Related references
Note: Only part of the references are listed.Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2020)
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
Annalisa Buniello et al.
NUCLEIC ACIDS RESEARCH (2019)
Defining the distinct, intrinsic properties of the novel type I interferon, IFNε
Sebastian A. Stifter et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
Capucine Picard et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
Human gene essentiality
Istvan Bartha et al.
NATURE REVIEWS GENETICS (2018)
A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy
Karl L. Skorecki et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2018)
Ensembl 2018
Daniel R. Zerbino et al.
NUCLEIC ACIDS RESEARCH (2018)
Loose ends: almost one in five human genes still have unresolved coding status
Federico Abascal et al.
NUCLEIC ACIDS RESEARCH (2018)
Human genetics of infectious diseases: Unique insights into immunological redundancy
Jean-Laurent Casanova et al.
SEMINARS IN IMMUNOLOGY (2018)
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
Daichi Shigemizu et al.
SCIENTIFIC REPORTS (2018)
FUT2 Variants Confer Susceptibility to Familial Otitis Media
Regie Lyn P. Santos-Cortez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
OGEE v2: an update of the online gene essentiality database with special focus on differentially essential genes in human cancer cell lines
Wei-Hua Chen et al.
NUCLEIC ACIDS RESEARCH (2017)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Danish Saleheen et al.
NATURE (2017)
Tracing the peopling of the world through genomics
Rasmus Nielsen et al.
NATURE (2017)
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behcet's disease susceptibility
Masaki Takeuchi et al.
NATURE GENETICS (2017)
APOLs with low pH dependence can kill all African trypanosomes
Frederic Fontaine et al.
NATURE MICROBIOLOGY (2017)
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
Ali Abdullah Alfaiz et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes
Matthieu Deschamps et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery
Hendrik G. Stunnenberg et al.
CELL (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
The rules and impact of nonsense-mediated mRNA decay in human cancers
Rik G. H. Lindeboom et al.
NATURE GENETICS (2016)
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan et al.
SCIENCE (2016)
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
Vagheesh M. Narasimhan et al.
TRENDS IN MOLECULAR MEDICINE (2016)
The Ensembl gene annotation system
Bronwen L. Aken et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2016)
A critical role of solute carrier 22a14 in sperm motility and male fertility in mice
Shin-ya Maruyama et al.
SCIENTIFIC REPORTS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Frequency of CCR5 genotypes in HIV-infected patients in Roraima, Brazil
Andre de Lima Guerra Corado et al.
BRAZILIAN JOURNAL OF INFECTIOUS DISEASES (2016)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
The NAIP-NLRC4 inflammasome in innate immune detection of bacterial flagellin and type III secretion apparatus
Yue Zhao et al.
IMMUNOLOGICAL REVIEWS (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Identification of a large set of rare complete human knockouts
Patrick Sulem et al.
NATURE GENETICS (2015)
The human gene damage index as a gene-level approach to prioritizing exome variants
Yuval Itan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Human knockout research: new horizons and opportunities
Fowzan S. Alkuraya
TRENDS IN GENETICS (2015)
Cell-type Phylogenetics and the Origin of Endometrial Stromal Cells
Koryu Kin et al.
CELL REPORTS (2015)
Mapping Bias Overestimates Reference Allele Frequencies at the HLA Genes in the 1000 Genomes Project Phase I Data
Debora Y. C. Brandt et al.
G3-GENES GENOMES GENETICS (2015)
Epidemiologic Association Between FUT2 Secretor Status and Severe Rotavirus Gastroenteritis in Children in the United States
Daniel C. Payne et al.
JAMA PEDIATRICS (2015)
Both Lewis and Secretor Status Mediate Susceptibility to Rotavirus Infections in a Rotavirus Genotype-Dependent Manner
Johan Nordgren et al.
CLINICAL INFECTIOUS DISEASES (2014)
Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes
Antonio Rausell et al.
PLOS COMPUTATIONAL BIOLOGY (2014)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
Elaine T. Lim et al.
PLOS GENETICS (2014)
Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations
Helene Quach et al.
HUMAN MOLECULAR GENETICS (2013)
Current relaxation of selection on the human genome: Tolerance of deleterious mutations on olfactory receptors
Denis Pierron et al.
MOLECULAR PHYLOGENETICS AND EVOLUTION (2013)
The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
NATURE GENETICS (2013)
APPRIS: annotation of principal and alternative splice isoforms
Jose Manuel Rodriguez et al.
NUCLEIC ACIDS RESEARCH (2013)
Interferon-ε Protects the Female Reproductive Tract from Viral and Bacterial Infection
Ka Yee Fung et al.
SCIENCE (2013)
Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation
Ahmed B. Alsalem et al.
PLOS GENETICS (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Population genetic tools for dissecting innate immunity in humans
Lluis Quintana-Murci et al.
NATURE REVIEWS IMMUNOLOGY (2013)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
SnIPRE: Selection Inference Using a Poisson Random Effects Model
Kirsten E. Eilertson et al.
PLOS COMPUTATIONAL BIOLOGY (2012)
Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics
Jean-Laurent Casanova et al.
ANNUAL REVIEW OF IMMUNOLOGY, VOL 29 (2011)
Host Defense Pathways: Role of Redundancy and Compensation in Infectious Disease Phenotypes
Simone Nish et al.
IMMUNITY (2011)
Evolutionary genetic dissection of human interferons
Jeremy Manry et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2011)
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease
Dermot P. B. McGovern et al.
HUMAN MOLECULAR GENETICS (2010)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente et al.
NATURE GENETICS (2010)
From evolutionary genetics to human immunology: how selection shapes host defence genes
Luis B. Barreiro et al.
NATURE REVIEWS GENETICS (2010)
Divergence, demography and gene loss along the human lineage
Hie Lim Kim et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2010)
Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
Giulio Genovese et al.
SCIENCE (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
A Natural History of FUT2 Polymorphism in Humans
Anna Ferrer-Admetlla et al.
MOLECULAR BIOLOGY AND EVOLUTION (2009)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Da Wei Huang et al.
NATURE PROTOCOLS (2009)
FUNDAMENTAL CONCEPTS IN GENETICS Genetics in geographically structured populations: defining, estimating and interpreting FST
Kent E. Holsinger et al.
NATURE REVIEWS GENETICS (2009)
Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Bart Ferwerda et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Ensembl 2009
T. J. P. Hubbard et al.
NUCLEIC ACIDS RESEARCH (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Evolutionary Dynamics of Human Toll-Like Receptors and Their Different Contributions to Host Defense
Luis B. Barreiro et al.
PLOS GENETICS (2009)
Overdominance in the human genome and olfactory receptor activity
Santos Alonso et al.
MOLECULAR BIOLOGY AND EVOLUTION (2008)
The evolution of animal chemosensory receptor gene repertoires: roles of chance and necessity
Masatoshi Nei et al.
NATURE REVIEWS GENETICS (2008)
Mendelian resistance to human norovirus infections
Jacques Le Pendu et al.
SEMINARS IN IMMUNOLOGY (2006)
Human cell type diversity, evolution, development, and classification with special reference to cells derived from the neural crest
Matthew K. Vickaryous et al.
BIOLOGICAL REVIEWS (2006)
A map of recent positive selection in the human genome (vol 4, pg 154, 2006)
BF Voight et al.
PLOS BIOLOGY (2006)
Gene losses during human origins
XX Wang et al.
PLOS BIOLOGY (2006)
A map of recent positive selection in the human genome
BF Voight et al.
PLOS BIOLOGY (2006)
A homozygous nonsense mutation (428G→A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections
M Thorven et al.
JOURNAL OF VIROLOGY (2005)
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
G Courtois et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
Human susceptibility and resistance to Norwalk virus infection
L Lindesmith et al.
NATURE MEDICINE (2003)
Apolipoprotein L-I is the trypanosome lytic factor of human serum
L Vanhamme et al.
NATURE (2003)
Population differences in the human functional olfactory repertoire
Y Gilad et al.
MOLECULAR BIOLOGY AND EVOLUTION (2003)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)