Phenome-wide association studies (PheWASs) for functional variants (Q36337917)

13 August 2017

Phenome-wide association studies (PheWASs) for functional variants (English)

1 reference

13 August 2017

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Zhan Ye

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

John Mayer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Lynn Ivacic

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Zhiyi Zhou

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Min He

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

David Page

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Murray H Brilliant

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Scott J Hebbring

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

30 July 2014

1 reference

European Journal of Human Genetics

13 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

523-529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.123

31 May 2020

exact match

0 references

cites work

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

The challenges, advantages and future of phenome-wide association studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

A PheWAS approach in studying HLA-DRB1*1501.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

NMD: a multifaceted response to premature translational termination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Genome-wide association study of conduct disorder symptomatology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Genetics and genomics of ankylosing spondylitis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Variants conferring risk of atrial fibrillation on chromosome 4q25.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

HTRA1 promoter polymorphism in wet age-related macular degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

Gallbladder cancer: lessons from a rare tumour

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666492

The Human Gene Mutation Database: 2008 update

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.123

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.123

Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25074467

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074467%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference