Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Truncating mutations in RBM12 are associated with psychosis

(2017) Stacy Steinberg 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

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

(2017) A. Jeremy Willsey et al.   NEURON

Cross Talk: The Microbiota and Neurodevelopmental Disorders

(2017) John R. Kelly et al.   Frontiers in Neuroscience

Beta-Poisson model for single-cell RNA-seq data analyses

(2016) Trung Nghia Vu et al.   BIOINFORMATICS

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

(2016) Lijiang Ma et al.   HUMAN GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

(2016) Alejandro Sifrim et al.   NATURE GENETICS

A scored human protein–protein interaction network to catalyze genomic interpretation

(2016) Taibo Li et al.   NATURE METHODS

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

(2016) Tarjinder Singh 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

Management of psychiatric and neurological comorbidities in epilepsy

(2016) Andres M. Kanner   Nature Reviews Neurology

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

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

(2016) Atsushi Takata et al.   NEURON

Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

(2016) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

Increased burden of deleterious variants in essential genes in autism spectrum disorder

(2016) Xiao Ji et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic research in autism spectrum disorders

(2015) Elise B. Robinson et al.   CURRENT OPINION IN PEDIATRICS

Genomic and Network Patterns of Schizophrenia Genetic Variation in Human Evolutionary Accelerated Regions

(2015) Ke Xu et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

(2015) Jinchen Li et al.   MOLECULAR PSYCHIATRY

An atlas of genetic correlations across human diseases and traits

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

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

(2015) Michael R Johnson et al.   NATURE NEUROSCIENCE

Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases

(2015) Guan Ning Lin et al.   NEURON

Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

(2015) Andrew J. Pocklington et al.   NEURON

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets

(2015) F Degenhardt et al.   Translational Psychiatry

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Describing the genetic architecture of epilepsy through heritability analysis

(2014) Doug Speed et al.   BRAIN

The developmental transcriptome of the human brain

(2014) Andrew T.N. Tebbenkamp et al.   CURRENT OPINION IN NEUROLOGY

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

(2014) Gea Beunders et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

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

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald 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

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

Gene Ontology Consortium: going forward

(2014)   NUCLEIC ACIDS RESEARCH

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

(2013) A S Cristino et al.   MOLECULAR PSYCHIATRY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) S Hong Lee et al.   NATURE GENETICS

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

(2013) Xin He et al.   PLoS Genetics

SynaptomeDB: an ontology-based knowledgebase for synaptic genes

(2012) Mehdi Pirooznia et al.   BIOINFORMATICS

Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

(2012) James P. Clement et al.   CELL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

(2012) E Ben-David et al.   MOLECULAR PSYCHIATRY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Allele-Biased Expression in Differentiating Human Neurons: Implications for Neuropsychiatric Disorders

(2012) Mingyan Lin et al.   PLoS One

CELF4 Regulates Translation and Local Abundance of a Vast Set of mRNAs, Including Genes Associated with Regulation of Synaptic Function

(2012) Jacy L. Wagnon et al.   PLoS Genetics

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

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

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

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

(2009) Paul Lichtenstein et al.   LANCET

Bayesian statistical methods for genetic association studies

(2009) Matthew Stephens et al.   NATURE REVIEWS GENETICS