The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. - Jose Lugo-Martinez; Vikas Pejaver; Kymberleigh A. Pagel; Shantanu Jain; Matthew E. Mort; David N. Cooper; Sean D. Mooney; Predrag Radivojac (PLoS Comput. Biol., 2016)

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. - Kymberleigh A. Pagel; Vikas Pejaver; Guan Ning Lin; Hyun-Jun Nam; Matthew E. Mort; David N. Cooper; Jonathan Sebat; Lilia M. Iakoucheva; Sean D. Mooney; Predrag Radivojac (Bioinform., 2017)

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. - Kymberleigh A. Pagel; Danny Antaki; Aojie Lian; Matthew E. Mort; David N. Cooper; Jonathan Sebat; Lilia M. Iakoucheva; Sean D. Mooney; Predrag Radivojac (PLoS Comput. Biol., 2019)