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

Fast and accurate short read alignment with Burrows–Wheeler transform

2009 • 51,582 citations

Mapping and quantifying mammalian transcriptomes by RNA-Seq

2008 • 12,817 citations

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

2011 • 10,899 citations

The World Mental Health (WMH) Survey Initiative version of the World Health Organization (WHO) Composite International Diagnostic Interview (CIDI)

2004 • 4,583 citations

Cytoscape 2.8: new features for data integration and network visualization

2010 • 4,569 citations

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

2010 • 4,084 citations

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

2012 • 2,029 citations

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

2011 • 1,778 citations

Computing topological parameters of biological networks

2007 • 1,710 citations

A copy number variation morbidity map of developmental delay

2011 • 1,265 citations

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

2011 • 1,234 citations

Estimating the Number of Classes via Sample Coverage

1992 • 1,233 citations

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

2011 • 1,194 citations

Target-enrichment strategies for next-generation sequencing

2010 • 1,157 citations

GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function

2008 • 927 citations

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

2010 • 899 citations

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

2010 • 797 citations

Rate, molecular spectrum, and consequences of human mutation

2010 • 778 citations

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

2011 • 700 citations

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder

2007 • 699 citations

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

2010 • 687 citations

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

2011 • 684 citations

Estimating the Number of Species: A Review

1993 • 668 citations

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

2009 • 580 citations

Exome sequencing supports a de novo mutational paradigm for schizophrenia

2011 • 464 citations

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

2010 • 460 citations

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

2010 • 426 citations

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

2010 • 306 citations

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

2009 • 260 citations

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

2011 • 222 citations

The ups and downs of Wnt signaling in prevalent neurological disorders

2006 • 216 citations

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates β-Catenin Target Genes

2008 • 188 citations

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

2009 • 186 citations

Wnt signaling: multiple functions in neural development

2005 • 174 citations

DA DA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization

2011 • 167 citations

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

2008 • 162 citations

The non‐apoptotic role of p53 in neuronal biology: enlightening the dark side of the moon

2009 • 156 citations

Autism genetics: strategies, challenges, and opportunities

2008 • 142 citations

Axonal netrin-Gs transneuronally determine lamina-specific subdendritic segments

2007 • 124 citations

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

2011 • 103 citations

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

2005 • 99 citations

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

2010 • 87 citations

V<scp>avien</scp>: An Algorithm for Prioritizing Candidate Disease Genes Based on Topological Similarity of Proteins in Interaction Networks

2011 • 83 citations

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

2008 • 29 citations

NIMH Human Genetics Initiative: 2003 Update

2003 • 27 citations

A comparison between screened NIMH and clinically interviewed control samples on neuroticism and extraversion

2007 • 21 citations

Disease Gene Prioritization Based on Topological Similarity in Protein-Protein Interaction Networks

2011 • 13 citations