(Q34374148)

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

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

6 references

20 June 2019

30 June 2019

14 September 2019

25 September 2020

30 April 2021

18 July 2021

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

1 reference

Europe PubMed Central

1 August 2017

0 references

0 references

genetic variation

1 reference

14 September 2019

germline mutation

1 reference

25 September 2020

1 reference

30 April 2021

1 reference

18 July 2021

David N. Cooper

6

1 reference

Europe PubMed Central

1 August 2017

2

object named as

Matthew Mort

1 reference

Europe PubMed Central

1 August 2017

author name string

Peter D Stenson

1

1 reference

Europe PubMed Central

1 August 2017

Edward V Ball

3

1 reference

Europe PubMed Central

1 August 2017

Katy Shaw

4

1 reference

Europe PubMed Central

1 August 2017

Andrew Phillips

5

1 reference

Europe PubMed Central

1 August 2017

publication date

1 January 2014

7 references

Europe PubMed Central

1 August 2017

20 June 2019

30 June 2019

14 September 2019

25 September 2020

30 April 2021

18 July 2021

7 references

Europe PubMed Central

1 August 2017

20 June 2019

30 June 2019

14 September 2019

25 September 2020

30 April 2021

18 July 2021

133

1 reference

Europe PubMed Central

1 August 2017

1-9

1 reference

Europe PubMed Central

1 August 2017

1

1 reference

Europe PubMed Central

1 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

2 references

Europe PubMed Central

30 April 2021

Europe PubMed Central

18 July 2021

copyright status

0 references

https://scigraph.springernature.com/pub.10.1007/s00439-013-1358-4

0 references

Using exome data to identify malignant hyperthermia susceptibility mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Towards precision medicine: advances in computational approaches for the analysis of human variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Interpreting secondary cardiac disease variants in an exome cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Identifying Mendelian disease genes with the variant effect scoring tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle

1 reference

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6 July 2018

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

1 reference

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6 July 2018

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

CRAVAT: cancer-related analysis of variants toolkit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

The UCSC Genome Browser database: extensions and updates 2013.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Predicting the functional effect of amino acid substitutions and indels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

SIFT web server: predicting effects of amino acid substitutions on proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Insights into hominid evolution from the gorilla genome sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

A combined functional annotation score for non-synonymous variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Sequencing and analysis of an Irish human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Pharmacogenomics and bioinformatics: PharmGKB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Common regulatory variation impacts gene expression in a cell type-dependent manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

NCBI Reference Sequences: current status, policy and new initiatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

McKusick's Online Mendelian Inheritance in Man (OMIM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

An enhanced MITOMAP with a global mtDNA mutational phylogeny

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898141

6 July 2018

In vitro assays fail to predict in vivo effects of regulatory polymorphisms.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1358-4

21 January 2018

Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1358-4

21 January 2018

Identifiers

10.1007/S00439-013-1358-4

1 reference

Europe PubMed Central

1 August 2017

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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