From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes

Rare Inherited Variation in Autism: Beginning to See the Forest and a Few Trees

(2013) Jason L. Stein et al.   NEURON

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

(2012) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large-Scale Cellular-Resolution Gene Profiling in Human Neocortex Reveals Species-Specific Molecular Signatures

(2012) Hongkui Zeng et al.   CELL

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   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

The Emerging Biology of Autism Spectrum Disorders

(2012) M. W. State et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

The Orphan Disease Networks

(2011) Minlu Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Defining the Role of Essential Genes in Human Disease

(2011) Jonathan E. Dickerson et al.   PLoS One

Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology

(2011) Elizabeth J. Rossin et al.   PLoS Genetics

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

(2010) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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

(2009) Prateek Kumar et al.   Nature Protocols

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

Null mutations in human and mouse orthologs frequently result in different phenotypes

(2008) B.-Y. Liao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA