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

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

(2015)   NATURE NEUROSCIENCE

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

(2015) Stephan J. Sanders et al.   NEURON

Deciphering H3K4me3 broad domains associated with gene-regulatory networks and conserved epigenomic landscapes in the human brain

(2015) A Dincer et al.   Translational Psychiatry

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

(2014) Jill A. Fahrner et al.   Annual Review of Genomics and Human Genetics

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

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

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do 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 general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2014) Michel Guipponi et al.   PLoS One

The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial

(2014) Carmel Moore et al.   Trials

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

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

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Xin He et al.   PLoS Genetics

Estimating Kinship in Admixed Populations

(2012) Timothy Thornton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Functional outcomes of adults with 22q11.2 deletion syndrome

(2012) Nancy J. Butcher et al.   GENETICS IN MEDICINE

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

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

(2012) Anita Rauch et al.   LANCET

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

(2012) Stephan J. Sanders et al.   NATURE

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

(2012) Bin Xu et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Age at onset and cognition in schizophrenia: meta-analysis

(2009) T. K. Rajji et al.   BRITISH JOURNAL OF PSYCHIATRY

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

Schizophrenia

(2009) Jim van Os et al.   LANCET

Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study

(2009) Paul Lichtenstein et al.   LANCET

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE