The population genetics of human disease: The case of recessive, lethal mutations

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

(2017) Christopher A Cassa et al.   NATURE GENETICS

Explosive genetic evidence for explosive human population growth

(2016) Feng Gao et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetic surfing in human populations: from genes to genomes

(2016) Stephan Peischl et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives

(2016) Yuval B Simons et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Minireview: Genetic basis of heterogeneity and severity in sickle cell disease

(2016) Alawi Habara et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

(2016) Imran S. Haque et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome

(2016) Varun Aggarwala et al.   NATURE GENETICS

Variation in the molecular clock of primates

(2016) Priya Moorjani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Limits of Natural Selection in a Nonequilibrium World

(2016) Yaniv Brandvain et al.   TRENDS IN GENETICS

Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans

(2016) Arbel Harpak et al.   PLoS Genetics

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

(2015) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

(2015) Tychele N. Turner et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

(2015) Harriet Corvol et al.   Nature Communications

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

(2015) Daniel J. Balick et al.   PLoS Genetics

Rescue of NBD2 Mutants N1303K and S1235R of CFTR by Small-Molecule Correctors and Transcomplementation

(2015) Daniele Rapino et al.   PLoS One

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

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

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

(2013) Tom Kamphans et al.   PLoS One

Neutral genomic regions refine models of recent rapid human population growth

(2013) E. Gazave et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2012) Wenqing Fu et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

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

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

Population genetics of malaria resistance in humans

(2011) P W Hedrick   HEREDITY

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content

(2011) Carina F Mugal et al.   GENOME BIOLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE