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American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.CEUR Workshop Proceedings|June 16, 2023
A community effort for COVID-19 Ontology HarmonizationAsiyah Yu Lin, Yuki Yamagata, William D Duncan, et al.Bioorganic & Medicinal Chemistry Letters|October 25, 2011
Identification of small-molecule inhibitors of Trypansoma cruzi replicationAndrew R Germain, Leigh C Carmody, Chris Dockendorff, et al.Bioorganic & Medicinal Chemistry Letters|February 14, 2013
Cinnamides as selective small-molecule inhibitors of a cellular model of breast cancer stem cellsAndrew R Germain, Leigh C Carmody, Partha P Nag, et al.American Journal of Human Genetics|August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio ParadigmPeter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.Bioinformatics Advances|July 7, 2025
Leveraging generative AI to assist biocuration of medical actions for rare diseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.Bioorganic & Medicinal Chemistry Letters|April 17, 2012
Identification of a selective small molecule inhibitor of breast cancer stem cellsAndrew R Germain, Leigh C Carmody, Barbara Morgan, et al.Plos One|May 17, 2023
Phenopacket-tools: Building and validating GA4GH PhenopacketsDaniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.Pageof 4