Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. (Q46564299)

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1 April 2020

title

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (English)

1 reference

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1 April 2020

main subject

congenital heart disease

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12

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Sheng Chih Jin

1

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Qiongshi Lu

4

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Steven R DePalma

6

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James Knight

14

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Stephan J. Sanders

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Seema Mital

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John E. Deanfield

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George A Porter

26

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Cecilia Lo

28

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Bruce D. Gelb

42

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Christine E. Seidman

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Martina Brueckner

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39

Elizabeth Goldmuntz

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Jane W Newburger

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author name string

Jason Homsy

2

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Samir Zaidi

3

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Sarah Morton

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Xue Zeng

7

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Hongjian Qi

8

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Weni Chang

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Michael C Sierant

10

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Wei-Chien Hung

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Junhui Zhang

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Robert D Bjornson

15

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Christopher Castaldi

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Irina R Tikhonoa

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Shrikant M Mane

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Mark W Russell

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Yufeng Shen

29

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W Scott Watkins

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Mark Yandell

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H Joseph Yost

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Martin Tristani-Firouzi

33

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Richard Kim

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Jonathan R Kaltman

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Wendy K Chung

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Jonathan G Seidman

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publication date

9 October 2017

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language of work or name

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volume

49

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issue

11

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1 April 2020

page(s)

1593-1601

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Genetics and Genomics of Congenital Heart Disease

1 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease: A Nationwide Cohort Study

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Congenital Heart Disease and Primary Ciliary Dyskinesia.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

A global reference for human genetic variation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Excess of rare, inherited truncating mutations in autism

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

A Bayesian framework for de novo mutation calling in parents-offspring trios

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

The contribution of de novo coding mutations to autism spectrum disorder

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Synaptic, transcriptional and chromatin genes disrupted in autism

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Long-Term Outcomes in Children with Congenital Heart Disease: National Health Interview Survey

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

A framework for the interpretation of de novo mutation in human disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Factors associated with neurodevelopment for children with single ventricle lesions

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Ancestry estimation and control of population stratification for sequence-based association studies

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

De novo mutations in histone-modifying genes in congenital heart disease.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

A probabilistic disease-gene finder for personal genomes.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Comparison of shunt types in the Norwood procedure for single-ventricle lesions

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Long-range action of Nodal requires interaction with GDF1.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Principal components analysis corrects for stratification in genome-wide association studies

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Mutation in myosin heavy chain 6 causes atrial septal defect

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Regulation of left-right patterning in mice by growth/differentiation factor-1

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome 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=5675000

Interpreting de novo Variation in Human Disease Using denovolyzeR.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

DMLE+: Bayesian linkage disequilibrium gene mapping

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675000

Consanguinity and the risk of congenital heart disease

15 August 2018

1 reference

Recurrence of Congenital Heart Defects in Families

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Mitral valve morphology and morbidity/mortality in Shone's complex

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Influence of genetic and maternal diabetes in the pathogenesis of visceroatrial heterotaxy in mice

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3970

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28991257%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28991257%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

PubMed publication ID

28991257

1 reference