(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

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Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

1 August 2017

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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

PubMed publication ID

1 August 2017

2

object named as

Matthew Mort

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Peter D Stenson

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Edward V Ball

3

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Europe PubMed Central

PubMed publication ID

1 August 2017

Katy Shaw

4

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Europe PubMed Central

PubMed publication ID

1 August 2017

Andrew Phillips

5

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Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

1 January 2014

7 references

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

1 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1-9

1 reference

Europe PubMed Central

PubMed publication ID

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

Using exome data to identify malignant hyperthermia susceptibility mutations

1 reference

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

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6 July 2018

Interpreting secondary cardiac disease variants in an exome cohort

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

1 reference

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Identifying Mendelian disease genes with the variant effect scoring tool

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

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

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CRAVAT: cancer-related analysis of variants toolkit

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6 July 2018

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The UCSC Genome Browser database: extensions and updates 2013.

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6 July 2018

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

1 reference

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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

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6 July 2018

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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Insights into hominid evolution from the gorilla genome sequence

1 reference

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

1 reference

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

1 reference

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A combined functional annotation score for non-synonymous variants

1 reference

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

1 reference

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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

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The variant call format and VCFtools

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1 reference

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21 January 2018

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10.1007/S00439-013-1358-4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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