(Q40216740)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

meta-analysis

0 references

title

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

genome-wide association study

19 March 2020

main subject

0 references

0 references

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Cardiac Genomics Consortium*

19 March 2020

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

2

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

3

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

6

Laura E Mitchell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

4

Anshuman Sewda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

A J Agopian

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

1 June 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

Circulation: Cardiovascular Genetics

19 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

e001449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

19 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Association analysis identifies new risk loci for congenital heart disease in Chinese populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

An integrated map of genetic variation from 1,092 human genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

An integrated encyclopedia of DNA elements in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Age of onset and effect size in genome-wide association studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genotype imputation with thousands of genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

A linear complexity phasing method for thousands of genomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Investigation of maternal effects, maternal-fetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

A map of human genome variation from population-scale sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Maternal folate-related gene environment interactions and congenital heart defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

LocusZoom: regional visualization of genome-wide association scan results

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

GWAMA: software for genome-wide association meta-analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Failure to replicate a genetic association may provide important clues about genetic architecture

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Family-based genome-wide association studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

PLINK: a tool set for whole-genome association and population-based linkage analyses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Bicuspid aortic valve is heritable

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

The International HapMap Project

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Expression of glutamine transporter Slc38a3 (SNAT3) during acidosis is mediated by a different mechanism than tissue-specific expression

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Functional annotation of noncoding sequence variants.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

A general framework for estimating the relative pathogenicity of human genetic variants

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

ENCODE data in the UCSC Genome Browser: year 5 update

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

PREMIM and EMIM: tools for estimation of maternal, imprinting and interaction effects using multinomial modelling

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Variants of folate metabolism genes and risk of left-sided cardiac defects

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genetic background of congenital conotruncal heart defects--a study of 45 families.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Infant mortality and congenital anomalies from 1950 to 1994: an international perspective

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

Genetic epidemiology of congenital heart diseases

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539991

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

20 August 2018

1 reference

12 December 2020

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

1 reference

12 December 2020

Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate

1 reference

12 December 2020

Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design

1 reference

12 December 2020

Distinguishing the Effects of Maternal and Offspring Genes through Studies of "Case-Parent Triads"

1 reference

12 December 2020

Recurrence of Congenital Heart Defects in Families

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

1 reference

12 December 2020

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

1 reference

12 December 2020

Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects

1 reference

12 December 2020

10.1161/CIRCGENETICS.116.001449

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28468790%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference