(Q36592201)

15 August 2017

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records (English)

1 reference

15 August 2017

9

Gail P Jarvik

0 references

William S Bush

William S Bush

4

0 references

Erwin Böttinger

19

Erwin Bottinger

1 reference

15 August 2017

43

Marylyn D Ritchie

1 reference

15 August 2017

14

Janet E Olson

1 reference

15 August 2017

Teri A Manolio

36

0 references

Hakon Hakonarson

23

Hakon Hakonarson

1 reference

15 August 2017

44

Joshua C Denny

1 reference

15 August 2017

6

Deborah A Nickerson

1 reference

15 August 2017

Laura J Rasmussen-Torvik

24

Laura J Rasmussen-Torvik

1 reference

15 August 2017

42

Michael J Ackerman

1 reference

15 August 2017

45

Dan M Roden

1 reference

15 August 2017

39

Marc S Williams

1 reference

15 August 2017

18

Stuart A Scott

1 reference

15 August 2017

28

Rex L Chisholm

1 reference

15 August 2017

8

David R Crosslin

1 reference

15 August 2017

16

Iftikhar J Kullo

1 reference

15 August 2017

13

Suzette J Bielinski

1 reference

15 August 2017

1

Sara L Van Driest

1 reference

15 August 2017

2

Quinn S Wells

1 reference

15 August 2017

3

Sarah Stallings

1 reference

15 August 2017

10

David S Carrell

1 reference

15 August 2017

11

James D Ralston

1 reference

15 August 2017

20

Berta Almoguera

1 reference

15 August 2017

29

Terrie E Kitchner

1 reference

15 August 2017

31

Murray H Brilliant

1 reference

15 August 2017

33

Kimberly F Doheny

1 reference

15 August 2017

Adam Gordon

5

1 reference

15 August 2017

Jerry H Kim

7

1 reference

15 August 2017

Eric B Larson

12

1 reference

15 August 2017

Zi Ye

15

1 reference

15 August 2017

Noura S Abul-Husn

17

1 reference

15 August 2017

John Connolly

21

1 reference

15 August 2017

Rosetta Chiavacci

22

1 reference

15 August 2017

Vivian Pan

25

1 reference

15 August 2017

Stephen D Persell

26

1 reference

15 August 2017

Maureen Smith

27

1 reference

15 August 2017

Max M He

30

1 reference

15 August 2017

John R Wallace

32

1 reference

15 August 2017

M Benjamin Shoemaker

34

1 reference

15 August 2017

Rongling Li

35

1 reference

15 August 2017

Thomas E Callis

37

1 reference

15 August 2017

Daniela Macaya

38

1 reference

15 August 2017

David Carey

40

1 reference

15 August 2017

Jamie D Kapplinger

41

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 January 2016

1 reference

The Journal of the American Medical Association

15 August 2017

1 reference

15 August 2017

315

1 reference

15 August 2017

1

1 reference

15 August 2017

47-57

1 reference

PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

ClinGen--the Clinical Genome Resource

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

UniProt: a hub for protein information

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Guidelines for investigating causality of sequence variants in human 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=4758131

ClinVar: public archive of relationships among sequence variation and human phenotype

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Interpreting secondary cardiac disease variants in an exome cohort

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Impact of genetics on the clinical management of channelopathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

New approaches to molecular diagnosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Chapter 13: Mining electronic health records in the genomics era.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Exploring concordance and discordance for return of incidental findings from clinical sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

The legal risks of returning results of genomics research

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Prevalence of the congenital long-QT 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=4758131

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT 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=4758131

Prevalence of a Brugada pattern electrocardiogram in an urban population in the United States

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Electronic health records-driven phenotyping: challenges, recent advances, and perspectives

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Incidental findings in clinical genomics: a clarification

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs?

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Cost-effectiveness of neonatal ECG screening for the long QT syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4758131

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26746457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26746457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/26746457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMA.2015.17701

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

26746457

1 reference