(Q52310633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Maléne E Lindholm

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Euan Ashley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Mark Joseph Daly

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

9

Carlos D Bustamante

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

author name string

Christopher DeBoever

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Greg McInnes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Adam Lavertu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Chris Chang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Manuel A Rivas

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Erik Ingelsson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

language of work or name

English

0 references

publication date

24 April 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

volume

9

1 reference

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24 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

page(s)

1612

1 reference

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Creative Commons Attribution 4.0 International

24 March 2020

copyright license

start time

24 April 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

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An Expanded View of Complex Traits: From Polygenic to Omnigenic

3 July 2018

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Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

3 July 2018

1 reference

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study

3 July 2018

1 reference

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

3 July 2018

1 reference

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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

3 July 2018

1 reference

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

3 July 2018

1 reference

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

3 July 2018

1 reference

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

3 July 2018

1 reference

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

The genetic architecture of type 2 diabetes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

The Ensembl Variant Effect Predictor

3 July 2018

1 reference

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Detection and interpretation of shared genetic influences on 42 human traits

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Breaking sarcomeres by in vitro exercise

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

New Mendelian Disorders of Painlessness

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

IRF5 controls both acute and chronic inflammation.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Identification of a large set of rare complete human knockouts

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

The Association of GSDMB and ORMDL3 Gene Polymorphisms With Asthma: A Meta-Analysis

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Distribution and medical impact of loss-of-function variants in the Finnish founder population

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Fucosyltransferase 2: a genetic risk factor for primary sclerosing cholangitis and Crohn's disease--a comprehensive review

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Guidelines for investigating causality of sequence variants in human disease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

A polygenic burden of rare disruptive mutations in schizophrenia

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Apoptosis repressor with a CARD domain (ARC) restrains Bax-mediated pathogenesis in dystrophic skeletal muscle

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

A systematic survey of loss-of-function variants in human protein-coding genes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Filaggrin mutations associated with skin and allergic diseases.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Replication of GWAS Associations for GAK and MAPT in Parkinson's Disease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Celiac disease: how complicated can it get?

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Common variants of FUT2 are associated with plasma vitamin B12 levels

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Parental phenotypes in family-based association analysis

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Nonsense-mediated decay approaches the clinic

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Human susceptibility and resistance to Norwalk virus infection

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Identification of ubiquitin ligases required for skeletal muscle atrophy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Identification of a gene that causes primary open angle glaucoma.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

Cardiovascular endocrinology: Is ANGPTL3 the next PCSK9?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

UK biobank data: come and get it.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915386

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

13 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-03910-9

7 January 2021

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-03910-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-03910-9

7 January 2021

The control of the false discovery rate in multiple testing under dependency

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-03910-9

7 January 2021

10.1038/S41467-018-03910-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29691392%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

PubMed publication ID

29691392

1 reference