Genetic contributions to autism spectrum disorder

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

The adult outcome of children referred for autism: typology and prediction from childhood

(2020) Andrew Pickles et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Autism spectrum disorder

(2020) Catherine Lord et al.   Nature Reviews Disease Primers

Refining attention-deficit/hyperactivity disorder and autism spectrum disorder genetic loci by integrating summary data from genome-wide association, gene expression and DNA methylation studies

(2020) Anke R. Hammerschlag et al.   BIOLOGICAL PSYCHIATRY

Prenatal Origins of ASD: The When, What, and How of ASD Development

(2020) Eric Courchesne et al.   TRENDS IN NEUROSCIENCES

Etiology of Autism Spectrum Disorders and Autistic Traits Over Time

(2020) Mark J. Taylor et al.   JAMA Psychiatry

Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder

(2020) Michele Filosi et al.   Translational Psychiatry

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders

(2020) Veronica B. Searles Quick et al.   NEUROPSYCHOPHARMACOLOGY

Elevated rates of autism, other neurodevelopmental and psychiatric diagnoses, and autistic traits in transgender and gender-diverse individuals

(2020) Varun Warrier et al.   Nature Communications

Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder

(2020) Afsheen Yousaf et al.   Translational Psychiatry

Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism

(2020) Nana Matoba et al.   Translational Psychiatry

Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism

(2020) Gokul Ramaswami et al.   Nature Communications

From Basic Science to Clinical Application of Polygenic Risk Scores

(2020) Naomi R. Wray et al.   JAMA Psychiatry

Do natural experiments have an important future in the study of mental disorders?

(2019) Anita Thapar et al.   PSYCHOLOGICAL MEDICINE

Using Openly Accessible Resources to Strengthen Causal Inference in Epigenetic Epidemiology of Neurodevelopment and Mental Health

(2019) Esther Walton et al.   Genes

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

(2019) David M. Howard et al.   NATURE NEUROSCIENCE

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Recurrence Risk of Autism in Siblings and Cousins: A Multi-National, Population-Based Study

(2019) Stefan N. Hansen et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue

(2019) Chloe C Y Wong et al.   HUMAN MOLECULAR GENETICS

Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk

(2019) A. C. Palk et al.   Philosophy Ethics and Humanities in Medicine

Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk

(2019) Jian Zhou et al.   NATURE GENETICS

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

Association of Maternal Neurodevelopmental Risk Alleles With Early-Life Exposures

(2019) Beate Leppert et al.   JAMA Psychiatry

Investigational Drugs in Early Stage Clinical Trials for Autism Spectrum Disorder

(2019) Michael P. Hong et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Recessive gene disruptions in autism spectrum disorder

(2019) Ryan N. Doan et al.   NATURE GENETICS

Copy number variants in autism spectrum disorders

(2019) Stefano Vicari et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Paternal-age-related de novo mutations and risk for five disorders

(2019) Jacob L. Taylor et al.   Nature Communications

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

(2019) M. T. Siu et al.   Clinical Epigenetics

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

(2019) Dan Bai et al.   JAMA Psychiatry

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

(2019) Elizabeth K. Ruzzo et al.   CELL

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage

(2019) Changhoon Lee et al.   NATURE NEUROSCIENCE

Epigenetic Delay in the Neurodevelopmental Trajectory of DNA Methylation States in Autism Spectrum Disorders

(2019) Michael J. Corley et al.   Frontiers in Genetics

Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

(2019) Rebecca L. Walker et al.   CELL

Within family Mendelian randomization studies

(2019) Neil M Davies et al.   HUMAN MOLECULAR GENETICS

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

(2019) F. Kyle Satterstrom et al.   NATURE NEUROSCIENCE

Strengthening Causal Inference for Complex Disease Using Molecular Quantitative Trait Loci

(2019) Sonja Neumeyer et al.   TRENDS IN MOLECULAR MEDICINE

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

(2019) Olafur O. Gudmundsson et al.   Translational Psychiatry

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

(2019) Phil H. Lee et al.   CELL

Environmental Influences on the Epigenome: Exposure- Associated DNA Methylation in Human Populations

(2018) Elizabeth M. Martin et al.   Annual Review of Public Health

Effects of Maternal Vitamin D Supplementation on the Maternal and Infant Epigenome

(2018) Cindy M. Anderson et al.   Breastfeeding Medicine

Placental DNA Methylation Adaptation to Maternal Glycemic Response in Pregnancy

(2018) Andres Cardenas et al.   DIABETES

Editorial: The rising prevalence of autism

(2018) Eric Fombonne   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Using genetic data to strengthen causal inference in observational research

(2018) Jean-Baptiste Pingault et al.   NATURE REVIEWS GENETICS

Psychiatric and Medical Conditions in Transition-Aged Individuals With ASD

(2018) Meghan N. Davignon et al.   PEDIATRICS

Sex Differences in Autism Spectrum Disorder: a Review

(2018) Sarah L. Ferri et al.   Current Psychiatry Reports

Elevated polygenic burden for autism is associated with differential DNA methylation at birth

(2018) Eilis Hannon et al.   Genome Medicine

Autism spectrum disorder: prospects for treatment using gene therapy

(2018) Matthew Benger et al.   Molecular Autism

Case-control meta-analysis of blood DNA methylation and autism spectrum disorder

(2018) Shan V. Andrews et al.   Molecular Autism

Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa

(2018) Varun Warrier et al.   Translational Psychiatry

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Aberrant Expression of Long Non-coding RNAs in Peripheral Blood of Autistic Patients

(2018) Arezou Sayad et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes

(2018) Michael V. Lombardo et al.   NATURE NEUROSCIENCE

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

(2018) Joon-Yong An et al.   SCIENCE

Association of Genetic Risk Factors for Psychiatric Disorders and Traits of These Disorders in a Swedish Population Twin Sample

(2018) Mark J. Taylor et al.   JAMA Psychiatry

Regulatory genes and pathways disrupted in autism spectrum disorders

(2018) Fatma Ayhan et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Pathways from autism spectrum disorder diagnosis to genetic testing

(2017) Krysta S Barton et al.   GENETICS IN MEDICINE

What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis

(2017) Rachel Loomes et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties

(2017) B St Pourcain et al.   MOLECULAR PSYCHIATRY

Autism spectrum disorders and autistic traits share genetics and biology

(2017) J Bralten et al.   MOLECULAR PSYCHIATRY

ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains

(2017) R M Cantor et al.   MOLECULAR PSYCHIATRY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth

(2017) Ge Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings

(2017) Nathan Palmer et al.   JAMA Pediatrics

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

(2017)   Molecular Autism

Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

(2017) Amirhossein Modabbernia et al.   Molecular Autism

Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis

(2016) Daniel S. Tylee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders

(2016) Yu Tao et al.   BMC GENOMICS

Premature mortality in autism spectrum disorder

(2016) Tatja Hirvikoski et al.   BRITISH JOURNAL OF PSYCHIATRY

Current knowledge on the genetics of autism and propositions for future research

(2016) Thomas Bourgeron   COMPTES RENDUS BIOLOGIES

Principles Governing DNA Methylation during Neuronal Lineage and Subtype Specification

(2016) Ali Sharma et al.   JOURNAL OF NEUROSCIENCE

Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research

(2016) Karoline Alexandra Havdahl et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations

(2016) Jacob Gratten et al.   NATURE GENETICS

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

(2016) Elise B Robinson et al.   NATURE GENETICS

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Lessons learned from studying syndromic autism spectrum disorders

(2016) Yehezkel Sztainberg et al.   NATURE NEUROSCIENCE

Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns

(2016) Bonnie R. Joubert et al.   Nature Communications

Social Responsiveness, an Autism Endophenotype: Genomewide Significant Linkage to Two Regions on Chromosome 8

(2015) Jennifer K. Lowe et al.   AMERICAN JOURNAL OF PSYCHIATRY

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

(2015) Pauline Chaste et al.   BIOLOGICAL PSYCHIATRY

Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders

(2015) Young Shin Kim et al.   BIOLOGICAL PSYCHIATRY

Delivery and Specificity of CRISPR/Cas9 Genome Editing Technologies for Human Gene Therapy

(2015) Jennifer L. Gori et al.   HUMAN GENE THERAPY

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Heritability of autism spectrum disorders: a meta-analysis of twin studies

(2015) Beata Tick et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

(2015) T-K Clarke et al.   MOLECULAR PSYCHIATRY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

Coexpression networks identify brain region–specific enhancer RNAs in the human brain

(2015) Pu Yao et al.   NATURE NEUROSCIENCE

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

The transcriptional landscape of age in human peripheral blood

(2015) Marjolein J. Peters et al.   Nature Communications

A comprehensive meta-analysis of common genetic variants in autism spectrum conditions

(2015) Varun Warrier et al.   Molecular Autism

Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins

(2015) Donna M Werling et al.   Molecular Autism

Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

(2015) Alycia K Halladay et al.   Molecular Autism

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder

(2015) Y Wang et al.   Translational Psychiatry

Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions

(2014) Neil Risch et al.   AMERICAN JOURNAL OF PSYCHIATRY

Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type

(2014) Alicia K Smith et al.   BMC GENOMICS

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

(2014) Beate St Pourcain et al.   Molecular Autism

DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways

(2014) S Nardone et al.   Translational Psychiatry

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

Common DNA methylation alterations in multiple brain regions in autism

(2013) C Ladd-Acosta et al.   MOLECULAR PSYCHIATRY

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

Molecular logic of neocortical projection neuron specification, development and diversity

(2013) Luciano Custo Greig et al.   NATURE REVIEWS NEUROSCIENCE

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrence of Autism Spectrum Disorders in Full- and Half-Siblings and Trends Over Time

(2013) Therese K. Grønborg et al.   JAMA Pediatrics

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

(2012) Rui Luo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aberrant Expression of Long Noncoding RNAs in Autistic Brain

(2012) Mark N. Ziats et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD

(2012) J N Constantino et al.   MOLECULAR PSYCHIATRY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system

(2012) Susan M. Sunkin et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide DNA Methylation and Gene Expression Analyses of Monozygotic Twins Discordant for Intelligence Levels

(2012) Chih-Chieh Yu et al.   PLoS One

A Prospective Study of Autistic-Like Traits in Unaffected Siblings of Probands With Autism Spectrum Disorder

(2012) Stelios Georgiades et al.   JAMA Psychiatry

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

Autism spectrum disorders and autistic traits: A decade of new twin studies

(2011) Angelica Ronald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Autistic-like traits and their association with mental health problems in two nationwide twin cohorts of children and adults

(2011) S. Lundström et al.   PSYCHOLOGICAL MEDICINE

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders

(2010) Dale S Cannon et al.   Molecular Autism

Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs)

(2009) Takeshi Nishiyama et al.   JOURNAL OF HUMAN GENETICS

Psychiatric Disorders in Children With Autism Spectrum Disorders: Prevalence, Comorbidity, and Associated Factors in a Population-Derived Sample

(2009) Emily Simonoff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE