Published in J Med Genet on April 01, 2007
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics (2009) 3.24
Sharing data between LSDBs and central repositories. Hum Mutat (2009) 1.57
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
Collection of variation causing disease--the Human Variome Project. Hum Genomics (2009) 1.10
Prediction of disease-related mutations affecting protein localization. BMC Genomics (2009) 0.86
Connecting the Human Variome Project to nutrigenomics. Genes Nutr (2010) 0.75
A comprehensive global genotype-phenotype database for rare diseases. Mol Genet Genomic Med (2016) 0.75
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res (2002) 1.95
The HUGO Mutation Database Initiative. Science (1998) 1.95
Science's neglected legacy. Nature (2000) 1.77
DNA, diseases and databases: disastrously deficient. Trends Genet (2005) 1.50
WayStation to HUGOBase. Nat Genet (2005) 1.13
Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat (2000) 1.03
Core database. Nature (1995) 0.98
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress. Hum Mutat (2000) 0.95
A database of locus-specific databases. Nat Genet (2007) 3.83
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res (2002) 1.95
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Sharing data between LSDBs and central repositories. Hum Mutat (2009) 1.57
Reducing the burden of inherited disease: the Human Variome Project. Med J Aust (2010) 1.42
Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics (2006) 1.40
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat (2003) 1.37
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Guidelines for establishing locus specific databases. Hum Mutat (2011) 1.16
The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat (2004) 1.15
Collection of variation causing disease--the Human Variome Project. Hum Genomics (2009) 1.10
Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med (2011) 1.04
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat (2011) 0.99
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat (2013) 0.95
Initiating a Human Variome Project Country Node. Hum Mutat (2011) 0.90
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol (2013) 0.89
Site-selective reactions of imperfectly matched DNA with small chemical molecules: applications in mutation detection. Bioorg Chem (2002) 0.87
Quality and consistency of guidelines for the management of mild traumatic brain injury in the emergency department. Acad Emerg Med (2011) 0.86
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards". Hum Mutat (2010) 0.85
Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat (2012) 0.83
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Ophthalmic Genet (2006) 0.83
Permanganate oxidation reactions of DNA: perspective in biological studies. Nucleosides Nucleotides Nucleic Acids (2003) 0.83
Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex. Brain Res Mol Brain Res (2004) 0.81
Early hippocampal oxidative stress is a direct consequence of seizures in the rapid electrical amygdala kindling model. Epilepsy Res (2010) 0.79
Spectroscopic study of permanganate oxidation reactions of oligonucleotides containing single base mismatches. Biopolymers (2003) 0.78
Genetic tests need the Human Variome Project. Genet Test Mol Biomarkers (2011) 0.78
UV-visible spectral identification of the solution-phase and solid-phase permanganate oxidation reactions of thymine acetic acid. Bioorg Med Chem Lett (2004) 0.78
Alternative transcripts of presenilin-1 associated with frontotemporal dementia. Neuroreport (2002) 0.78
Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLC. Biotechniques (2003) 0.78
Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning. Nucleic Acids Res (2006) 0.78
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution. Hum Genomics (2011) 0.77
Comparative study of permanganate oxidation reactions of nucleotide bases by spectroscopy. Bioorg Chem (2002) 0.77
Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics (2011) 0.77
The WayStation: the novel way for the collection of pancreatitis-associated mutations. Pancreatology (2004) 0.76
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain. Hum Mutat (2014) 0.76
Alternative transcripts of presenilin-1 associated with frontotemporal dementia. Neuroreport (2002) 0.76
Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet (2011) 0.75
The Human Variome Project Beijing meeting. J Med Genet (2012) 0.75
Human mutation databases. Hum Genomics (2006) 0.75
VariVis: a visualisation toolkit for variation databases. BMC Bioinformatics (2008) 0.75
Rare disease registries and mutation/variation databases. Hum Mutat (2011) 0.75
Communicating "mutation:" Modern meanings and connotations. Hum Mutat (2002) 0.75
Response to Stenson et al. in human genomics vol. 4, No. 2, pp. 69-72: 'The human gene mutation database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics'. Hum Genomics (2010) 0.75
On genomic DNA paradigms, research publications, and scholarly inquiry. Hum Mutat (2010) 0.75
Detection of mutations in DNA by solid-phase chemical cleavage method. A simplified assay. Methods Mol Biol (2003) 0.75
Mismatch oxidation assay: detection of DNA mutations using a standard UV/Vis microplate reader. Methods Mol Biol (2009) 0.75
A call for mutations. Genet Med (2005) 0.75
Database overkill. Hum Mutat (2010) 0.75
In memoriam: Victor A. McKusick (1921-2008). Hum Mutat (2008) 0.75
Sheep welfare campaign. Vet Rec (2003) 0.75
Mutation detection by solid-phase chemical cleavage of mismatches using radioactive probes. CSH Protoc (2006) 0.75
Help needed to stamp out sheep scab. Vet Rec (2013) 0.75
Human mutation databases. Curr Protoc Bioinformatics (2005) 0.75
Human mutation databases. Curr Protoc Hum Genet (2005) 0.75
The chemical cleavage of mismatch for the detection of mutations in long DNA fragments. Methods Mol Biol (2009) 0.75
Spontaneous DNA-DNA interaction of homologous duplexes and factors affecting the result of heteroduplex formation. Biol Chem (2006) 0.75
Mutations causing inherited disease and cancer affect individuals and families. Genet Med (2006) 0.75