(Q35232613)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

main subject

whole genome sequencing

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

James R Priest

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Scott R Ceresnak

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Frederick E Dewey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Lindsey E Malloy-Walton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kyla Dunn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Marco V Perez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Katsuhide Maeda

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Anne M Dubin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Euan A Ashley

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

25 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

11

1 reference

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21 March 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

1707-1713

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

Clinical interpretation and implications of whole-genome sequencing

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Genotype- and phenotype-guided management of congenital long QT syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Long QT syndrome-associated mutations in intrauterine fetal death

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Potential risks of pharmacy compounding

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Ethical and policy issues in genetic testing and screening of children

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

A novel mechanism for LQT3 with 2:1 block: a pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Recent progress in congenital long QT syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Common variants at ten loci influence QT interval duration in the QTGEN Study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Poisoning due to class 1B antiarrhythmic drugs. Lignocaine, mexiletine and tocainide

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

ACMG recommendations for reporting of incidental findings in clinical exome and genome 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=4379486

Database resources of the National Center for Biotechnology Information

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

The UCSC Genome Browser database: extensions and updates 2013.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Congenital long QT syndrome and 2:1 atrioventricular block: an optimistic outcome in the current era.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Mexiletine overdose producing status epilepticus without cardiovascular abnormalities.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Several common variants modulate heart rate, PR interval and QRS duration

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379486

Misdiagnosis of a mexiletine overdose because of a nonspecific result of urinary toxicologic screening

15 November 2018

1 reference

12 December 2020

Electrocardiographic Prediction of Abnormal Genotype in Congenital Long QT Syndrome: Experience in 101 Related Family Members

1 reference

12 December 2020

Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients

1 reference

12 December 2020

Accurately administering oral medication to children isn't child's play

1 reference

12 December 2020

10.1016/J.HRTHM.2014.06.030

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24973560%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24973560

1 reference