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Human Mutation|November 15, 2007
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerMartin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, et al.Human Mutation|February 11, 2011
Describing structural changes by extending HGVS sequence variation nomenclaturePeter E M Taschner, Johan T den DunnenHuman Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M TaschnerBMC Bioinformatics|October 14, 2011
A formalized description of the standard human variant nomenclature in Extended Backus-Naur FormJeroen F J Laros, André Blavier, Johan T den Dunnen, et al.Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.Bioinformatics (Oxford, England)|February 4, 2021
Mutalyzer 2: next generation HGVS nomenclature checkerMihai Lefter, Jonathan K Vis, Martijn Vermaat, et al.Human Mutation|May 9, 2015
The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic IdentityJohan T den DunnenCurrent Protocols in Human Genetics|July 2, 2016
Sequence Variant Descriptions: HGVS Nomenclature and MutalyzerJohan T den DunnenMethods in Molecular Biology (Clifton, N.J.)|November 9, 2016
Describing Sequence Variants Using HGVS NomenclatureJohan T den DunnenPageof 22