Josep Saüch-Pitarch
Molecular Biology · 2019
A researcher in the Science corpus: 1 paper; trusts 2 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Molecular Biology — 15 citations into it
- Genetics — 13 citations into it
Whom Josep Saüch-Pitarch trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Josep Saüch-Pitarch's perspective
Ordered by how strongly the researchers Josep Saüch-Pitarch trusts endorse each paper. Same corpus, a different order for every researcher.
- Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users (Human Mutation)
- The Ensembl Variant Effect Predictor
- ClinGen--the Clinical Genome Resource. (New England Journal of Medicine)
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources (Nucleic Acids Res.)
- OMIM.org: leveraging knowledge across phenotype–gene relationships (Nucleic Acids Res.)
- WikiPathways: a multifaceted pathway database bridging metabolomics to other omics research (Nucleic Acids Res.)
- ClinVar: improving access to variant interpretations and supporting evidence
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 (Nucleic Acids Res.)
- DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes (Database J. Biol. Databases Curation)
- Human Disease Ontology 2018 update: classification, content and workflow expansion (Nucleic Acids Res.)
Their papers
- The DisGeNET knowledge platform for disease genomics: 2019 update (2019) — 2,560 citations