Related references
Note: Only part of the references are listed.Integrated description of protein dynamics from room-temperature X-ray crystallography and NMR
R. Bryn Fenwick et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
De novo mutations in histone-modifying genes in congenital heart disease
Samir Zaidi et al.
NATURE (2013)
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Mathieu Lemaire et al.
NATURE GENETICS (2013)
Sequencing studies in human genetics: design and interpretation
David B. Goldstein et al.
NATURE REVIEWS GENETICS (2013)
Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests
Timothy D. O'Connor et al.
PLOS ONE (2013)
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Yali Xue et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
Alexander G. Bick et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits
Biao Li et al.
BIOINFORMATICS (2012)
Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
Nadine Norton et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2012)
The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression
Thomas Derrien et al.
GENOME RESEARCH (2012)
GENCODE: The reference human genome annotation for The ENCODE Project
Jennifer Harrow et al.
GENOME RESEARCH (2012)
Large-Scale Objective Association of Mouse Phenotypes with Human Symptoms Through Structural Variation Identified in Patients with Developmental Disorders
Hannah Boulding et al.
HUMAN MUTATION (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S. Gargis et al.
NATURE BIOTECHNOLOGY (2012)
Massively parallel functional dissection of mammalian enhancers in vivo
Rupali P. Patwardhan et al.
NATURE BIOTECHNOLOGY (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
Karen A. Hunt et al.
NATURE GENETICS (2012)
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Bogdan Pasaniuc et al.
NATURE GENETICS (2012)
Exome sequencing and the genetic basis of complex traits
Adam Kiezun et al.
NATURE GENETICS (2012)
Differential confounding of rare and common variants in spatially structured populations
Iain Mathieson et al.
NATURE GENETICS (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Sharing research data to improve public health
Mark Walport et al.
LANCET (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Gregory M. Cooper et al.
NATURE REVIEWS GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
Gregory M. Cooper et al.
NATURE METHODS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Forging Links between Human Mental Retardation-Associated CNVs and Mouse Gene Knockout Models
Caleb Webber et al.
PLOS GENETICS (2009)
Reduced body weight is a common effect of gene knockout in mice
Danielle R. Reed et al.
BMC GENETICS (2008)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes
Kasper Lage et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Replicating genotype-phenotype associations
Stephen J. Chanock et al.
NATURE (2007)
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes
Lude Franke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Natural selection on protein-coding genes in the human genome
CD Bustamante et al.
NATURE (2005)
Lack of MEF2A mutations in coronary artery disease
L Weng et al.
JOURNAL OF CLINICAL INVESTIGATION (2005)
Dobzhansky-Muller incompatibilities in protein evolution
AS Kondrashov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Share Paper
