Peter E. M. Taschner
Genetics · 2000–2016
A researcher in the Science corpus: 5 papers; trusts 2 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 16 citations into it
Whom Peter E. M. Taschner trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Peter E. M. Taschner's perspective
Ordered by how strongly the researchers Peter E. M. Taschner trusts endorse each paper. Same corpus, a different order for every researcher.
- dbSNP: the NCBI database of genetic variation
- Ensembl’s 10th year (Nucleic Acids Res.)
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
- The human genome browser at UCSC.
- Human Gene Mutation Database (HGMD®): 2003 update
- Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular…
- Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (Human Mutation)
- HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server (Human Mutation)
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations
- The Cancer Genome Atlas Pan-Cancer Analysis Project
Their papers
- LOVD v.2.0: the next generation in gene variant databases (2011) — 1,011 citations
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update (2016) — 1,645 citations
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (2000) — 1,720 citations
- Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (2008) — 417 citations
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015) — 453 citations