Excess of rare, inherited truncating mutations in autism

Using theRPackagecrlmmfor Genotyping and Copy Number Estimation

(2015) Robert B. Scharpf et al.   Journal of Statistical Software

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

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 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

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

(2014) Shan Dong et al.   Cell Reports

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

(2014) Holly N Cukier et al.   Molecular Autism

Transmission Disequilibrium of Small CNVs in Simplex Autism

(2013) Niklas Krumm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

(2013) Zongxiao He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature

(2013) Frédérique Béna et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Insulin-like growth factor and the etiology of autism

(2013) Gary Steinman et al.   MEDICAL HYPOTHESES

The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes

(2013) Alicia Subtil-Rodríguez et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

(2013) Ozlem Bozdagi et al.   Molecular Autism

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Pablo Cingolani et al.   FLY

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

A Novel 4EHP-GIGYF2 Translational Repressor Complex Is Essential for Mammalian Development

(2012) M. Morita et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Digenic inheritance and Mendelian disease

(2012) James R Lupski   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

The Complement Control-Related Genes CSMD1 and CSMD2 Associate to Schizophrenia

(2011) Bjarte Håvik et al.   BIOLOGICAL PSYCHIATRY

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

(2011) Jennifer C. Darnell et al.   CELL

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

An OBSL1-Cul7Fbxw8 Ubiquitin Ligase Signaling Mechanism Regulates Golgi Morphology and Dendrite Patterning

(2011) Nadia Litterman et al.   PLOS BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

mrsFAST: a cache-oblivious algorithm for short-read mapping

(2010) Faraz Hach et al.   NATURE METHODS

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

(2010) Gerald D. Fischbach et al.   NEURON

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

(2009) M. E. Ritchie et al.   BIOINFORMATICS

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY