Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Human inborn errors of immunity: An expanding universe

(2020) Luigi D. Notarangelo et al.   Science Immunology

DeepPVP: phenotype-based prioritization of causative variants using deep learning

(2019) Imane Boudellioua et al.   BMC BIOINFORMATICS

Measuring intolerance to mutation in human genetics

(2019) Zachary L. Fuller et al.   NATURE GENETICS

ImmuneRegulation: a web-based tool for identifying human immune regulatory elements

(2019) Selim Kalayci et al.   NUCLEIC ACIDS RESEARCH

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(2019) Adam F. Johnson et al.   BIOLOGICAL REVIEWS

Severe influenza pneumonitis in children with inherited TLR3 deficiency

(2019) Hye Kyung Lim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Evolution of Cytogenetically Normal Acute Myeloid Leukemia During Therapy and Relapse: An Exome Sequencing Study of 50 Patients

(2018) Philipp A. Greif et al.   CLINICAL CANCER RESEARCH

Human genetics of infectious diseases: Unique insights into immunological redundancy

(2018) Jean-Laurent Casanova et al.   SEMINARS IN IMMUNOLOGY

Gene expression drives the evolution of dominance

(2018) Christian D. Huber et al.   Nature Communications

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Identifying disease genes using machine learning and gene functional similarities, assessed through Gene Ontology

(2018) Muhammad Asif et al.   PLoS One

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia

(2017) Meriem Ben-Ali et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2017) Christopher A Cassa et al.   NATURE GENETICS

Human gene essentiality

(2017) István Bartha et al.   NATURE REVIEWS GENETICS

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

(2016) Matthieu Deschamps et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

(2016) Korinna Kochinke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

missMDA: A Package for Handling Missing Values in Multivariate Data Analysis

(2016) Julie Josse et al.   Journal of Statistical Software

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

(2016) Monkol Lek et al.   NATURE

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

(2016) Varun Aggarwala et al.   NATURE GENETICS

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

(2015) Bertrand Boisson et al.   CURRENT OPINION IN IMMUNOLOGY

Rare Loss-of-Function Mutation in Complement Component C3 Provides Insight into Molecular and Pathophysiological Determinants of Complement Activity

(2015) Georgia Sfyroera et al.   JOURNAL OF IMMUNOLOGY

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GEEQBOX: AMATLABToolbox for Generalized Estimating Equations and Quasi-Least Squares

(2015) Sarah J. Ratcliffe et al.   Journal of Statistical Software

EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization

(2014) Owen J. L. Rackham et al.   NUCLEIC ACIDS RESEARCH

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

(2014) Jenna Hildebrandt et al.   Orphanet Journal of Rare Diseases

Autoimmunity by haploinsufficiency

(2014) F. Rieux-Laucat et al.   SCIENCE

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells

(2013) Bertrand Boisson et al.   JOURNAL OF CLINICAL INVESTIGATION

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

SnIPRE: Selection Inference Using a Poisson Random Effects Model

(2012) Kirsten E. Eilertson et al.   PLoS Computational Biology

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

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

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Darwinian and demographic forces affecting human protein coding genes

(2009) R. Nielsen et al.   GENOME RESEARCH

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY