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

[1]  Kari Stefansson,et al.  Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis , 2018, Nature Genetics.

[2]  E. Israel,et al.  A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis , 2018, The Journal of allergy and clinical immunology.

[3]  F. Qadri,et al.  FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis , 2017, Scientific Reports.

[4]  Fang Liu,et al.  The sponge microbiome project , 2017, GigaScience.

[5]  A. Uitterlinden,et al.  The genetic architecture of osteoarthritis: insights from UK Biobank , 2017, bioRxiv.

[6]  P. Donnelly,et al.  Genome-wide genetic data on ~500,000 UK Biobank participants , 2017, bioRxiv.

[7]  Cardiovascular endocrinology: Is ANGPTL3 the next PCSK9? , 2017, Nature Reviews Endocrinology.

[8]  Yang I Li,et al.  An Expanded View of Complex Traits: From Polygenic to Omnigenic , 2017, Cell.

[9]  F. Q. Ribeiro.  The meta-analysis , 2017, Brazilian journal of otorhinolaryngology.

[10]  Giovanni Malerba,et al.  Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes , 2017, Nature Genetics.

[11]  L. Liang,et al.  Shared Genetic Architecture between Asthma and Allergic Diseases: A Genome-Wide Cross Trait Analysis of 112,000 Individuals from UK Biobank , 2017, bioRxiv.

[12]  B. Nordestgaard,et al.  Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer’s disease and Parkinson’s disease: Mendelian randomisation study , 2017, British Medical Journal.

[13]  J. Danesh,et al.  ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. , 2017, Journal of the American College of Cardiology.

[14]  Daniel G. MacArthur,et al.  Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity , 2017, Nature.

[15]  D. Gudbjartsson,et al.  A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma , 2017, PLoS genetics.

[16]  Yaniv Erlich,et al.  Case–control association mapping by proxy using family history of disease , 2017, Nature Genetics.

[17]  Jingbo Shang,et al.  Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis , 2017, GigaScience.

[18]  S. Oliver,et al.  Estimating the total number of phosphoproteins and phosphorylation sites in eukaryotic proteomes , 2017, GigaScience.

[19]  Stephan J Sanders,et al.  Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples , 2016, Nature Genetics.

[20]  James T. Elder,et al.  Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants , 2016, Nature Communications.

[21]  Q. Hamid,et al.  GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation , 2016, Proceedings of the National Academy of Sciences.

[22]  Xintao Wei,et al.  Erratum: A benchmark for RNA-seq quantification pipelines [Genome Biol. (2016), 17, 74], DOI: 10.1186/s13059-016-0940-1 , 2016 .

[23]  He Zhang,et al.  Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension , 2016, Nature Genetics.

[24]  Stephen C. J. Parker,et al.  The genetic architecture of type 2 diabetes , 2016, Nature.

[25]  C. Tyler-Smith,et al.  Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? , 2016, Trends in molecular medicine.

[26]  Dermot F. Reilly,et al.  Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease , 2018 .

[27]  F. Cunningham,et al.  The Ensembl Variant Effect Predictor , 2016, Genome Biology.

[28]  Dieter O. Fürst,et al.  Breaking sarcomeres by in vitro exercise , 2016, Scientific Reports.

[29]  Harry Hemingway,et al.  Health and population effects of rare gene knockouts in adult humans with related parents , 2015, Science.

[30]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[31]  Beryl B. Cummings,et al.  A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis , 2015, Nature Communications.

[32]  J. Danesh,et al.  Human knockouts in a cohort with a high rate of consanguinity , 2015, bioRxiv.

[33]  C. Woods,et al.  New Mendelian Disorders of Painlessness , 2015, Trends in Neurosciences.

[34]  Mitchell J. Machiela,et al.  LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants , 2015, Bioinform..

[35]  M. Feldmann,et al.  IRF5 controls both acute and chronic inflammation , 2015, Proceedings of the National Academy of Sciences.

[36]  G. Montgomery,et al.  Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. , 2015, Investigative ophthalmology & visual science.

[37]  Tomaz Berisa,et al.  Detection and interpretation of shared genetic influences on 40 human traits , 2015 .

[38]  Emily K. Tsang,et al.  Effect of predicted protein-truncating genetic variants on the human transcriptome , 2015, Science.

[39]  H. Stefánsson,et al.  Identification of a large set of rare complete human knockouts , 2015, Nature Genetics.

[40]  P. Elliott,et al.  UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age , 2015, PLoS medicine.

[41]  Tong Wang,et al.  The Association of GSDMB and ORMDL3 Gene Polymorphisms With Asthma: A Meta-Analysis , 2014, Allergy, asthma & immunology research.

[42]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[43]  U. Beuers,et al.  Fucosyltransferase 2: A Genetic Risk Factor for Primary Sclerosing Cholangitis and Crohn's Disease—A Comprehensive Review , 2015, Clinical Reviews in Allergy & Immunology.

[44]  S. Donath,et al.  Functional, morphological, and apoptotic alterations in skeletal muscle of ARC deficient mice , 2015, Apoptosis.

[45]  Andres Metspalu,et al.  Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population , 2014, PLoS genetics.

[46]  S. O’Brien,et al.  Genetic Variations Affecting Serum Carcinoembryonic Antigen Levels and Status of Regional Lymph Nodes in Patients with Sporadic Colorectal Cancer from Southern China , 2014, PloS one.

[47]  William Wheeler,et al.  Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer , 2014, Nature Genetics.

[48]  D. G. MacArthur,et al.  Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.

[49]  C. Sudlow,et al.  UK Biobank Data: Come and Get It , 2014, Science Translational Medicine.

[50]  Eric S. Lander,et al.  A polygenic burden of rare disruptive mutations in schizophrenia , 2014, Nature.

[51]  Christoph Steinbeck,et al.  Genome-Wide Association Study of Metabolic Traits Reveals Novel Gene-Metabolite-Disease Links , 2014, PLoS genetics.

[52]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[53]  Deanna M. Church,et al.  ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..

[54]  J. Horwood.  UK Biobank Data: Come and Get It , 2014 .

[55]  R. Kitsis,et al.  Apoptosis Repressor with a CARD Domain (ARC) Restrains Bax-Mediated Pathogenesis in Dystrophic Skeletal Muscle , 2013, PloS one.

[56]  Huan Ren,et al.  Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta-analysis , 2013, Rheumatology International.

[57]  F. Hu,et al.  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, Gut.

[58]  A. Cassio,et al.  Current Loss-of-Function Mutations in the Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment , 2012, Journal of clinical research in pediatric endocrinology.

[59]  K. Kaukinen,et al.  Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. , 2012, Tissue antigens.

[60]  J. Trent,et al.  Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. , 2012, Human molecular genetics.

[61]  Joseph K. Pickrell,et al.  A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes , 2012, Science.

[62]  J. Todd,et al.  FUT2 Nonsecretor Status Links Type 1 Diabetes Susceptibility and Resistance to Infection , 2011, Diabetes.

[63]  Joshua M. Korn,et al.  Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease , 2011, Nature Genetics.

[64]  A. Irvine,et al.  Filaggrin mutations associated with skin and allergic diseases. , 2011, The New England journal of medicine.

[65]  Christine M. Williams,et al.  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, Atherosclerosis.

[66]  Beate Ritz,et al.  Replication of GWAS Associations for GAK and MAPT in Parkinson's Disease , 2010, Annals of human genetics.

[67]  Tariq Ahmad,et al.  Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci , 2010, Nature Genetics.

[68]  D. MacArthur,et al.  Loss-of-function variants in the genomes of healthy humans. , 2010, Human molecular genetics.

[69]  J. van Bergen,et al.  Celiac disease: how complicated can it get? , 2010, Immunogenetics.

[70]  A. Robeznieks,et al.  Come and get IT. , 2010, Modern healthcare.

[71]  Marylyn D. Ritchie,et al.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..

[72]  P. González-Sántos,et al.  Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study , 2010, BMC Medical Genetics.

[73]  K. Dewar,et al.  Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. , 2009, American journal of human genetics.

[74]  S. Chanock,et al.  Common variants of FUT2 are associated with plasma vitamin B12 levels , 2008, Nature Genetics.

[75]  C. Hansen.  Table A.1 , 2007 .

[76]  Jonathan C. Cohen,et al.  Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. , 2006, The New England journal of medicine.

[77]  Eric Boerwinkle,et al.  Sequence Variations in PCSK 9 , Low LDL , and Protection against Coronary Heart Disease , 2006 .

[78]  Pak Sham,et al.  Parental phenotypes in family-based association analysis. , 2005, American journal of human genetics.

[79]  Alexander Pertsemlidis,et al.  Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 , 2005, Nature Genetics.

[80]  M. Hentze,et al.  Nonsense-mediated decay approaches the clinic , 2004, Nature Genetics.

[81]  Xi Jiang,et al.  Human susceptibility and resistance to Norwalk virus infection , 2003, Nature Medicine.

[82]  D J Glass,et al.  Identification of Ubiquitin Ligases Required for Skeletal Muscle Atrophy , 2001, Science.

[83]  Y. Benjamini,et al.  THE CONTROL OF THE FALSE DISCOVERY RATE IN MULTIPLE TESTING UNDER DEPENDENCY , 2001 .

[84]  F. Christiansen,et al.  The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases , 1999, Immunological reviews.

[85]  S. Chen,et al.  ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[86]  V. Sheffield,et al.  Identification of a Gene That Causes Primary Open Angle Glaucoma , 1997, Science.