Cynthia L. Smith

Jackson Laboratory — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

40h-index14.4kcitations112works34.42yr avg
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Research Topics

Biomedical Text Mining and Ontologies(47), Bioinformatics and Genomic Networks(37), Genomics and Rare Diseases(17), Gene expression and cancer classification(11), Genomics and Phylogenetic Studies(9)

Publications110 total

Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
PLoS Genetics·2025Open Access
Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery
Disease Models & Mechanisms·2025· 1 citedOpen Access
A compendium of human gene functions derived from evolutionary modelling
Nature·2025· 26 citedOpen Access
Correction: Functional and structural segregation of overlapping helices in HIV-1
eLife·2025Open Access
The informatics of developmental phenotypes
Elsevier eBooks·2024
Improving laboratory animal genetic reporting: LAG-R guidelines
Nature Communications·2024· 15 citedOpen Access
Updates to the Alliance of Genome Resources central infrastructure
Genetics·2024· 54 citedOpen Access
Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse
Genetics·2024· 179 citedOpen Access
Updates to the Alliance of Genome Resources Central Infrastructure Alliance of Genome Resources Consortium
2023· 3 citedOpen Access
Biochemical pathways represented by Gene Ontology-Causal Activity Models identify distinct phenotypes resulting from mutations in pathways
Genetics·2023· 2 citedOpen Access
Biochemical Pathways Represented by Gene Ontology Causal Activity Models Identify Distinct Phenotypes Resulting from Mutations in Pathways
2023Open Access
The Gene Ontology knowledgebase in 2023
Genetics·2023· 2.5k citedOpen Access
The case for standardizing gene nomenclature in vertebrates
Nature·2023· 10 citedOpen Access
Functional and structural segregation of overlapping helices in HIV-1
eLife·2022· 13 citedOpen Access
The Case for Standardising Gene Nomenclature Across Vertebrates
Preprints.org·2022· 1 citedOpen Access
Author response: Functional and structural segregation of overlapping helices in HIV-1
2022Open Access
Harmonizing model organism data in the Alliance of Genome Resources
Genetics·2022· 94 citedOpen Access
Updating and expanding inferred disease and phenotype annotations at Mouse Genome Informatics
Faculty of 1000 Research Ltd·2022Open Access
Decolonizing Neverland: How Native Voices Are Reimagining Books for Young Readers
World Literature Today·2022
Mouse Genome Informatics (MGI): latest news from MGD and GXD
Mammalian Genome·2021· 60 citedOpen Access
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Frequent Co-authors

Janan T. Eppig(13), Joel E. Richardson(13), Chris Mungall(12), Judith A. Blake(12), Susan M. Bello(11), Carol J. Bult(11), James A. Kadin(10), Stanley J. F. Laulederkind(8), David P. Hill(7), Karen Christie(7), M. Eileen Dolan(7), Peter N. Robinson(7), Suzi Aleksander(6), J. Michael Cherry(6), Harold Drabkin(6), Sierra Moxon(6), Lori E Corbani(6), Stacia R. Engel(6), Sebastian Köhler(6), Paul N. Schofield(6)