PhenCards: a data resource linking human phenotype information to biomedical knowledge

por Havrilla, James M., Liu, Cong, Dong, Xiangchen, Weng, Chunhua, Wang, Kai
Publicado 2021

Coexpression patterns define epigenetic regulators associated with neurological dysfunction

por Boukas, Leandros, Havrilla, James M., Hickey, Peter F., Quinlan, Aaron R., Bjornsson, Hans T., Hansen, Kasper D.
Publicado 2019

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

por Havrilla, James M., Singaravelu, Anbumalar, Driscoll, Dennis M., Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R.
Publicado 2022

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

por Zhao, Mengge, Havrilla, James M, Fang, Li, Chen, Ying, Peng, Jacqueline, Liu, Cong, Wu, Chao, Sarmady, Mahdi, Botas, Pablo, Isla, Julián, Lyon, Gholson J, Weng, Chunhua, Wang, Kai
Publicado 2020

SV-plaudit: A cloud-based framework for manually curating thousands of structural variants

por Belyeu, Jonathan R, Nicholas, Thomas J, Pedersen, Brent S, Sasani, Thomas A, Havrilla, James M, Kravitz, Stephanie N, Conway, Megan E, Lohman, Brian K, Quinlan, Aaron R, Layer, Ryan M
Publicado 2018