An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

by Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell
Published 2017-10-01

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

by Jose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, Shantanu Jain, Matthew Mort, David N Cooper, Sean D Mooney, Predrag Radivojac
Published 2016-08-01

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

by Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, Simo V Zhang, Sofia Casasa, Matthew Mort, David N Cooper, Matthew W Hahn, Predrag Radivojac
Published 2018-01-01

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

by Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac
Published 2019-06-01

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Published 2018-10-01

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

by Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, Kymberleigh A. Pagel, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N. Cooper, Jonathan Sebat, Lilia M. Iakoucheva, Sean D. Mooney, Predrag Radivojac
Published 2020-11-01

RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

by Hai Lin, Katherine A. Hargreaves, Rudong Li, Jill L. Reiter, Yue Wang, Matthew Mort, David N. Cooper, Yaoqi Zhou, Chi Zhang, Michael T. Eadon, M. Eileen Dolan, Joseph Ipe, Todd C. Skaar, Yunlong Liu
Published 2019-11-01

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

by Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D Stenson, David N Cooper, Steven M Lipkin, Marcus B Smolka, Haiyuan Yu
Published 2014-12-01

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

by Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Published 2019-09-01