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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Human genetics, 2017-06, Vol.136 (6), p.665-677

2017

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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Human genetics, 2020-10, Vol.139 (10), p.1197-1207

2020

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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

Human genetics, 2014-01, Vol.133 (1), p.1-9

2014

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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

American journal of human genetics, 2012-12, Vol.91 (6), p.1022-1032

2012

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The Human Gene Mutation Database: 2008 update

Genome medicine, 2009-01, Vol.1 (1), p.13-13, Article 13

2009

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

Human mutation, 2010-06, Vol.31 (6), p.631-655

2010

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The functional spectrum of low-frequency coding variation

Genome biology, 2011-09, Vol.12 (9), p.R84-R84, Article R84

2011

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Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Human genomics, 2010-08, Vol.4 (6), p.406-410

2010

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The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution

Current Protocols in Bioinformatics, 2012-09, Vol.39 (1), p.1.13.1-1.13.20

2012

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

Human genomics, 2009-12, Vol.4 (2), p.69-72

2009

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Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

Human mutation, 2003-09, Vol.22 (3), p.229-244

2003

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Guanine holes are prominent targets for mutation in cancer and inherited disease

PLoS genetics, 2013-09, Vol.9 (9), p.e1003816

2013

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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

Human mutation, 2005-09, Vol.26 (3), p.205-213

2005

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MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Genome biology, 2014-01, Vol.15 (1), p.R19-R19, Article R19

2014

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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections

Human genetics, 2023-02, Vol.142 (2), p.245-274

2023

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Distinct sequence features underlie microdeletions and gross deletions in the human genome

Human mutation, 2022-03, Vol.43 (3), p.328-346

2022

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Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

Human mutation, 2003-01, Vol.21 (1), p.28-44

2003

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Human Gene Mutation Database (HGMD®): 2003 update

Human mutation, 2003-06, Vol.21 (6), p.577-581

2003

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Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

Human mutation, 2010-12, Vol.31 (12), p.1286-1293

2010

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Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Human genomics, 2011-07, Vol.5 (5), p.453-484

2011

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Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Human mutation, 2011-10, Vol.32 (10), p.1137-1143

2011

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Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes

American journal of human genetics, 1998-08, Vol.63 (2), p.474-488

1998

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Human Gene Mutation Database-A biomedical information and research resource

Human mutation, 2000-01, Vol.15 (1), p.45-51

2000

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Chromosomal distribution of disease genes in the human genome

Genetic testing and molecular biomarkers, 2010-08, Vol.14 (4), p.441-446

2010

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

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

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

The Human Gene Mutation Database: 2008 update

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

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

The functional spectrum of low-frequency coding variation

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution

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

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

Guanine holes are prominent targets for mutation in cancer and inherited disease

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections

Distinct sequence features underlie microdeletions and gross deletions in the human genome

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

Human Gene Mutation Database (HGMD®): 2003 update

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes

Human Gene Mutation Database-A biomedical information and research resource

Chromosomal distribution of disease genes in the human genome

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