Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis

(2014) Braden Fitterer et al.   MOLECULAR GENETICS AND METABOLISM

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

TRAP1 rescues PINK1 loss-of-function phenotypes

(2013) Li Zhang et al.   HUMAN MOLECULAR GENETICS

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

(2013) Victor Hernandez-Hernandez et al.   HUMAN MOLECULAR GENETICS

Properties and Modeling of GWAS when Complex Disease Risk Is Due to Non-Complementing, Deleterious Mutations in Genes of Large Effect

(2013) Kevin R. Thornton et al.   PLoS 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

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

Detecting Rare Variant Associations by Identity-by-Descent Mapping in Case-Control Studies

(2012) S. R. Browning et al.   GENETICS

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

(2011) Jaber Lyahyai et al.   Genetic Testing and Molecular Biomarkers

A Comparison of Approaches to Estimate the Inbreeding Coefficient and Pairwise Relatedness Using Genomic and Pedigree Data in a Sheep Population

(2011) Meng-Hua Li et al.   PLoS One

ZUSAMMENSETZUNG VON POPULATIONEN UND KORRELATIONSERSCHEINUNGEN VOM STANDPUNKT DER VERERBUNGSLEHRE AUS BETRACHTET

(2010) STEN WAHLUND   HEREDITAS

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

An Evolutionary Framework for Association Testing in Resequencing Studies

(2010) C. Ryan King et al.   PLoS Genetics