In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity. - Imtiaz A. Khan; Matthew E. Mort; Paul R. Buckland; Michael C. O'Donovan; David N. Cooper; Nadia A. Chuzhanova (Silico Biol., 2006)

Gain and loss of phosphorylation sites in human cancer. - Predrag Radivojac; Peter H. Baenziger; Maricel G. Kann; Matthew E. Mort; Matthew W. Hahn; Sean D. Mooney (ECCB, 2008)

Automated inference of molecular mechanisms of disease from amino acid substitutions. - Biao Li; Vidhya G. Krishnan; Matthew E. Mort; Fuxiao Xin; Kishore K. Kamati; David N. Cooper; Sean D. Mooney; Predrag Radivojac (Bioinform., 2009)

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. - Mingxiang Teng; Shoji Ichikawa; Leah R. Padgett; Yadong Wang 001; Matthew E. Mort; David N. Cooper; Daniel L. Koller; Tatiana Foroud; Howard J. Edenberg; Michael J. Econs; Yunlong Liu (Bioinform., 2012)

Sequential data selection for predicting the pathogenic effects of sequence variation. - Mark F. Rogers; Colin Campbell; Hashem A. Shihab; Tom R. Gaunt; Matthew E. Mort; David N. Cooper (BIBM, 2015)

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. - Lukas Folkman; Yuedong Yang; Zhixiu Li; Bela Stantic; Abdul Sattar 001; Matthew E. Mort; David N. Cooper; Yunlong Liu; Yaoqi Zhou (Bioinform., 2015)

An integrative approach to predicting the functional effects of non-coding and coding sequence variation. - Hashem A. Shihab; Mark F. Rogers; Julian Gough; Matthew E. Mort; David N. Cooper; Ian N. M. Day; Tom R. Gaunt; Colin Campbell (Bioinform., 2015)

Mining clinical attributes of genomic variants through assisted literature curation in Egas. - Sérgio Matos; David Campos 001; Renato P. Pinho; Raquel M. Silva; Matthew E. Mort; David N. Cooper; José Luís Oliveira (Database J. Biol. Databases Curation, 2016)

Overview of the interactive task in BioCreative V. - Qinghua Wang 003; Shabbir Syed-Abdul; Lara Almeida; Sophia Ananiadou; Yalbi I. Balderas-Martínez; Riza Batista-Navarro; David Campos 001; Lucy Chilton; Hui-Jou Chou; Gabriela Contreras; Laurel Cooper; Hong-Jie Dai; et al. (Database J. Biol. Databases Curation, 2016)

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)

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. - Michael Ferlaino; Mark F. Rogers; Hashem A. Shihab; Matthew E. Mort; David N. Cooper; Tom R. Gaunt; Colin Campbell (BMC Bioinform., 2017)

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. - Mark F. Rogers; Hashem A. Shihab; Matthew E. Mort; David N. Cooper; Tom R. Gaunt; Colin Campbell (Bioinform., 2018)

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)