Guidelines for investigating causality of sequence variants in human disease

Integrated description of protein dynamics from room-temperature X-ray crystallography and NMR

(2014) R. B. Fenwick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

(2013) Mathieu Lemaire et al.   NATURE GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits

(2012) B. Li et al.   BIOINFORMATICS

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression

(2012) T. Derrien et al.   GENOME RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

(2012) Hannah Boulding et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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 encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

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

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Massively parallel functional dissection of mammalian enhancers in vivo

(2012) Rupali P Patwardhan et al.   NATURE BIOTECHNOLOGY

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson 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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

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

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

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Sharing research data to improve public health

(2011) Mark Walport et al.   LANCET

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

(2011) Karen A Hunt et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

Reduced body weight is a common effect of gene knockout in mice

(2008) Danielle R Reed et al.   BMC GENETICS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

(2008) K. Lage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA