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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Identifieur interne : 000759 ( France/Analysis ); précédent : 000758; suivant : 000760

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Auteurs : Peter Szatmari [Canada] ; Andrew Paterson [Canada] ; Lonnie Zwaigenbaum [Canada] ; Wendy Roberts [Canada] ; Jessica Brian [Canada] ; Xiao-Qing Liu [Canada] ; John Vincent [Canada] ; Jennifer Skaug [Canada] ; Ann Thompson [Canada] ; Lili Senman [Canada] ; Lars Feuk [Canada] ; Cheng Qian [Canada] ; Susan Bryson [Canada] ; Marshall Jones [États-Unis] ; Christian Marshall [Canada] ; Stephen Scherer [Canada] ; Veronica Vieland [États-Unis] ; Christopher Bartlett [États-Unis] ; La Vonne Mangin [États-Unis] ; Rhinda Goedken [États-Unis] ; Alberto Segre [États-Unis] ; Margaret Pericak-Vance [États-Unis] ; Michael Cuccaro [États-Unis] ; John Gilbert [États-Unis] ; Harry Wright [États-Unis] ; Ruth Abramson [États-Unis] ; Catalina Betancur [France] ; Thomas Bourgeron [France] ; Christopher Gillberg [Suède] ; Marion Leboyer [France] ; Joseph Buxbaum [États-Unis] ; Kenneth Davis [États-Unis] ; Eric Hollander [États-Unis] ; Jeremy Silverman [États-Unis] ; Joachim Hallmayer [États-Unis] ; Linda Lotspeich [États-Unis] ; James Sutcliffe [États-Unis] ; Jonathan Haines [États-Unis] ; Susan Folstein [États-Unis] ; Joseph Piven [États-Unis] ; Thomas Wassink [États-Unis] ; Val Sheffield [États-Unis] ; Daniel Geschwind [États-Unis] ; Maja Bucan [États-Unis] ; Ted Brown [États-Unis] ; Rita Cantor [États-Unis] ; John Constantino [États-Unis] ; Conrad Gilliam [États-Unis] ; Martha Herbert [États-Unis] ; Clara Lajonchere [États-Unis] ; David Ledbetter [États-Unis] ; Christa Lese-Martin [États-Unis] ; Janet Miller [États-Unis] ; Stan Nelson [Allemagne] ; Carol Samango-Sprouse [États-Unis] ; Sarah Spence [États-Unis] ; Matthew State [Allemagne] ; Rudolph Tanzi [France] ; Hilary Coon [Italie] ; Geraldine Dawson [États-Unis] ; Bernie Devlin [États-Unis] ; Annette Estes [États-Unis] ; Pamela Flodman [États-Unis] ; Lambertus Klei [États-Unis] ; William Mcmahon [Italie] ; Nancy Minshew [États-Unis] ; Jeff Munson [États-Unis] ; Elena Korvatska [États-Unis] ; Patricia Rodier [États-Unis] ; Gerard Schellenberg [États-Unis] ; Moyra Smith [États-Unis] ; Anne Spence [États-Unis] ; Chris Stodgell [États-Unis] ; Ping Guo Tepper [États-Unis] ; Ellen Wijsman [États-Unis] ; Chang-En Yu [États-Unis] ; Bernadette Rogé [France] ; Carine Mantoulan [France] ; Kerstin Wittemeyer [Royaume-Uni] ; Annemarie Poustka [Allemagne] ; B Rbel Felder [Allemagne] ; Sabine Klauck [Allemagne] ; Claudia Schuster [Allemagne] ; Fritz Poustka [Allemagne] ; Sven Bölte [Allemagne] ; Sabine Feineis-Matthews [Allemagne] ; Evelyn Herbrecht [Allemagne] ; Gabi Schmötzer [Allemagne] ; John Tsiantis [Grèce] ; Katerina Papanikolaou [Grèce] ; Elena Maestrini [Italie] ; Elena Bacchelli [Italie] ; Francesca Blasi [Italie] ; Simona Carone [Italie] ; Claudio Toma [Italie] ; Herman Van Engeland [Pays-Bas] ; Maretha De Jonge [Pays-Bas] ; Chantal Kemner [Pays-Bas] ; Frederieke Koop [Pays-Bas] ; Marjolein Langemeijer [Pays-Bas] ; Channa Hijmans [Pays-Bas] ; Wouter Staal [Pays-Bas] ; Gillian Baird [Royaume-Uni] ; Patrick Bolton [Royaume-Uni] ; Michael Rutter [Royaume-Uni] ; Emma Weisblatt [France] ; Jonathan Green [Royaume-Uni] ; Catherine Aldred [Royaume-Uni] ; Julie-Anne Wilkinson [Royaume-Uni] ; Andrew Pickles [Royaume-Uni] ; Ann Le Couteur [Royaume-Uni] ; Tom Berney [Royaume-Uni] ; Helen Mcconachie [Royaume-Uni] ; Anthony Bailey [Royaume-Uni] ; Kostas Francis [Royaume-Uni] ; Gemma Honeyman [Royaume-Uni] ; Aislinn Hutchinson [Royaume-Uni] ; Jeremy Parr [Royaume-Uni] ; Simon Wallace [Royaume-Uni] ; Anthony Monaco [Royaume-Uni] ; Gabrielle Barnby [Royaume-Uni] ; Kazuhiro Kobayashi [Royaume-Uni] ; Janine Lamb [Royaume-Uni] ; Ines Sousa [Royaume-Uni] ; Nuala Sykes [Royaume-Uni] ; Edwin Cook [États-Unis] ; Stephen Guter [États-Unis] ; Bennett Leventhal [États-Unis] ; Jeff Salt [États-Unis] ; Catherine Lord [États-Unis] ; Christina Corsello [États-Unis] ; Vanessa Hus [États-Unis] ; Daniel Weeks [États-Unis] ; Fred Volkmar [États-Unis] ; Maïté Tauber [France] ; Eric Fombonne [Canada] ; Andy Shih [États-Unis] ; Kacie Meyer [États-Unis]

Source :

RBID : Hal:inserm-00937094

Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Url:
DOI: 10.1038/ng1985


Affiliations:


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Hal:inserm-00937094

Le document en format XML

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<ref type="url">http://www.goethe-university-frankfurt.de/</ref>
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<orgName>University Department of Child Psychiatry</orgName>
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<address>
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<author>
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<orgName>Department of Pharmacy and Biotechnology</orgName>
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<orgName type="acronym">UNIBO</orgName>
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<address>
<addrLine>Via Zamboni, 33 - 40126 Bologna</addrLine>
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</address>
<ref type="url">http://www.eng.unibo.it/PortaleEn/default.htm</ref>
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</affiliation>
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<author>
<name sortKey="Bacchelli, Elena" sort="Bacchelli, Elena" uniqKey="Bacchelli E" first="Elena" last="Bacchelli">Elena Bacchelli</name>
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<hal:affiliation type="laboratory" xml:id="struct-57919" status="INCOMING">
<orgName>Department of Pharmacy and Biotechnology</orgName>
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<address>
<addrLine>Via Zamboni, 33, 40126 Bologna</addrLine>
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</address>
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<orgName type="acronym">UNIBO</orgName>
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<address>
<addrLine>Via Zamboni, 33 - 40126 Bologna</addrLine>
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<ref type="url">http://www.eng.unibo.it/PortaleEn/default.htm</ref>
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<hal:affiliation type="laboratory" xml:id="struct-57919" status="INCOMING">
<orgName>Department of Pharmacy and Biotechnology</orgName>
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<address>
<addrLine>Via Zamboni, 33, 40126 Bologna</addrLine>
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</address>
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<orgName type="acronym">UNIBO</orgName>
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<address>
<addrLine>Via Zamboni, 33 - 40126 Bologna</addrLine>
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</address>
<ref type="url">http://www.eng.unibo.it/PortaleEn/default.htm</ref>
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<author>
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<hal:affiliation type="laboratory" xml:id="struct-57920" status="INCOMING">
<orgName>Medical Genetics Laboratory</orgName>
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<addrLine>Via Pietro Albertoni, 15, 40138 Bologna</addrLine>
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</address>
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<orgName>Policlinico S. Orsola-Malpighi</orgName>
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<address>
<country key="FR"></country>
</address>
</desc>
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<author>
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<hal:affiliation type="laboratory" xml:id="struct-57919" status="INCOMING">
<orgName>Department of Pharmacy and Biotechnology</orgName>
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<address>
<addrLine>Via Zamboni, 33, 40126 Bologna</addrLine>
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</address>
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<orgName>Università di Bologna [Bologna]</orgName>
<orgName type="acronym">UNIBO</orgName>
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<address>
<addrLine>Via Zamboni, 33 - 40126 Bologna</addrLine>
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</address>
<ref type="url">http://www.eng.unibo.it/PortaleEn/default.htm</ref>
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<author>
<name sortKey="Van Engeland, Herman" sort="Van Engeland, Herman" uniqKey="Van Engeland H" first="Herman" last="Van Engeland">Herman Van Engeland</name>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
<addrLine>Heidelberglaan 100, 3584 CX Utrecht</addrLine>
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</address>
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<org type="institution" xml:id="struct-309434" status="INCOMING">
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<address>
<country key="FR"></country>
</address>
</desc>
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<tutelle active="#struct-361530" type="direct">
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<orgName>Brain Center Rudolf Magnus</orgName>
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<address>
<country key="FR"></country>
</address>
</desc>
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</tutelles>
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</affiliation>
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<author>
<name sortKey="De Jonge, Maretha" sort="De Jonge, Maretha" uniqKey="De Jonge M" first="Maretha" last="De Jonge">Maretha De Jonge</name>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
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</address>
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<address>
<country key="FR"></country>
</address>
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<address>
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</address>
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<author>
<name sortKey="Kemner, Chantal" sort="Kemner, Chantal" uniqKey="Kemner C" first="Chantal" last="Kemner">Chantal Kemner</name>
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<hal:affiliation type="laboratory" xml:id="struct-112799" status="INCOMING">
<orgName>Department of Neurocognition</orgName>
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<address>
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</address>
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<orgName>Maastricht University [Maastricht]</orgName>
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<address>
<addrLine>Universiteitssingel 40;6200 MD Maastricht</addrLine>
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</address>
<ref type="url">http://www.maastrichtuniversity.nl/</ref>
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<author>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
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<address>
<country key="FR"></country>
</address>
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<orgName>Brain Center Rudolf Magnus</orgName>
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<address>
<country key="FR"></country>
</address>
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<author>
<name sortKey="Langemeijer, Marjolein" sort="Langemeijer, Marjolein" uniqKey="Langemeijer M" first="Marjolein" last="Langemeijer">Marjolein Langemeijer</name>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
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</address>
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<orgName>University Medical Center Utrecht</orgName>
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<address>
<country key="FR"></country>
</address>
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<orgName>Brain Center Rudolf Magnus</orgName>
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<address>
<country key="FR"></country>
</address>
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</hal:affiliation>
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<author>
<name sortKey="Hijmans, Channa" sort="Hijmans, Channa" uniqKey="Hijmans C" first="Channa" last="Hijmans">Channa Hijmans</name>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
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</address>
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<address>
<country key="FR"></country>
</address>
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<tutelle active="#struct-361530" type="direct">
<org type="institution" xml:id="struct-361530" status="INCOMING">
<orgName>Brain Center Rudolf Magnus</orgName>
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<address>
<country key="FR"></country>
</address>
</desc>
</org>
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</hal:affiliation>
<country>Pays-Bas</country>
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<author>
<name sortKey="Staal, Wouter" sort="Staal, Wouter" uniqKey="Staal W" first="Wouter" last="Staal">Wouter Staal</name>
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<hal:affiliation type="laboratory" xml:id="struct-128605" status="INCOMING">
<orgName>Department of Psychiatry</orgName>
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<address>
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</address>
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<address>
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</address>
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<orgName>Brain Center Rudolf Magnus</orgName>
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<address>
<country key="FR"></country>
</address>
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</hal:affiliation>
<country>Pays-Bas</country>
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<author>
<name sortKey="Baird, Gillian" sort="Baird, Gillian" uniqKey="Baird G" first="Gillian" last="Baird">Gillian Baird</name>
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<hal:affiliation type="laboratory" xml:id="struct-128882" status="INCOMING">
<orgName>Newcomen Centre</orgName>
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<address>
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</address>
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<org type="institution" xml:id="struct-154945" status="VALID">
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<address>
<addrLine>Great Maze Pond London SE1 9RT</addrLine>
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</address>
<ref type="url">http://www.guysandstthomas.nhs.uk/Home.aspx</ref>
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<country>Royaume-Uni</country>
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<author>
<name sortKey="Bolton, Patrick" sort="Bolton, Patrick" uniqKey="Bolton P" first="Patrick" last="Bolton">Patrick Bolton</name>
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<hal:affiliation type="laboratory" xml:id="struct-128884" status="INCOMING">
<orgName>Department of Child and Adolescent Psychiatry</orgName>
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<address>
<addrLine>London, SE5 8AF</addrLine>
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</address>
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<org type="institution" xml:id="struct-311910" status="INCOMING">
<orgName>Institute of psychiatry</orgName>
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<address>
<country key="FR"></country>
</address>
</desc>
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</hal:affiliation>
<country>Royaume-Uni</country>
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<author>
<name sortKey="Rutter, Michael" sort="Rutter, Michael" uniqKey="Rutter M" first="Michael" last="Rutter">Michael Rutter</name>
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<hal:affiliation type="laboratory" xml:id="struct-131765" status="INCOMING">
<orgName>MRC Social, Genetic and Developmental Psychiatry Centre</orgName>
<orgName type="acronym">SGDP</orgName>
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<address>
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</address>
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<org type="institution" xml:id="struct-356202" status="INCOMING">
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<address>
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</address>
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<address>
<addrLine>Strand Campus, London WC2R 2LS</addrLine>
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<ref type="url">http://www.kcl.ac.uk</ref>
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<country>Royaume-Uni</country>
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<author>
<name sortKey="Weisblatt, Emma" sort="Weisblatt, Emma" uniqKey="Weisblatt E" first="Emma" last="Weisblatt">Emma Weisblatt</name>
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<address>
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<orgName>University of Cambridge [UK]</orgName>
<orgName type="acronym">CAM</orgName>
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<address>
<addrLine>The Old Schools, Trinity Lane, Cambridge CB2 1TN</addrLine>
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</address>
<ref type="url">http://www.cam.ac.uk/</ref>
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<country>France</country>
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<author>
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<address>
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<name sortKey="Klauck, Sabine" sort="Klauck, Sabine" uniqKey="Klauck S" first="Sabine" last="Klauck">Sabine Klauck</name>
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<address>
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<orgName>Division of Molecular Genome Analysis</orgName>
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<address>
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<address>
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<orgName>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy</orgName>
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<address>
<addrLine>Theodor-W.-Adorno-Platz 1 , 60323 Frankfurt am Main</addrLine>
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</address>
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<address>
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<name sortKey="Feineis Matthews, Sabine" sort="Feineis Matthews, Sabine" uniqKey="Feineis Matthews S" first="Sabine" last="Feineis-Matthews">Sabine Feineis-Matthews</name>
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<address>
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<address>
<addrLine>Theodor-W.-Adorno-Platz 1 , 60323 Frankfurt am Main</addrLine>
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</address>
<ref type="url">http://www.goethe-university-frankfurt.de/</ref>
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<name sortKey="Herbrecht, Evelyn" sort="Herbrecht, Evelyn" uniqKey="Herbrecht E" first="Evelyn" last="Herbrecht">Evelyn Herbrecht</name>
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<orgName>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy</orgName>
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<address>
<addrLine>Senckenberganlage 31 - 60325 Frankfurt am Main</addrLine>
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<address>
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</address>
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<name sortKey="Schmotzer, Gabi" sort="Schmotzer, Gabi" uniqKey="Schmotzer G" first="Gabi" last="Schmötzer">Gabi Schmötzer</name>
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<hal:affiliation type="laboratory" xml:id="struct-112863" status="INCOMING">
<orgName>Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy</orgName>
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<address>
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<address>
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</address>
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<orgName>University Department of Child Psychiatry</orgName>
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<name sortKey="Papanikolaou, Katerina" sort="Papanikolaou, Katerina" uniqKey="Papanikolaou K" first="Katerina" last="Papanikolaou">Katerina Papanikolaou</name>
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<address>
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<orgName>Department of Pharmacy and Biotechnology</orgName>
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<address>
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<address>
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<address>
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</address>
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<address>
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<address>
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<address>
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<orgName>Hôpital des Enfants</orgName>
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</address>
</desc>
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</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
</affiliation>
</author>
<author>
<name sortKey="Fombonne, Eric" sort="Fombonne, Eric" uniqKey="Fombonne E" first="Eric" last="Fombonne">Eric Fombonne</name>
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<orgName>Department of Child Psychiatry</orgName>
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<addrLine>2300 rue Tupper, Montreal, H3H 1P3</addrLine>
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</address>
</desc>
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<orgName>McGill University</orgName>
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<address>
<addrLine>845, rue Sherbrooke O. Montréal (Québec) Canada H3A 0G4</addrLine>
<country key="CA"></country>
</address>
<ref type="url">http://www.mcgill.ca/</ref>
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<orgName>Montreal Children's Hospital</orgName>
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<address>
<country key="FR"></country>
</address>
</desc>
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</hal:affiliation>
<country>Canada</country>
<placeName>
<settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
<orgName type="university">Université McGill</orgName>
</affiliation>
</author>
<author>
<name sortKey="Shih, Andy" sort="Shih, Andy" uniqKey="Shih A" first="Andy" last="Shih">Andy Shih</name>
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<orgName>Scientific Affairs</orgName>
<desc>
<address>
<addrLine>2 Park Avenue, 11th Floor, New York, NY 10016</addrLine>
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</address>
</desc>
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<orgName>Autism Speaks</orgName>
<desc>
<address>
<country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>États-Unis</country>
</affiliation>
</author>
<author>
<name sortKey="Meyer, Kacie" sort="Meyer, Kacie" uniqKey="Meyer K" first="Kacie" last="Meyer">Kacie Meyer</name>
<affiliation wicri:level="1">
<hal:affiliation type="institution" xml:id="struct-183914" status="VALID">
<orgName>University of Iowa [Iowa]</orgName>
<desc>
<address>
<addrLine>Iowa City, IA 52242</addrLine>
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</address>
</desc>
</hal:affiliation>
<country>États-Unis</country>
</affiliation>
</author>
</analytic>
<idno type="DOI">10.1038/ng1985</idno>
<series>
<title level="j">Nature Genetics</title>
<idno type="ISSN">1061-4036</idno>
<imprint>
<date type="datePub">2007-03</date>
</imprint>
</series>
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<textClass></textClass>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.</div>
</front>
</TEI>
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<list>
<country>
<li>Allemagne</li>
<li>Canada</li>
<li>France</li>
<li>Grèce</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region>
<li>Illinois</li>
<li>Iowa</li>
<li>Missouri (État)</li>
<li>Ontario</li>
<li>Pennsylvanie</li>
<li>Québec</li>
</region>
<settlement>
<li>Chicago</li>
<li>Iowa City</li>
<li>Montréal</li>
<li>Pittsburgh</li>
<li>Saint-Louis (Missouri)</li>
<li>Toronto</li>
</settlement>
<orgName>
<li>Université McGill</li>
<li>Université Washington de Saint-Louis</li>
<li>Université de Pittsburgh</li>
<li>Université de Toronto</li>
<li>Université de l'Illinois à Chicago</li>
<li>Université de l'Iowa</li>
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<name sortKey="Pickles, Andrew" sort="Pickles, Andrew" uniqKey="Pickles A" first="Andrew" last="Pickles">Andrew Pickles</name>
<name sortKey="Rutter, Michael" sort="Rutter, Michael" uniqKey="Rutter M" first="Michael" last="Rutter">Michael Rutter</name>
<name sortKey="Sousa, Ines" sort="Sousa, Ines" uniqKey="Sousa I" first="Ines" last="Sousa">Ines Sousa</name>
<name sortKey="Sykes, Nuala" sort="Sykes, Nuala" uniqKey="Sykes N" first="Nuala" last="Sykes">Nuala Sykes</name>
<name sortKey="Wallace, Simon" sort="Wallace, Simon" uniqKey="Wallace S" first="Simon" last="Wallace">Simon Wallace</name>
<name sortKey="Wilkinson, Julie Anne" sort="Wilkinson, Julie Anne" uniqKey="Wilkinson J" first="Julie-Anne" last="Wilkinson">Julie-Anne Wilkinson</name>
</country>
<country name="Grèce">
<noRegion>
<name sortKey="Tsiantis, John" sort="Tsiantis, John" uniqKey="Tsiantis J" first="John" last="Tsiantis">John Tsiantis</name>
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<name sortKey="Papanikolaou, Katerina" sort="Papanikolaou, Katerina" uniqKey="Papanikolaou K" first="Katerina" last="Papanikolaou">Katerina Papanikolaou</name>
</country>
<country name="Pays-Bas">
<noRegion>
<name sortKey="Van Engeland, Herman" sort="Van Engeland, Herman" uniqKey="Van Engeland H" first="Herman" last="Van Engeland">Herman Van Engeland</name>
</noRegion>
<name sortKey="De Jonge, Maretha" sort="De Jonge, Maretha" uniqKey="De Jonge M" first="Maretha" last="De Jonge">Maretha De Jonge</name>
<name sortKey="Hijmans, Channa" sort="Hijmans, Channa" uniqKey="Hijmans C" first="Channa" last="Hijmans">Channa Hijmans</name>
<name sortKey="Kemner, Chantal" sort="Kemner, Chantal" uniqKey="Kemner C" first="Chantal" last="Kemner">Chantal Kemner</name>
<name sortKey="Koop, Frederieke" sort="Koop, Frederieke" uniqKey="Koop F" first="Frederieke" last="Koop">Frederieke Koop</name>
<name sortKey="Langemeijer, Marjolein" sort="Langemeijer, Marjolein" uniqKey="Langemeijer M" first="Marjolein" last="Langemeijer">Marjolein Langemeijer</name>
<name sortKey="Staal, Wouter" sort="Staal, Wouter" uniqKey="Staal W" first="Wouter" last="Staal">Wouter Staal</name>
</country>
</tree>
</affiliations>
</record>

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