De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot (Q37353964)

19 August 2017

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

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19 August 2017

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13

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19 August 2017

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Stacey Gabriel

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19 August 2017

21

David A Hafler

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19 August 2017

20

Philip L De Jager

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19 August 2017

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Nancy A Shadick

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19 August 2017

19

Michael E Weinblatt

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19 August 2017

24

Christine E Seidman

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19 August 2017

11

Joshua M Gorham

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19 August 2017

4

Steven R DePalma

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19 August 2017

23

Jonathan G Seidman

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19 August 2017

1

Steven C Greenway

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19 August 2017

22

Roger E Breitbart

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19 August 2017

9

Joshua M Korn

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19 August 2017

10

Steven A McCarroll

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19 August 2017

17

Robert M Plenge

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19 August 2017

Alexandre C Pereira

2

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19 August 2017

Jennifer C Lin

3

1 reference

19 August 2017

Samuel J Israel

5

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19 August 2017

Sonia M Mesquita

6

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19 August 2017

Emel Ergul

7

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19 August 2017

Jessie H Conta

8

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19 August 2017

Maria de Lourdes Quintanilla-Dieck

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19 August 2017

Maria Alexandra Artunduaga

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19 August 2017

Roland D Eavey

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19 August 2017

language of work or name

English

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publication date

13 July 2009

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19 August 2017

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19 August 2017

41

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8

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19 August 2017

931-935

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Integrated detection and population-genetic analysis of SNPs and copy number variation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Large recurrent microdeletions associated with schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Rare chromosomal deletions and duplications increase risk of schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Strong association of de novo copy number mutations with sporadic schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Notch signaling in cardiac development

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

GATA4 sequence variants in patients with congenital heart disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Strong association of de novo copy number mutations with autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Global variation in copy number in the human genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

The validity of a rheumatoid arthritis medical records-based index of severity compared with the DAS28

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Germline KRAS mutations cause Noonan syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Diagnostic genome profiling in mental retardation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Mutations in NOTCH1 cause aortic valve disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Role of TBX1 in human del22q11.2 syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Epidemiology of cardiovascular malformations: prevalence and risk factors

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Clinical features of 78 adults with 22q11 Deletion Syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2747103

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiplex ligation-dependent probe amplification using a completely synthetic probe set

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.415

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19597493

1 reference