(Q36266996)

13 August 2017

Paralogous annotation of disease-causing variants in long QT syndrome genes (English)

1 reference

13 August 2017

1 reference

3

1 reference

13 August 2017

4

1 reference

13 August 2017

Roddy Walsh

2

0 references

James Ware

object named as

James S Ware

series ordinal

1

0 references

author name string

Stuart A Cook

series ordinal

5

1 reference

13 August 2017

7 June 2012

1 reference

13 August 2017

1 reference

13 August 2017

33

1 reference

13 August 2017

8

1 reference

13 August 2017

1188-1191

1 reference

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

IUPHAR-DB: new receptors and tools for easy searching and visualization of pharmacological data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Identification of a Kir3.4 mutation in congenital long QT syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Genetics and cardiac channelopathies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

The genetic basis of long QT and short QT syndromes: a mutation update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

M-Coffee: combining multiple sequence alignment methods with T-Coffee

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

dbSNP: the NCBI database of genetic variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Basic local alignment search tool

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640174

Human Gene Mutation Database (HGMD): 2003 update

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22114

21 January 2018

Identifiers

DOI

10.1002/HUMU.22114

1 reference

13 August 2017

1 reference

PMC publication ID

4640174

13 August 2017

PubMed publication ID

22581653

1 reference

PMC publication ID

4640174