Genetic correlates of phenotypic heterogeneity in autism

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

(2022) Danny Antaki et al.   NATURE GENETICS

Patterns of de novo tandem repeat mutations and their role in autism

(2021) Ileena Mitra et al.   NATURE

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

(2021) Konrad J. Karczewski et al.   NATURE

Genetic contributions to autism spectrum disorder

(2021) A. Havdahl et al.   PSYCHOLOGICAL MEDICINE

Evaluating the latent structure of the non-social domain of autism in autistic adults

(2021) Rachel Grove et al.   Molecular Autism

Genetic analyses identify widespread sex-differential participation bias

(2021) Nicola Pirastu et al.   NATURE GENETICS

Evaluation of polygenic prediction methodology within a reference-standardized framework

(2021) Oliver Pain et al.   PLoS Genetics

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

(2020) F. Kyle Satterstrom et al.   CELL

Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research

(2020) Francesca Happé et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Autism spectrum disorder

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

Insufficient Evidence for “Autism-Specific” Genes

(2020) Scott M. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2020) Brett Trost et al.   NATURE

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

Extracting Latent Subdimensions of Social Communication: A Cross-measure Factor Analysis

(2020) Shuting Zheng et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Overlooked roles of DNA damage and maternal age in generating human germline mutations

(2019) Ziyue Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polygenic prediction via Bayesian regression and continuous shrinkage priors

(2019) Tian Ge et al.   Nature Communications

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

(2019) Anja Thormann et al.   Nature Communications

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE 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

Sex and gender impacts on the behavioural presentation and recognition of autism

(2019) Meng-Chuan Lai et al.   CURRENT OPINION IN PSYCHIATRY

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

(2018) Pamela Feliciano et al.   NEURON

Damaging de novo mutations diminish motor skills in children on the autism spectrum

(2018) Andreas Buja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

(2018) Ditte Demontis et al.   NATURE GENETICS

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

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   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

The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation

(2017) Tony Charman et al.   Molecular Autism

Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease

(2016) Wouter J. Peyrot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Subdimensions of social-communication impairment in autism spectrum disorder

(2016) Somer L. Bishop et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

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

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

(2016) Yuta Katayama et al.   NATURE

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

(2016) Elise B Robinson et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

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

Sex/Gender Differences and Autism: Setting the Scene for Future Research

(2015) Meng-Chuan Lai et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT 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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) Stephan J. Sanders et al.   NEURON

lavaan: AnRPackage for Structural Equation Modeling

(2015) Yves Rosseel   Journal of Statistical Software

cocor: A Comprehensive Solution for the Statistical Comparison of Correlations

(2015) Birk Diedenhofen et al.   PLoS One

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How interview questions are placed in time influences caregiver description of social communication symptoms on the ADI-R

(2014) Rebecca M. Jones et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Measuring missing heritability: Inferring the contribution of common variants

(2014) David Golan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder

(2014) Thomas J. Hoffmann et al.   JAMA Psychiatry

Sex differences in autism spectrum disorders

(2013) Donna M. Werling et al.   CURRENT OPINION IN NEUROLOGY

Autism

(2013) Meng-Chuan Lai et al.   LANCET

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

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

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

(2012) Lambertus Klei et al.   Molecular Autism

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder

(2011) Thomas W. Frazier et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

Alpha, Dimension-Free, and Model-Based Internal Consistency Reliability

(2008) Peter M. Bentler   PSYCHOMETRIKA