(Q30849515)

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

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Europe PubMed Central

PMC publication ID

13 October 2017

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

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Europe PubMed Central

PMC publication ID

13 October 2017

congenital disorder

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single-nucleotide polymorphism

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based on heuristic

inferred from title

congenital heart disease

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based on heuristic

inferred from title

Stephan J. Sanders

13

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13 October 2017

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Jeremy Leipzig

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13 October 2017

Hakon Hakonarson

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Hakon Hakonarson

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13 October 2017

Elizabeth Goldmuntz

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Elizabeth Goldmuntz

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13 October 2017

Dorothy Warburton

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Dorothy Warburton

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13 October 2017

Christine E. Seidman

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Christine Seidman

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13 October 2017

Joseph Glessner

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Joseph T Glessner

2 references

ORCID Public Data File 2021

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13 October 2017

Jonathan R Kaltman

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Jonathan R Kaltman

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13 October 2017

Martina Brueckner

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Martina Brueckner

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13 October 2017

Jonathan G Seidman

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Jonathan Seidman

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13 October 2017

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Jason Homsy

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13 October 2017

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Ryan Golhar

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13 October 2017

Steven R DePalma

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Steven R DePalma

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13 October 2017

Alexander G. Bick

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Alexander G Bick

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13 October 2017

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Bruce D Gelb

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13 October 2017

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Erica Mazaika

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13 October 2017

author name string

Kaoru Ito

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13 October 2017

Laura Rodriguez-Murillo

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13 October 2017

Menachem Fromer

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13 October 2017

Badri Vardarajan

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13 October 2017

Michael Italia

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13 October 2017

Boris Yamrom

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13 October 2017

Michael Ronemus

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13 October 2017

Ivan Iossifov

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13 October 2017

A Jeremy Willsey

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13 October 2017

Matthew W State

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13 October 2017

Peter S White

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13 October 2017

Yufeng Shen

21

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Richard Lifton

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Wendy K Chung

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13 October 2017

publication date

9 September 2014

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13 October 2017

Circulation Research

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13 October 2017

115

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10

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884-896

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13 October 2017

CNVs conferring risk of autism or schizophrenia affect cognition in controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Effect of copy number variants on outcomes for infants with single ventricle heart defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Genetic architecture of reciprocal CNVs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Genetics of congenital heart disease: the glass half empty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

ParseCNV integrative copy number variation association software with quality tracking.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Rare copy number variants contribute to congenital left-sided heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

De Novo Gene Disruptions in Children on the Autistic Spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

A comprehensive resource of interacting protein regions for refining human transcription factor networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

20-year survival of children born with congenital anomalies: a population-based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

GATA4 sequence variants in patients with congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Signaling-dependent and coordinated regulation of transcription, splicing, and translation resides in a single coregulator, PCBP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

E2F4/5 and p107 as Smad cofactors linking the TGFbeta receptor to c-myc repression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Overlapping and unique roles for C-terminal binding protein 1 (CtBP1) and CtBP2 during mouse development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

The incidence of congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Congenital heart disease caused by mutations in the transcription factor NKX2-5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Smad2 signaling in extraembryonic tissues determines anterior-posterior polarity of the early mouse embryo

1 reference

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21 June 2018

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

21 June 2018

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

1 reference

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25 November 2018

A subterminal deletion of the long arm of chromosome 10: a clinical report and review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209190

25 November 2018

Associations between chromosomal anomalies and congenital heart defects: a database search.

1 reference

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25 November 2018

Synergistic transcriptional activation of the tissue inhibitor of metalloproteinases-1 promoter via functional interaction of AP-1 and Ets-1 transcription factors

1 reference

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25 November 2018

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25205790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modification of DNA topoisomerase II activity via direct interactions with the cyclic adenosine-3',5'-monophosphate response element-binding protein and related transcription factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/25205790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/25205790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25205790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25205790

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCRESAHA.115.304458

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

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