(Q30590291)

18 October 2017

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience (English)

1 reference

18 October 2017

0 references

Lauren Lawrence

1

1 reference

18 October 2017

Murat Sincan

2

1 reference

18 October 2017

Thomas Markello

3

1 reference

18 October 2017

David R Adams

4

1 reference

18 October 2017

Fred Gill

5

1 reference

18 October 2017

Rena Godfrey

6

1 reference

18 October 2017

Gretchen Golas

7

1 reference

18 October 2017

Catherine Groden

8

1 reference

18 October 2017

Dennis Landis

9

1 reference

18 October 2017

Michele Nehrebecky

10

1 reference

18 October 2017

Grace Park

11

1 reference

18 October 2017

Ariane Soldatos

12

1 reference

18 October 2017

Cynthia Tifft

13

1 reference

18 October 2017

Camilo Toro

14

1 reference

18 October 2017

Colleen Wahl

15

1 reference

18 October 2017

Lynne Wolfe

16

1 reference

18 October 2017

William A Gahl

17

1 reference

18 October 2017

Cornelius F Boerkoel

18

1 reference

18 October 2017

language of work or name

English

0 references

publication date

1 May 2014

1 reference

18 October 2017

1 reference

18 October 2017

16

1 reference

18 October 2017

10

1 reference

18 October 2017

741-750

1 reference

Actionable, pathogenic incidental findings in 1,000 participants' exomes

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Recommendations for returning genomic incidental findings? We need to talk!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Inferring causality and functional significance of human coding DNA variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Analysis of DNA sequence variants detected by high-throughput sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Accurate and comprehensive sequencing of personal genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

LOVD v.2.0: the next generation in gene variant databases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

A map of human genome variation from population-scale sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

High incidence of later-onset fabry disease revealed by newborn screening

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

A full-likelihood method for the evaluation of causality of sequence variants from family data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Hypertrophic cardiomyopathy: a systematic review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Missense mutations in disease genes: a Bayesian approach to evaluate causality

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.29

Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

High prevalence of familial defective apolipoprotein B-100 in Switzerland.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190001

Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype

26 November 2018

1 reference

12 December 2020

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

12 December 2020

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

1 reference

12 December 2020

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2014.29

1 reference

release_pabmqlmflrd3pcpza2pihlk24u

18 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pabmqlmflrd3pcpza2pihlk24u

24 November 2022

mapped directly with Wikidata item

1 reference

18 October 2017

1 reference