ArticleNature genetics2007
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Erratum issuedAbstract readComparative Study
In one paragraph
Article in Nature genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 669 papers, 5 of them syntheses that pooled it.
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0cells of the map it votes in
669citing papers in PubMed, 5 pooled it
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
669 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Pooled it
- Early environmental risk factors for neurodevelopmental disorders - a systematic review of twin and sibling studies.Development and psychopathology · 2021Pooled it
- Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autism · 2017Pooled it
- Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders.Translational psychiatry · 2017Trial
- The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential.Zoological research · 2026Review
- Elevated brain glutamine levels in adults with autism spectrum disorder: A 7T MRS study.Molecular psychiatry · 2026Article
- Plasma EAAT2 and GABA as candidate biomarkers in males with autism spectrum disorder: an exploratory case-control study with ROC analysis.Scientific reports · 2026Article
- Postnatal reduction of eIF4E overexpression in D1-SPNs ameliorates KCNQ channel dysfunction, hyperexcitability and ASD-like behaviours.Cellular and molecular life sciences : CMLS · 2026Article
- Neurexin regulates mechanical nociceptive sensitization by central inhibition inScience advances · 2025Article
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.Scientific reports · 2025Article
- Autoantibodies and Inflammation in Schizophrenia.Psychiatry and clinical neurosciences · 2025Review
- Advancing precision diagnosis in autism: Insights from large-scale genomic studies.Molecules and cells · 2025Review
- Mutation of the histone demethylase Gasc1 causes ASD-like symptoms in mice.Inflammation and regeneration · 2025Article
- Contribution of neuroligin and neurexin alternative splicing to the establishment of enteric neuronal synaptic specificity.American journal of physiology. Gastrointestinal and liver physiology · 2025Article
- Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism.Molecular brain · 2025Article
- Dysregulated acetylcholine-mediated dopamine neurotransmission in the eIF4E Tg mouse model of autism spectrum disorders.Cell reports · 2024Article
- KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies.American journal of human genetics · 2024Article
609 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedMeyer, Kacie J [added]; Koop, Frederike [corrected to Koop, Frederieke]; Langemeijer, Marjolijn [corrected to Langemeijer, Marjolein]; Hijimans, Channa [corrected to Hijmans, Channa]
Authors and funding
142 authors.
Autism Genome Project ConsortiumDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Peter Szatmari
Andrew D Paterson
Lonnie Zwaigenbaum
Wendy Roberts
Jessica Brian
Xiao-Qing Liu
John B Vincent
Jennifer L Skaug
Ann P Thompson
Lili Senman
Lars Feuk
Cheng Qian
Susan E Bryson
Marshall B Jones
Christian R Marshall
Stephen W Scherer
Veronica J Vieland
Christopher Bartlett
La Vonne Mangin
Rhinda Goedken
Alberto Segre
Margaret A Pericak-Vance
Michael L Cuccaro
John R Gilbert
Harry H Wright
Ruth K Abramson
Catalina Betancur
Thomas Bourgeron
Christopher Gillberg
Marion Leboyer
Joseph D Buxbaum
Kenneth L Davis
Eric Hollander
Jeremy M Silverman
Joachim Hallmayer
Linda Lotspeich
James S Sutcliffe
Jonathan L Haines
Susan E Folstein
Joseph Piven
Thomas H Wassink
Val Sheffield
Daniel H Geschwind
Maja Bucan
W Ted Brown
Rita M Cantor
John N Constantino
T Conrad Gilliam
Martha Herbert
Clara Lajonchere
David H Ledbetter
Christa Lese-Martin
Janet Miller
Stan Nelson
Carol A Samango-Sprouse
Sarah Spence
Matthew State
Rudolph E Tanzi
Hilary Coon
Geraldine Dawson
Bernie Devlin
Annette Estes
Pamela Flodman
Lambertus Klei
William M McMahon
Nancy Minshew
Jeff Munson
Elena Korvatska
Patricia M Rodier
Gerard D Schellenberg
Moyra Smith
M Anne Spence
Chris Stodgell
Ping Guo Tepper
Ellen M Wijsman
Chang-En Yu
Bernadette Rogé
Carine Mantoulan
Kerstin Wittemeyer
Annemarie Poustka
Bärbel Felder
Sabine M Klauck
Claudia Schuster
Fritz Poustka
Sven Bölte
Sabine Feineis-Matthews
Evelyn Herbrecht
Gabi Schmötzer
John Tsiantis
Katerina Papanikolaou
Elena Maestrini
Elena Bacchelli
Francesca Blasi
Simona Carone
Claudio Toma
Herman Van Engeland
Maretha de Jonge
Chantal Kemner
Frederieke Koop
Frederike Koop
Marjolein Langemeijer
Marjolijn Langemeijer
Channa Hijmans
Channa Hijimans
Wouter G Staal
Gillian Baird
Patrick F Bolton
Michael L Rutter
Emma Weisblatt
Jonathan Green
Catherine Aldred
Julie-Anne Wilkinson
Andrew Pickles
Ann Le Couteur
Tom Berney
Helen McConachie
Anthony J Bailey
Kostas Francis
Gemma Honeyman
Aislinn Hutchinson
Jeremy R Parr
Simon Wallace
Anthony P Monaco
Gabrielle Barnby
Kazuhiro Kobayashi
Janine A Lamb
Ines Sousa
Nuala Sykes
Edwin H Cook
Stephen J Guter
Bennett L Leventhal
Jeff Salt
Catherine Lord
Christina Corsello
Vanessa Hus
Daniel E Weeks
Fred Volkmar
Maïté Tauber
Eric Fombonne
Andy Shih
Kacie J Meyer
Funding
Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0MVIRAL DAMAGE TO BRAIN AND NEUROMUSCULAR SYSTEMM01RR000064 · NCRR · UNIVERSITY OF UTAH · PI SWOBODA, KATHRYN J. · 1985 to 2008
$21.7MA Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6MUSE OF DNA PROBE FOR CHOLINERGIC AND NON-CHOLINERGIC MG ANTIGENP01NS026630 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 1989 to 2009
$12.6MGenomewide Search--Autism Susceptibility Loci-supplementR01MH064547 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2002 to 2006
$9.6MMANAGEMENT/STATISTICS COREU54MH066673 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI BUXBAUM, JOSEPH D. · 2003 to 2007
$7.7MZIPRASIDONE TREATMENT OF TOURETTE'S SYNDROME IN CHILDRENM01RR006022 · NCRR · YALE UNIVERSITY · PI KESSLER, DAVID A · 1990 to 2003
$6.7MNEUROIMAGING STUDIES OF AUTISM SPECTRUM CONDITIONSU19HD035482 · NICHD · YALE UNIVERSITY · PI VOLKMAR, FRED ROBERT · 2002 to 2006
$6.7MGenetics Association in Schizophrenia and Other DisordersR37MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 2013 to 2022
$5.4MUtah Autism ProgramU19HD035476 · NICHD · UNIVERSITY OF UTAH · PI MCMAHON, WILLIAM M · 2002 to 2006
$5.4MGENETIC ASSOCIATION IN SCHIZOPHRENIA AND OTHER DISORDERSR01MH057881 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 1998 to 2012
$4.8MINFRASTRUCTURE TO FACILITATE DISCOVERY OF AUTISM GENESR01NS042165 · NINDS · TUFTS MEDICAL CENTER · PI HALLMAYER, JOACHIM F · 2002 to 2006
$4.2MAutism Speaks AS1489Medical Research Council G0601030NCRR NIH HHS M01 RR000064NCRR NIH HHS M01-RR00064NCRR NIH HHS M01 RR006022NCRR NIH HHS M01 RR06022NICHD NIH HHS 5 U19 HD035476NICHD NIH HHS P50 HD055784NICHD NIH HHS U19 HD035476NICHD NIH HHS U19 HD035482NICHD NIH HHS U19HD34565NICHD NIH HHS U19 HD35482NIMH NIH HHS K02 MH01389NIMH NIH HHS K05 MH01196NIMH NIH HHS MH057881NIMH NIH HHS MH061009NIMH NIH HHS MH066673NIMH NIH HHS MH52708NIMH NIH HHS MH55135NIMH NIH HHS MH64547NIMH NIH HHS R01 MH057881NIMH NIH HHS R01 MH061009NIMH NIH HHS R01 MH064547NIMH NIH HHS R01 MH081754NIMH NIH HHS R01 MH093725NIMH NIH HHS R37 MH057881NIMH NIH HHS U54 MH066673NINDS NIH HHS NS026630NINDS NIH HHS NS036738NINDS NIH HHS NS042165NINDS NIH HHS NS043550NINDS NIH HHS NS049261NINDS NIH HHS P01 NS026630NINDS NIH HHS R01 NS042165NINDS NIH HHS R01 NS043550NINDS NIH HHS R01 NS049261Telethon GGP030227Wellcome Trust
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.
Indexed as
Chromosome AberrationsChromosome MappingGenetic LinkageGenetic Predisposition to DiseaseAutistic DisorderFamilyFemaleGenetic TestingGenetic VariationHumansLod ScoreMaleRisk Factors
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