Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

(2017) Tarjinder Singh et al.   NATURE GENETICS

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

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

(2016) Candace T. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

(2016) Christian R Marshall et al.   NATURE GENETICS

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

(2016) Andrea Ganna et al.   NATURE NEUROSCIENCE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

(2016) Atsushi Takata et al.   NEURON

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene

(2014) Atsushi Takata et al.   NEURON

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

(2014) Michel Guipponi et al.   PLoS One

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

(2014) Elise B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of copy number variations at 15 schizophrenia-associated loci

(2013) Elliott Rees et al.   BRITISH JOURNAL OF PSYCHIATRY

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

(2012) S Hong Lee et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Quantitative evaluation of all hexamers as exonic splicing elements

(2011) Shengdong Ke et al.   GENOME RESEARCH

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE