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Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Current Protocols in Bioinformatics|September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolutionPeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genetics|October 1, 2013
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicinePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Genetic Testing and Molecular Biomarkers|July 21, 2010
Chromosomal distribution of disease genes in the human genomeDavid N Cooper, Edward V Ball, Matthew Mort
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
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