(Q36522616)

14 August 2017

6 references

19 June 2019

30 June 2019

17 June 2019

14 September 2019

19 September 2019

23 July 2020

Heuristic methods for finding pathogenic variants in gene coding sequences (English)

1 reference

biomedical investigative technique

14 August 2017

7 references

19 June 2019

30 June 2019

17 June 2019

14 September 2019

19 September 2019

23 July 2020

10 September 2020

1 reference

14 September 2019

1 reference

genetic predisposition to disease

19 September 2019

1 reference

23 July 2020

Monique Ohanian

1

1 reference

14 August 2017

Robyn Otway

series ordinal

2

1 reference

14 August 2017

Diane Fatkin

series ordinal

3

1 reference

14 August 2017

25 October 2012

1 reference

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease

14 August 2017

1 October 2012

6 references

19 June 2019

30 June 2019

17 June 2019

14 September 2019

19 September 2019

23 July 2020

8 references

14 August 2017

19 June 2019

30 June 2019

17 June 2019

14 September 2019

19 September 2019

23 July 2020

10 September 2020

1

1 reference

14 August 2017

5

1 reference

14 August 2017

e002642

1 reference

Creative Commons Attribution 2.5 Generic

14 August 2017

6 references

19 June 2019

30 June 2019

17 June 2019

14 September 2019

19 September 2019

on focus list of Wikimedia project

23 July 2020

ScienceSource

0 references

cites work

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Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk

30 September 2017

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30 September 2017

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The functional spectrum of low-frequency coding variation

30 September 2017

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

30 September 2017

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Annotating individual human genomes

30 September 2017

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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

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

30 September 2017

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A probabilistic disease-gene finder for personal genomes.

30 September 2017

1 reference

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Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

30 September 2017

1 reference

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A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

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Adrenergic signaling polymorphisms and their impact on cardiovascular disease

30 September 2017

1 reference

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Limits of sequence and functional conservation

30 September 2017

1 reference

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Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase

30 September 2017

1 reference

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Clinical assessment incorporating a personal genome

30 September 2017

1 reference

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Parallelization of the MAFFT multiple sequence alignment program

30 September 2017

1 reference

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Genetic heterogeneity in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

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=3541611

PANTHER version 7: improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

The Pfam protein families database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Finding the missing heritability of complex diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Automated inference of molecular mechanisms of disease from amino acid substitutions.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Identification of deleterious mutations within three human genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

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=3541611

Functional annotations improve the predictive score of human disease-related mutations in proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Next generation tools for the annotation of human SNPs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

In silico analysis of missense substitutions using sequence-alignment based methods

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with 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=3541611

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Clustal W and Clustal X version 2.0

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

A statistical score for assessing the quality of multiple sequence alignments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

The accuracy of several multiple sequence alignment programs for proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

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=3541611

SNPs3D: candidate gene and SNP selection for association studies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

MUSCLE: multiple sequence alignment with high accuracy and high throughput

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Single-nucleotide mutations for plant functional genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

PANTHER: a library of protein families and subfamilies indexed by function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Angiotensinogen gene polymorphism, plasma angiotensinogen, and risk of hypertension and ischemic heart disease: a meta-analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

KCNQ1 gain-of-function mutation in familial atrial fibrillation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Accounting for human polymorphisms predicted to affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Predicting deleterious amino acid substitutions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

A mouse model of familial hypertrophic cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

PROMALS web server for accurate multiple protein sequence alignments

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Mind the gaps: evidence of bias in estimates of multiple sequence alignments.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Identification and analysis of deleterious human SNPs.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Atrial fibrillation-associated minK38G/S polymorphism modulates delayed rectifier current and membrane localization.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Inherited Cardiomyopathies

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

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

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3541611

Performance of mutation pathogenicity prediction methods on missense variants

4 December 2018

1 reference

12 December 2020

Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction

1 reference

12 December 2020

Sequence-based prediction of pathological mutations

1 reference

12 December 2020

Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?

1 reference

12 December 2020

The changes of the cardiac structure and function in cTnTR141W transgenic mice

1 reference

12 December 2020

Identifiers

DOI

10.1161/JAHA.112.002642

1 reference

14 August 2017

1 reference

14 August 2017

1 reference