Jacob Vorstman

Jacob Vorstman

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Jacob Vorstman

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Neurobiological perspective of 22q11.2 deletion syndrome.

Lancet Psychiatry 2019 Aug 5. Epub 2019 Aug 5.

Department of Psychiatry & Neuropsychology, Maastricht University, Maastricht, Netherlands.

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http://dx.doi.org/10.1016/S2215-0366(19)30076-8DOI Listing
August 2019

The 22q11.2 deletion syndrome as a model for idiopathic scoliosis - A hypothesis.

Med Hypotheses 2019 Jun 27;127:57-62. Epub 2019 Mar 27.

Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2019.03.024DOI Listing
June 2019

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Am J Med Genet A 2018 10 19;176(10):2146-2159. Epub 2018 May 19.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209527PMC
October 2018

Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 8;176(10):2182-2191. Epub 2018 Sep 8.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.40387
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http://dx.doi.org/10.1002/ajmg.a.40387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209526PMC
October 2018

White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline.

Psychol Med 2018 07 16;48(10):1655-1663. Epub 2017 Nov 16.

Department of Psychiatry,Rudolf Magnus Institute of Neuroscience, University Medical Center,Utrecht,The Netherlands.

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http://dx.doi.org/10.1017/S0033291717003142DOI Listing
July 2018

Preventive strategies for mental health.

Lancet Psychiatry 2018 07 15;5(7):591-604. Epub 2018 May 15.

Department of Psychiatry, University of Maryland School of Medicine, Maryland Psychiatric Research Center, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/S2215-0366(18)30057-9DOI Listing
July 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

Double Hits in Schizophrenia.

Hum Mol Genet 2018 May 14. Epub 2018 May 14.

Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddy175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049008PMC
May 2018

[Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome.

Child Neuropsychol 2018 Jan 9;24(1):1-19. Epub 2016 Sep 9.

a Department of Clinical Child and Adolescent Studies , Leiden University , Leiden , The Netherlands.

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http://dx.doi.org/10.1080/09297049.2016.1221064DOI Listing
January 2018

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

Autism genetics: opportunities and challenges for clinical translation.

Nat Rev Genet 2017 06 6;18(6):362-376. Epub 2017 Mar 6.

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, California 94305, USA.

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http://dx.doi.org/10.1038/nrg.2017.4DOI Listing
June 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

Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion.

Am J Med Genet B Neuropsychiatr Genet 2016 09 8;171(6):790-6. Epub 2016 Mar 8.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32441DOI Listing
September 2016

[In Process Citation].

Tijdschr Psychiatr 2015 ;57(8):613-4

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January 2016

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Unmet needs in paediatric psychopharmacology: Present scenario and future perspectives.

Eur Neuropsychopharmacol 2015 Oct 20;25(10):1513-31. Epub 2015 Jun 20.

Dept. Biomedical Sciences, Child & Adolescent NeuroPsychiatry Unit, University of Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1016/j.euroneuro.2015.06.009DOI Listing
October 2015

Genome-wide burden of deleterious coding variants increased in schizophrenia.

Nat Commun 2015 Jul 9;6:7501. Epub 2015 Jul 9.

Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/ncomms8501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499856PMC
July 2015

Behavioral phenotype in children with 22q11DS: agreement between parents and teachers.

Psychol Assess 2015 Mar 1;27(1):272-9. Epub 2014 Dec 1.

Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht.

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http://dx.doi.org/10.1037/a0038102DOI Listing
March 2015

Self-reported speech problems in adolescents and young adults with 22q11.2 deletion syndrome: a cross-sectional cohort study.

Arch Plast Surg 2014 Sep 15;41(5):472-9. Epub 2014 Sep 15.

Department of Plastic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.5999/aps.2014.41.5.472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179349PMC
September 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai 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 Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein 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 Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014

Using genetic findings in autism for the development of new pharmaceutical compounds.

Psychopharmacology (Berl) 2014 Mar 30;231(6):1063-78. Epub 2013 Nov 30.

Department of Psychiatry, Brain Center Rudolf Magnus, A001.468, University Medical Center Utrecht, Heidelberglaan 100, 3485 CX, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/s00213-013-3334-zDOI Listing
March 2014

Behavioral signatures related to genetic disorders in autism.

Mol Autism 2014 Feb 11;5(1):11. Epub 2014 Feb 11.

King's College London, Institute of Psychiatry, De Crespigny Park, London, UK.

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http://dx.doi.org/10.1186/2040-2392-5-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936826PMC
February 2014

Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study.

Res Dev Disabil 2013 Sep 29;34(9):2937-45. Epub 2013 Jun 29.

Department of Pediatric Psychology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ridd.2013.06.001DOI Listing
September 2013

The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder.

Appl Clin Genet 2009 10;2:7-13. Epub 2009 Mar 10.

University Medical Center Utrecht (UMC Utrecht), Utrecht, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681037PMC
June 2013

Genetic causes of developmental disorders.

Curr Opin Neurol 2013 Apr;26(2):128-36

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/WCO.0b013e32835f1a30DOI Listing
April 2013

Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis.

PLoS One 2012 22;7(6):e37852. Epub 2012 Jun 22.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037852PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3382234PMC
March 2013

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion.

Schizophr Res 2013 Jan 13;143(1):55-9. Epub 2012 Nov 13.

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.schres.2012.10.010DOI Listing
January 2013

No evidence that common genetic risk variation is shared between schizophrenia and autism.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 28;162B(1):55-60. Epub 2012 Nov 28.

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32121DOI Listing
January 2013

Behavior in preschool children with the 22q11.2 deletion syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):94-101. Epub 2012 Dec 13.

Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35685DOI Listing
January 2013

Association study of copy number variants with brain volume in schizophrenia patients and healthy controls.

Psychiatry Res 2012 Dec 1;200(2-3):1011-3. Epub 2012 May 1.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Huispostnummer A00.241, Heidelberglaan 100, 3584 CX, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.psychres.2012.04.007DOI Listing
December 2012

Successful electroconvulsive therapy in a young woman with chronic catatonia.

Prim Care Companion CNS Disord 2012 21;14(3). Epub 2012 Jun 21.

Department of Psychiatry and Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.4088/PCC.11l01328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466030PMC
October 2012

Cognitive development in children with 22q11.2 deletion syndrome.

Br J Psychiatry 2012 Jun;200(6):462-8

Department of Paediatric Psychology, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1192/bjp.bp.111.097139DOI Listing
June 2012

Intelligence and visual motor integration in 5-year-old children with 22q11-deletion syndrome.

Res Dev Disabil 2012 Mar-Apr;33(2):334-40. Epub 2011 Nov 24.

Department of Pediatric Psychology, KA 00.004.0, University Medical Centre Utrecht, Postbus 85090, 3508 AB Utrecht, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S089142221100383
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http://dx.doi.org/10.1016/j.ridd.2011.10.004DOI Listing
May 2012

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Authors:
Jillian P Casey Tiago Magalhaes Judith M Conroy Regina Regan Naisha Shah Richard Anney Denis C Shields Brett S Abrahams Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Suzanne Foley Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jonathan Green Stephen J Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Janine A Lamb Marion Leboyer Ann Le Couteur Bennett L Leventhal Catherine Lord Sabata C Lund Elena Maestrini Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K Mirza Jeff Munson Stanley F Nelson Gudrun Nygren Guiomar Oliveira Alistair T Pagnamenta Katerina Papanikolaou Jeremy R Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L Rutter Ana F Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Jacob A S Vorstman Simon Wallace Kai Wang Thomas H Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Daniel H Geschwind Jonathan L Haines Joachim Hallmayer Anthony P Monaco John I Nurnberger Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Veronica J Vieland Ellen M Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.

School of Medicine and Medical Science University College, Dublin, Ireland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome?

Curr Opin Neurol 2012 Apr;25(2):131-7

Department of Medical Genetics, University of Cambridge, UK.

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http://dx.doi.org/10.1097/WCO.0b013e328352dd58DOI Listing
April 2012

Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome.

PLoS One 2011 5;6(10):e25882. Epub 2011 Oct 5.

Rudolf Magnus Institute of Neuroscience, Department of Child and Adolescent Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0025882PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3187802PMC
February 2012

Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism.

Eur J Hum Genet 2010 May 25;18(5):588-95. Epub 2009 Nov 25.

Rudolf Magnus Institute of Neurosciences, Department of Psychiatry, University Medical Centre, Heidelberglaan, Utrecht, The Netherlands.

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http://www.nature.com/articles/ejhg2009206
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http://dx.doi.org/10.1038/ejhg.2009.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987310PMC
May 2010

Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes.

PLoS One 2010 May 28;5(5):e10887. Epub 2010 May 28.

Department of Children and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878316PMC
May 2010

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):430-3

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.30827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127866PMC
April 2009

Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.

Neuropsychopharmacology 2009 Feb 3;34(3):739-46. Epub 2008 Sep 3.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/npp.2008.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817942PMC
February 2009

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.

Schizophr Res 2008 Jan 26;98(1-3):84-8. Epub 2007 Oct 26.

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.schres.2007.09.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810966PMC
January 2008

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

Genome Res 2007 Apr 9;17(4):470-81. Epub 2007 Mar 9.

The Division of Human Genetics, The Children's Hospital of Philadelphia and the Joseph Stokes Jr Research Institute, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1101/gr.6130907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832094PMC
April 2007

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

J Am Acad Child Adolesc Psychiatry 2006 Sep;45(9):1104-13

Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/01.chi.0000228131.56956.c1DOI Listing
September 2006