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

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology

(2022) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF PSYCHIATRY

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

(2022) Pierrick Wainschtein et al.   NATURE GENETICS

Customized de novo mutation detection for any variant calling pipeline: SynthDNM

(2021) Aojie Lian et al.   BIOINFORMATICS

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

(2020) F. Kyle Satterstrom et al.   CELL

The Association Between Parental Age and Autism‐Related Outcomes in Children at High Familial Risk for Autism

(2020) Kristen Lyall et al.   Autism Research

A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles

(2020) Nancy Y. A. Sey et al.   NATURE NEUROSCIENCE

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

(2019) Xuanyao Liu et al.   CELL

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

(2019) Damon Polioudakis et al.   NEURON

PRSice-2: Polygenic Risk Score software for biobank-scale data

(2019) Shing Wan Choi et al.   GigaScience

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

(2019) Max Lam et al.   BIOINFORMATICS

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

(2019) Pamela Feliciano et al.   npj Genomic Medicine

Improved polygenic prediction by Bayesian multiple regression on summary statistics

(2019) Luke R. Lloyd-Jones et al.   Nature Communications

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

(2019) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrating single-cell transcriptomic data across different conditions, technologies, and species

(2018) Andrew Butler et al.   NATURE BIOTECHNOLOGY

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

Analysis of shared heritability in common disorders of the brain

(2018) et al.   SCIENCE

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

(2018) Sarah E. Bergen et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

Reproductive fitness and genetic risk of psychiatric disorders in the general population

(2017) Niamh Mullins et al.   Nature Communications

Shared genetic aetiology between cognitive functions and physical and mental health in UK Biobank (N=112 151) and 24 GWAS consortia

(2016) S P Hagenaars et al.   MOLECULAR 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

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

(2016) Debra D’Angelo et al.   JAMA Psychiatry

The role of sex-differential biology in risk for autism spectrum disorder

(2016) Donna M. Werling   Biology of Sex Differences

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

(2015) Evan Z. Macosko et al.   CELL

Increased female autosomal burden of rare copy number variants in human populations and in autism families

(2015) G Desachy et al.   MOLECULAR 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

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

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

(2015) Stephan J. Sanders et al.   NEURON

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

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

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

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

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Sex differences in autism spectrum disorders

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

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

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

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Autism Risk Across Generations

(2013) Emma M. Frans et al.   JAMA Psychiatry

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

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

(2012) Augustine Kong et al.   NATURE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Trajectories leading to autism spectrum disorders are affected by paternal age: findings from two nationally representative twin studies

(2010) Sebastian Lundström et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Missing heritability: paternal age effect mutations and selfish spermatogonia

(2010) Anne Goriely et al.   NATURE REVIEWS GENETICS

Social and demographic factors that influence the diagnosis of autistic spectrum disorders

(2010) Ginny Russell et al.   SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS