Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis

(2018) Ronald A. Panganiban et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

(2018) Eleni Zengini et al.   NATURE GENETICS

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

(2017) Nathan O. Stitziel et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

(2017) Danish Saleheen et al.   NATURE

Case–control association mapping by proxy using family history of disease

(2017) Jimmy Z Liu 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

Cardiovascular endocrinology: Is ANGPTL3 the next PCSK9?

(2017) Kiran Musunuru et al.   Nature Reviews Endocrinology

Low LDL cholesterol,PCSK9andHMGCRgenetic variation, and risk of Alzheimer’s disease and Parkinson’s disease: Mendelian randomisation study

(2017) Marianne Benn et al.   BMJ-British Medical Journal

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

(2017) Dirk Smith et al.   PLoS Genetics

Low LDL cholesterol,PCSK9andHMGCRgenetic variation, and risk of Alzheimer’s disease and Parkinson’s disease: Mendelian randomisation study

(2017) Marianne Benn et al.   BMJ-British Medical Journal

Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis

(2017) Andrew Hill et al.   GigaScience

FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis

(2017) Lynda Mottram et al.   Scientific Reports

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

(2016) Praveen Surendran et al.   NATURE GENETICS

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

(2016)   NEW ENGLAND JOURNAL OF MEDICINE

GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation

(2016) Sudipta Das et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

(2016) Vagheesh M. Narasimhan et al.   TRENDS IN MOLECULAR MEDICINE

Breaking sarcomeres by in vitro exercise

(2016) Zacharias Orfanos et al.   Scientific Reports

Functional, morphological, and apoptotic alterations in skeletal muscle of ARC deficient mice

(2015) Andrew S. Mitchell et al.   APOPTOSIS

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

(2015) Mitchell J. Machiela et al.   BIOINFORMATICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

IRF5 controls both acute and chronic inflammation

(2015) Miriam Weiss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

New Mendelian Disorders of Painlessness

(2015) Michael S. Nahorski et al.   TRENDS IN NEUROSCIENCES

The Association ofGSDMBandORMDL3Gene Polymorphisms With Asthma: A Meta-Analysis

(2015) Chun-Ni Zhao et al.   Allergy Asthma & Immunology Research

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Fucosyltransferase 2: A Genetic Risk Factor for Primary Sclerosing Cholangitis and Crohn's Disease—A Comprehensive Review

(2014) Luca Maroni et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

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

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

(2014) Yufei Wang et al.   NATURE GENETICS

Genetic Variations Affecting Serum Carcinoembryonic Antigen Levels and Status of Regional Lymph Nodes in Patients with Sporadic Colorectal Cancer from Southern China

(2014) Yu Liang et al.   PLoS One

UK Biobank Data: Come and Get It

(2014) N. E. Allen et al.   Science Translational Medicine

Genome-Wide Association Study of Metabolic Traits Reveals Novel Gene-Metabolite-Disease Links

(2014) Rico Rueedi et al.   PLoS Genetics

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk

(2013) Meian He et al.   GUT

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

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

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Apoptosis Repressor with a CARD Domain (ARC) Restrains Bax-Mediated Pathogenesis in Dystrophic Skeletal Muscle

(2013) Jennifer Davis et al.   PLoS One

Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta-analysis

(2013) Xiuzhi Jia et al.   RHEUMATOLOGY INTERNATIONAL

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

(2012) Xiaoling Lin et al.   HUMAN MOLECULAR GENETICS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Association study ofFUT2(rs601338) with celiac disease and inflammatory bowel disease in the Finnish population

(2012) A. S. Parmar et al.   TISSUE ANTIGENS

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment

(2012) Alessandra Cassio et al.   Journal of Clinical Research in Pediatric Endocrinology

Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism

(2011) Antonio Garcia-Rios et al.   ATHEROSCLEROSIS

FUT2 Nonsecretor Status Links Type 1 Diabetes Susceptibility and Resistance to Infection: TABLE 1

(2011) Deborah J. Smyth et al.   DIABETES

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Filaggrin Mutations Associated with Skin and Allergic Diseases

(2011) Alan D. Irvine et al.   NEW ENGLAND JOURNAL OF MEDICINE

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Additive effects of LPL, APOA5 and APOEvariant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

(2010) María-José Ariza et al.   BMC Medical Genetics

Loss-of-function variants in the genomes of healthy humans

(2010) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

Celiac disease: how complicated can it get?

(2010) Jennifer May-Ling Tjon et al.   IMMUNOGENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease

(2009) Dominique J. Verlaan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common variants of FUT2 are associated with plasma vitamin B12 levels

(2008) Aditi Hazra et al.   NATURE GENETICS