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

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

(2013) Elaine T. Lim et al.   NEURON

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

(2013) Li Liu et al.   PLoS Genetics

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of COL25A1 with Comorbid Antisocial Personality Disorder and Substance Dependence

(2012) Dawei Li et al.   BIOLOGICAL PSYCHIATRY

Inheritance Model Introduces Differential Bias in CNV Calls Between Parents and Offspring

(2012) Sulgi Kim et al.   GENETIC EPIDEMIOLOGY

The Rb/E2F Pathway Modulates Neurogenesis through Direct Regulation of the Dlx1/Dlx2 Bigene Cluster

(2012) N. Ghanem 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

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

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

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

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

(2012) Brian J O'Roak et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest

(2012) S P Angus et al.   ONCOGENE

DISC1 Conditioned GWAS for Psychosis Proneness in a Large Finnish Birth Cohort

(2012) Liisa Tomppo et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

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

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

PDZ-RhoGEF ubiquitination by Cullin3–KLHL20 controls neurotrophin-induced neurite outgrowth

(2011) Mei-Yao Lin et al.   JOURNAL OF CELL BIOLOGY

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

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

Do common variants play a role in risk for autism? Evidence and theoretical musings

(2010) Bernie Devlin et al.   BRAIN RESEARCH

A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiation

(2010) D. F. Sobieszczuk et al.   GENES & DEVELOPMENT

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

NMDA-induced neuronal survival is mediated through nuclear factor I-A in mice

(2010) Sika Zheng et al.   JOURNAL OF CLINICAL INVESTIGATION

Rb/E2F Regulates Expression of Neogenin during Neuronal Migration

(2010) M. G. Andrusiak et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2010) Dalila Pinto et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

Tackling the widespread and critical impact of batch effects in high-throughput data

(2010) Jeffrey T. Leek et al.   NATURE REVIEWS GENETICS

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

(2010) F. Bedogni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo

(2009) Ying Tong et al.   NEUROGENETICS