Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

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

(2013) Elaine T. Lim et al.   NEURON

Global Prevalence of Autism and Other Pervasive Developmental Disorders

(2012) Mayada Elsabbagh et al.   Autism Research

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

(2012) Valeria Capra et al.   BMC Medical Genetics

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Annual Research Review: Re-thinking the classification of autism spectrum disorders

(2012) Catherine Lord et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Drp2 and Periaxin Form Cajal Bands with Dystroglycan But Have Distinct Roles in Schwann Cell Growth

(2012) D. L. Sherman et al.   JOURNAL OF NEUROSCIENCE

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 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 and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Autism spectrum disorders and autistic traits: A decade of new twin studies

(2011) Angelica Ronald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes

(2011) Tune H. Pers et al.   GENETIC EPIDEMIOLOGY

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

(2011) Takashi Arai et al.   JOURNAL OF HUMAN GENETICS

Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency

(2011) P-S Cheah et al.   MOLECULAR PSYCHIATRY

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

(2011) Xose S. Puente et al.   NATURE

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

The 14-3-3 proteins in regulation of cellular metabolism

(2011) Rune Kleppe et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Neuroproteomics of Schizophrenia

(2010) Jane A. English et al.   BIOLOGICAL PSYCHIATRY

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Babelomics: an integrative platform for the analysis of transcriptomics, proteomics and genomic data with advanced functional profiling

(2010) Ignacio Medina et al.   NUCLEIC ACIDS RESEARCH

Family-based association ofYWHAHin psychotic bipolar disorder

(2009) Deepak Grover et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia

(2008) Masashi Ikeda et al.   HUMAN MOLECULAR GENETICS