Integrated Informatics Analysis of Cancer-Related Variants

por Pagel, Kymberleigh A., Kim, Rick, Moad, Kyle, Busby, Ben, Zheng, Lily, Tokheim, Collin, Ryan, Michael, Karchin, Rachel
Publicado 2020

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

por Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David N., Mooney, Sean D., Radivojac, Predrag
Publicado 2016

The sequencing and interpretation of the genome obtained from a Serbian individual

por Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David N., Hahn, Matthew W., Radivojac, Predrag
Publicado 2018

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

por Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publicado 2019

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

por Pagel, Kymberleigh A, Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N, Sebat, Jonathan, Iakoucheva, Lilia M, Mooney, Sean D, Radivojac, Predrag
Publicado 2017

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

por Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publicado 2020

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

por Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E.
Publicado 2022

Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women

por Pagel, Kymberleigh A., Chu, Hoyin, Ramola, Rashika, Guerrero, Rafael F., Chung, Judith H., Parry, Samuel, Reddy, Uma M., Silver, Robert M., Steller, Jonathan G., Yee, Lynn M., Wapner, Ronald J., Hahn, Matthew W., Natarajan, Sriraam, Haas, David M., Radivojac, Predrag
Publicado 2022