The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
2018 · Conservation Genetics · 132 citations
https://doi.org/10.1007/s10592-018-1072-9
P
Pilar Cacheiro
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Pilar Cacheiro is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Genomics and Rare Diseases & Biomedical Text Mining and Ontologies & Genomic variations and chromosomal abnormalities. The author has an h-index of 13, co-authored 40 publications.
ORCID: 0000-0002-6335-8208Papers by this author
worksNew models for human disease from the International Mouse Phenotyping Consortium
2019 · Mammalian Genome · 66 citations
https://doi.org/10.1007/s00335-019-09804-5
Medical genomics: The intricate path from genetic variant identification to clinical interpretation
2014 · Applied & Translational Genomics · 37 citations
https://doi.org/10.1016/j.atg.2014.06.001
MorPhiC Consortium: towards functional characterization of all human genes
2025 · Nature · 12 citations
https://doi.org/10.1038/s41586-024-08243-w
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
2024 · Human Genetics and Genomics Advances · 11 citations
https://doi.org/10.1016/j.xhgg.2024.100371
Computational identification of disease models through cross-species phenotype comparison
2024 · Disease Models & Mechanisms · 9 citations
https://doi.org/10.1242/dmm.050604
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