Revisiting disease genes based on whole-exome sequencing in consanguineous populations

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

(2014) Özgecan Ayhan et al.   JOURNAL OF MEDICAL GENETICS

Guidelines for investigating causality of sequence variants in human disease

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

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

(2013) Sandra Mercier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

(2013) Ahmed B. Alsalem 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 Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

(2011) Shirli Israeli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

(2011) J Schicks et al.   CLINICAL GENETICS

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA