Researcher profile · Semantic Scholar

James M. Havrilla

h-index: 9
Works: 19
Citations: 519

Most-cited papers

A map of constrained coding regions in the human genome
James M. Havrilla, Brent S. Pedersen, R. Layer, A. Quinlan
2017Nature Genetics226 citations Open access
Semantic Scholar
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
Mengge Zhao, James M. Havrilla, Li Fang, Ying Chen +9 more
2019bioRxiv92 citations Open access
Semantic Scholar
SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
Jonathan R. Belyeu, Thomas J. Nicholas, Brent S. Pedersen, T. Sasani +6 more
2018bioRxiv48 citations Open access
Semantic Scholar
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
Leandros Boukas, James M. Havrilla, P. Hickey, A. Quinlan +2 more
2018bioRxiv47 citations Open access
Semantic Scholar
Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder
Jacqueline Peng, Mengge Zhao, James M. Havrilla, Cong Liu +5 more
2020BMC Medical Informatics and Decision Making31 citations Open access
Semantic Scholar
Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records
Mengge Zhao, James M. Havrilla, Jacqueline Peng, M. Drye +6 more
2022Journal of Neurodevelopmental Disorders22 citations Open access
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PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
James M. Havrilla, Anbumalar Singaravelu, D. Driscoll, Leonard Minkovsky +5 more
2022BMC Medical Informatics and Decision Making16 citations Open access
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OARD: Open annotations for rare diseases and their phenotypes based on real-world data.
Cong Liu, Casey N. Ta, James M. Havrilla, J. Nestor +6 more
2022American Journal of Human Genetics13 citations Open access
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Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records
James M. Havrilla, Mengge Zhao, Cong Liu, Chun-Hua Weng +3 more
2021Genes13 citations Open access
Semantic Scholar
PhenCards: a data resource linking human phenotype information to biomedical knowledge
James M. Havrilla, Cong Liu, Xiang-Chen Dong, Chun-Hua Weng +1 more
2021Genome Medicine7 citations Open access
Semantic Scholar
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates
Ann M. Mc Cartney, M. Mahmoud, M. Jochum, D. Agustinho +58 more
2021F1000Research4 citations Open access
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Meta-analysis of protein structural alignment
James M. Havrilla, A. Sacan
20122012 IEEE International Conference on Bioinformatics and Biomedicine Workshops3 citations
Semantic Scholar
Termviewer – A Web Application for Streamlined Human Phenotype Ontology (HPO) Tagging and Document Annotation
Anna Nixon, Li Fang, James M. Havrilla, Kai Wang
2022Chemistry and Biodiversity1 citations
Semantic Scholar
PhenCards v.1.0.0 database
James M. Havrilla, Cong Liu, Xiang-Chen Dong, Chun-Hua Weng +1 more
20211 citations
Semantic Scholar
Pathoscore: a tool for unbiased evaluation of variant pathogenicity scores
James M. Havrilla, Brent S. Pedersen, R. Layer, E. Hernandez +2 more
20180 citations Open access
Semantic Scholar
lollipops: Custom data support and bug fixes
Jeremy J. Jay, James M. Havrilla
20160 citations
Semantic Scholar
lollipops: New legends, Uniprot mappings, Adobe fixes, friendlier errors.
Jeremy J. Jay, James M. Havrilla
20160 citations
Semantic Scholar
lollipops: Lollipops v1.1 - UniProt additions and stability improvements
Jeremy J. Jay, James M. Havrilla
20160 citations
Semantic Scholar
lollipops: Improved font rendering and domain labels
Jeremy J. Jay, James M. Havrilla
20160 citations
Semantic Scholar

×4

R. Layer×3

Kai Wang×3

Li Fang×2

W. Guthrie×2