Measuring intolerance to mutation in human genetics

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

A population genetic interpretation of GWAS findings for human quantitative traits

(2018) Yuval B. Simons et al.   PLOS BIOLOGY

A map of constrained coding regions in the human genome

(2018) James M. Havrilla et al.   NATURE GENETICS

Inference of the Distribution of Selection Coefficients for New Nonsynonymous Mutations Using Large Samples

(2017) Bernard Y. Kim et al.   GENETICS

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

(2017) Mehdi Zarrei et al.   GENETICS IN MEDICINE

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

(2017) Christopher A Cassa et al.   NATURE GENETICS

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Human gene essentiality

(2017) István Bartha et al.   NATURE REVIEWS GENETICS

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants

(2017) Nehal Gosalia et al.   NUCLEIC ACIDS RESEARCH

Murine model indicates 22q11.2 signaling adaptorCRKLis a dosage-sensitive regulator of genitourinary development

(2017) Meade Haller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

(2017) Hoang T. Nguyen et al.   Genome Medicine

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

(2017) Carlos Eduardo G. Amorim et al.   PLoS Genetics

Inference of the Distribution of Selection Coefficients for New Nonsynonymous Mutations Using Large Samples

(2017) Bernard Y. Kim et al.   GENETICS

Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

(2016) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) Monkol Lek et al.   NATURE

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Haploinsufficiency predictions without study bias

(2015) Julia Steinberg et al.   NUCLEIC ACIDS RESEARCH

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

(2015) István Bartha et al.   PLoS Computational Biology

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Inferring human population size and separation history from multiple genome sequences

(2014) Stephan Schiffels et al.   NATURE GENETICS

Approximation to the Distribution of Fitness Effects across Functional Categories in Human Segregating Polymorphisms

(2014) Fernando Racimo et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

The importance of elastin to aortic development in mice

(2010) Jessica E. Wagenseil et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Inferences About the Distribution of Dominance Drawn From Yeast Gene Knockout Data

(2010) A. F. Agrawal et al.   GENETICS

Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis

(2010) Frédéric B. Piel et al.   Nature Communications

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Fitness and its role in evolutionary genetics

(2009) H. Allen Orr   NATURE REVIEWS GENETICS

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

The Mouse Genome Database genotypes::phenotypes

(2008) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

(2008) Adam R. Boyko et al.   PLoS Genetics