Peter Taschner
University of Applied Sciences Leiden
68 papers found
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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Download from api.wiley.comAn efficient algorithm for the extraction of HGVS variant descriptions from sequences
Download from academic.oup.comNovel CLN3 mutation causing autophagic vacuolar myopathy
Download from www.ncbi.nlm.nih.govRecommendations for Analyzing and ReportingTP53Gene Variants in the High-Throughput Sequencing Era
Download from www.researchgate.netPreserving sequence annotations across reference sequences
Download from dx.doi.orgIn search of triallelism in Bardet–Biedl syndrome
Download from www.nature.comVarioML framework for comprehensive variation data representation and exchange.
Download from link.springer.comCurating gene variant databases (LSDBs): toward a universal standard.
Download from onlinelibrary.wiley.comDescribing Structural Changes by Extending HGVS Sequence Variation Nomenclature
Download from onlinelibrary.wiley.comA formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
Download from dx.doi.orgLocus Reference Genomic sequences: an improved basis for describing human DNA variants
Download from dx.doi.orgDeep sequencing to reveal new variants in pooled DNA samples
UploadCaenorhabditis elegans as a model for lysosomal storage disorders
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