int J Cardiol 2016 Feb 22;204:115-21. Epub 2015 Nov 22.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Toronto Congenital Cardiac Centre for Adults & Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada; The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2015.11.127DOI Listing
February 2016

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

Pediatrics 2016 Jan 18;137(1). Epub 2015 Dec 18.

Department of Paediatrics, University of Toronto, Ontario, Canada; Surrey Place Center, Toronto, Ontario, Canada.

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2015-2672DOI Listing
January 2016

Genomic medicine goes mainstream.

NPJ Genom Med 2016 13;1:15001. Epub 2016 Jan 13.

The Centre for Applied Genomics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/npjgenmed.2015.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685286PMC
January 2016