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Jim Havrilla
Jim Havrilla
Pathnostics
Verified email at email.chop.edu - Homepage
Title
Cited by
Cited by
Year
A map of constrained coding regions in the human genome.
JM Havrilla, BS Pedersen, RM Layer, AR Quinlan
Nature Genetics 51 (1), 88, 2019
2422019
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
JM Havrilla, M Zhao, L Fang, Y Chen, J Peng, C Liu, C Wu, M Sarmady, ...
NAR genomics and bioinformatics 2 (2), lqaa032, 2020
562020
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
L Boukas, JM Havrilla, PF Hickey, AR Quinlan, HT Bjornsson, KD Hansen
Genome Research 29 (4), 532-542, 2019
432019
SV-plaudit: a cloud-based framework for manually curating thousands of structural variants
JR Belyeu, TJ Nicholas, BS Pedersen, TA Sasani, JM Havrilla, SN Kravitz, ...
Gigascience 7 (7), giy064, 2018
362018
Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder
J Peng, M Zhao, J Havrilla, C Liu, C Weng, W Guthrie, R Schultz, K Wang, ...
BMC Medical Informatics and Decision Making 20, 1-9, 2020
232020
Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records
M Zhao, J Havrilla, J Peng, M Drye, M Fecher, W Guthrie, B Tunc, ...
Journal of Neurodevelopmental Disorders 14 (1), 32, 2022
92022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
JM Havrilla, A Singaravelu, DM Driscoll, L Minkovsky, I Helbig, L Medne, ...
BMC Medical Informatics and Decision Making 22 (Suppl 2), 198, 2022
72022
Clinical phenotypic spectrum of 4095 individuals with down syndrome from text mining of electronic health records
JM Havrilla, M Zhao, C Liu, C Weng, I Helbig, E Bhoj, K Wang
Genes 12 (8), 1159, 2021
72021
PhenCards: a data resource linking human phenotype information to biomedical knowledge
JM Havrilla, C Liu, X Dong, C Weng, K Wang
Genome Medicine 13 (91), 2021
52021
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates
AM Mc Cartney, M Mahmoud, M Jochum, DP Agustinho, B Zorman, ...
F1000Research 10, 2021
42021
Meta-analysis of protein structural alignment
J Havrilla, A Sacan
2012 IEEE International Conference on Bioinformatics and Biomedicine …, 2012
32012
OARD: Open annotations for rare diseases and their phenotypes based on real-world data
C Liu, CN Ta, JM Havrilla, JG Nestor, ME Spotnitz, AS Geneslaw, Y Hu, ...
The American Journal of Human Genetics 109 (9), 1591-1604, 2022
22022
Termviewer–A Web Application for Streamlined Human Phenotype Ontology (HPO) Tagging and Document Annotation
A Nixon, L Fang, K Wang, JM Havrilla
Chemistry & Biodiversity, e202200805, 2022
12022
Revealing Regional Constraint and Assisting Variant Interpretation in the Human Genome
JM Havrilla
The University of Utah, 2019
2019
Pathoscore: a tool for unbiased evaluation of variant pathogenicity scores
JM Havrilla, BS Pedersen, RM Layer, EJ Hernandez, M Yandell, ...
F1000Research 7, 2018
2018
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