相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Anne-Laure Mosca-Boidron et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
Jinchen Li et al.
MOLECULAR PSYCHIATRY (2016)
Analysis of CHRNA7 Rare Variants in Autism Spectrum Disorder Susceptibility
Elena Bacchelli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
Barbara Torrico et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Excess of rare, inherited truncating mutations in autism
Niklas Krumm et al.
NATURE GENETICS (2015)
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Thomas Bourgeron
NATURE REVIEWS NEUROSCIENCE (2015)
Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
Emma Colvert et al.
JAMA PSYCHIATRY (2015)
minimac2: faster genotype imputation
Christian Fuchsberger et al.
BIOINFORMATICS (2015)
Case-Control Genome-Wide Association Study of Persistent Attention-Deficit Hyperactivity Disorder Identifies FBXO33 as a Novel Susceptibility Gene for the Disorder
Cristina Sanchez-Mora et al.
NEUROPSYCHOPHARMACOLOGY (2015)
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders
Regina Waltes et al.
HUMAN GENETICS (2014)
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
C. Toma et al.
MOLECULAR PSYCHIATRY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
Biological insights from 108 schizophrenia-associated genetic loci
Stephan Ripke et al.
NATURE (2014)
Most genetic risk for autism resides with common variation
Trent Gaugler et al.
NATURE GENETICS (2014)
A genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations
Tong Xie et al.
NEUROBIOLOGY OF AGING (2014)
MACROD2 gene associated with autistic-like traits in a general population sample
Rachel M. Jones et al.
PSYCHIATRIC GENETICS (2014)
Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10
Lina Jonsson et al.
MOLECULAR AUTISM (2014)
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk
Ye Cheng et al.
HUMAN MOLECULAR GENETICS (2013)
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
Anna Koettgen et al.
NATURE GENETICS (2013)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
S. Hong Lee et al.
NATURE GENETICS (2013)
Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC
Claudio Toma et al.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY (2013)
Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans
Gueluem Kosova et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Mayada Elsabbagh et al.
AUTISM RESEARCH (2012)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
Evaluating the Evidence for Transmission Distortion in Human Pedigrees
Wynn K. Meyer et al.
GENETICS (2012)
The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD
Daphne J. van Steijn et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
DISEASE MECHANISMS Genetic architectures of psychiatric disorders: the emerging picture and its implications
Patrick F. Sullivan et al.
NATURE REVIEWS GENETICS (2012)
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie et al.
PLOS ONE (2012)
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families
Paola Prandini et al.
PSYCHIATRIC GENETICS (2012)
A Noncoding RNA Antisense to Moesin at 5p14.1 in Autism
Tara Kerin et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Common genetic variants, acting additively, are a major source of risk for autism
Lambertus Klei et al.
MOLECULAR AUTISM (2012)
No Association Between a Common Single Nucleotide Polymorphism, rs4141463, in the MACROD2 Gene and Autism Spectrum Disorder
Sarah Curran et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
Two-marker association tests yield new disease associations for coronary artery disease and hypertension
Thomas P. Slavin et al.
HUMAN GENETICS (2011)
Genome-wide association study identifies five new schizophrenia loci
Stephan Ripke et al.
NATURE GENETICS (2011)
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Anath C. Lionel et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
John P. Hussman et al.
MOLECULAR AUTISM (2011)
Association Between a High-Risk Autism Locus on 5p14 and Social Communication Spectrum Phenotypes in the General Population
Beate St. Pourcain et al.
AMERICAN JOURNAL OF PSYCHIATRY (2010)
Variants in Several Genomic Regions Associated with Asperger Disorder
D. Salyakina et al.
AUTISM RESEARCH (2010)
A genome-wide scan for common alleles affecting risk for autism
Richard Anney et al.
HUMAN MOLECULAR GENETICS (2010)
Hotspots of Large Rare Deletions in the Human Genome
W. Edward C. Bradley et al.
PLOS ONE (2010)
Genetics in psychiatry: common variant association studies
Joseph D. Buxbaum et al.
MOLECULAR AUTISM (2010)
A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Deqiong Ma et al.
ANNALS OF HUMAN GENETICS (2009)
Common body mass index-associated variants confer risk of extreme obesity
Chris Cotsapas et al.
HUMAN MOLECULAR GENETICS (2009)
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss et al.
NATURE (2009)
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Kai Wang et al.
NATURE (2009)
Epidemiology of Pervasive Developmental Disorders
Eric Fombonne
PEDIATRIC RESEARCH (2009)
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
Bin Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
Bryan N. Howie et al.
PLOS GENETICS (2009)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The genetics of autistic disorders and its clinical relevance: a review of the literature
C. M. Freitag
MOLECULAR PSYCHIATRY (2007)
Constitutional downregulation of SEMA5A expression in autism
M. Melin et al.
NEUROPSYCHOBIOLOGY (2006)
Pervasive developmental disorders in preschool children: Confirmation of high prevalence
S Chakrabarti et al.
AMERICAN JOURNAL OF PSYCHIATRY (2005)
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
S Purcell et al.
BIOINFORMATICS (2003)
The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism
C Lord et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2000)