article Open AccessTop 1% cited
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
The American Journal of Human Genetics · 2014 · Vol. 94(5) · pp. 677–694
Dalila Pinto✉(Icahn School of Medicine at Mount Sinai)Elsa Delaby(Centre National de la Recherche Scientifique)Daniele Merico(Hospital for Sick Children)Mafalda Barbosa(Icahn School of Medicine at Mount Sinai)Alison Merikangas(Trinity College Dublin)Lambertus Klei(University of Pittsburgh)Bhooma Thiruvahindrapuram(Hospital for Sick Children)Xiao Xu(Child Health and Development Institute)Robert Ziman(Hospital for Sick Children)Zhuozhi Wang(Hospital for Sick Children)Jacob Vorstman(University Medical Center Utrecht)Ann Thompson(McMaster University)Regina Regan(University College Dublin)Marion Pilorge(Sorbonne Université)Giovanna Pellecchia(Hospital for Sick Children)Alistair T. Pagnamenta(Centre for Human Genetics)Bárbara Oliveira(University of Lisbon)Christian R. Marshall(University of Toronto)Tiago R. Magalhães(National Children’s Research Centre)Jennifer K. Lowe(University of California, Los Angeles)Jennifer Howe(Hospital for Sick Children)Anthony J. Griswold(Dr. John T. Macdonald Foundation)John R. Gilbert(Dr. John T. Macdonald Foundation)Eftichia Duketis(Goethe University Frankfurt)Beth A. Dombroski(University of Pennsylvania)Maretha Jonge(University Medical Center Utrecht)Michael L. Cuccaro(University of Miami)Emily L. Crawford(Center for Human Genetics)Catarina Correia(National Institute of Health Dr. Ricardo Jorge)Judith Conroy(University College Dublin)Inês C. Conceição(National Institute of Health Dr. Ricardo Jorge)Andreas G. Chiocchetti(Goethe University Frankfurt)Jillian P. Casey(National Children’s Research Centre)Guiqing Cai(Icahn School of Medicine at Mount Sinai)Christelle Cabrol(Centre de Gestion Scientifique)Nadia Bolshakova(Trinity College Dublin)Elena Bacchelli(University of Bologna)Richard Anney(Trinity College Dublin)Steven Gallinger(Mount Sinai Hospital)Michelle Cotterchio(Cancer Care Ontario)Graham Casey(University of Southern California)Lonnie Zwaigenbaum(University of Alberta)Kerstin Wittemeyer(University of Birmingham)Kirsty Wing(University of Oxford)Simon Wallace(University of Oxford)Hermán van Engeland(University Medical Center Utrecht)Ana Tryfon(Icahn School of Medicine at Mount Sinai)Susanne Thomson(Vanderbilt University)Latha Soorya(Icahn School of Medicine at Mount Sinai)Bernadette Rogé(Unité de Recherche Interdisplinaire Octogone)Wendy Roberts(Hospital for Sick Children)Fritz Poustka(Goethe University Frankfurt)Susana Mouga(University of Coimbra)Nancy J. Minshew(University of Pittsburgh)L. Alison McInnes(Icahn School of Medicine at Mount Sinai)Susan G. McGrew(Vanderbilt University)Catherine Lord(Cornell University)Marion Leboyer(Université Paris-Est Créteil)Ann S. Couteur(Newcastle University)Alexander Kolevzon(Icahn School of Medicine at Mount Sinai)Patricia González(Costa Rican Department of Social Security)Suma Jacob(University of Minnesota)Richard Holt(University of Oxford)Stephen J. Guter(University of Illinois Chicago)Jonathan Green(University of Manchester)Andrew Green(Our Lady's Hospital)Christopher Gillberg(University of Gothenburg)Bridget A. Fernandez(Memorial University of Newfoundland)Frederico Duque(University of Coimbra)Richard Delorme(Gènes, synapses et cognition)Géraldine Dawson(Duke University)Pauline Chaste(Fondation FondaMental)Cátia Café(Hospitais da Universidade de Coimbra)S. Brennan(Trinity College Dublin)Thomas Bourgeron(Centre National de la Recherche Scientifique)Patrick Bolton(NIHR Maudsley Biomedical Research Centre)Sven Bölte(Goethe University Frankfurt)Raphael Bernier(University of Washington)Gillian Baird(Kings Health Partners)Anthony Bailey(Warneford Hospital)Evdokia Anagnostou(Holland Bloorview Kids Rehabilitation Hospital)Joana Almeida(Hospitais da Universidade de Coimbra)Ellen M. Wijsman(University of Washington Medical Center)Veronica J. Vieland(Nationwide Children's Hospital)Astrid M. Vicente(National Institute of Health Dr. Ricardo Jorge)Gerard D. Schellenberg(University of Pennsylvania)Margaret A. Pericak‐Vance(Dr. John T. Macdonald Foundation)Andrew D. Paterson(Hospital for Sick Children)Jeremy Parr(Newcastle University)Guiomar Oliveira(Hospitais da Universidade de Coimbra)John I. Nürnberger(Indiana University – Purdue University Indianapolis)Anthony P. Monaco(University of Oxford)Elena Maestrini(University of Bologna)Sabine M. Klauck(Heidelberg University)Håkon Håkonarson(Children's Hospital of Philadelphia)Jonathan L. Haines(Center for Human Genetics)Daniel H. Geschwind(Center for Autism and Related Disorders)Christine M. Freitag(Goethe University Frankfurt)Susan E. Folstein(University of Miami)Sean Ennis(Our Lady's Hospital)Hilary Coon(University of Utah)Agatino Battaglia(Fondazione Stella Maris)Péter Szatmári(McMaster University)James S. Sutcliffe(Center for Human Genetics)Joachim Hallmayer(Stanford University)Michael Gill(Trinity College Dublin)Edwin H. Cook(University of Illinois Chicago)Joseph D. Buxbaum(Child Health and Development Institute)Bernie Devlin(University of Pittsburgh)Louise Gallagher(Trinity College Dublin)Catalina Betancur(Centre de Gestion Scientifique)Stephen W. Scherer(Hospital for Sick Children)
Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersCopy-number variationGeneticsAutismGeneBiologyIntellectual disabilitySingle-nucleotide polymorphismAutism spectrum disorderLoss functionPhenotype
MeSH terms
ChildChild Development Disorders, PervasiveFemaleMultigene FamilyHumansMalePedigreeSequence DeletionGene Regulatory NetworksMetabolic Networks and PathwaysDNA Copy Number Variations
Citations
1,019
FWCI
80.97
field-weighted impact
References
66
Percentile
100%
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Citations per year
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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
Molecular Psychiatry · 2011 · 871 citations
Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics · 2008 · 1,832 citations
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
The American Journal of Human Genetics · 2008 · 1,043 citations
Characterising and Predicting Haploinsufficiency in the Human Genome
PLoS Genetics · 2010 · 684 citations
A genome-wide scan for common alleles affecting risk for autism
Human Molecular Genetics · 2010 · 587 citations
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