The human gene mutation database. - David N. Cooper; Edward V. Ball; Michael Krawczak (Nucleic Acids Res., 1998)

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)

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)

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. - Fuxiao Xin; Steven A. Myers; Yong Fuga Li; David N. Cooper; Sean D. Mooney; Predrag Radivojac (BMC Bioinform., 2010)

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)

CRAVAT: cancer-related analysis of variants toolkit. - Christopher Douville; Hannah Carter; Rick Kim; Noushin Niknafs; Mark Diekhans; Peter D. Stenson; David N. Cooper; Michael C. Ryan; Rachel Karchin (Bioinform., 2013)

Predicting the functional consequences of cancer-associated amino acid substitutions. - Hashem A. Shihab; Julian Gough; David N. Cooper; Ian N. M. Day; Tom R. Gaunt (Bioinform., 2013)

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing. - Yun-Ching Chen; Christopher Douville; Cheng Wang; Noushin Niknafs; Grace H. T. Yeo; Violeta Beleva Guthrie; Hannah Carter; Peter D. Stenson; David N. Cooper; Biao Li; Sean D. Mooney; Rachel Karchin (PLoS Comput. Biol., 2014)

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)

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)

Mutational signatures and mutable motifs in cancer genomes. - Igor B. Rogozin; Youri I. Pavlov; Alexander Goncearenco; Subhajyoti De; Artem G. Lada; Eugenia Poliakov; Anna R. Panchenko; David N. Cooper (Briefings Bioinform., 2018)

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)

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. - Peng Zhang 033; Bertrand Boisson; Peter D. Stenson; David N. Cooper; Jean-Laurent Casanova; Laurent Abel; Yuval Itan (Nucleic Acids Res., 2019)

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. - Jana Marie Schwarz; Daniela Hombach; Sebastian Köhler 001; David N. Cooper; Markus Schuelke; Dominik Seelow (Nucleic Acids Res., 2019)

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)

MutationTaster2021. - Robin Steinhaus; Sebastian Proft; Markus Schuelke; David N. Cooper; Jana Marie Schwarz; Dominik Seelow (Nucleic Acids Res., 2021)

Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization. - Siying Lin; Haoyang Zhang; Mengling Qi; David N. Cooper; Yuedong Yang; Yuanhao Yang; Huiying Zhao (NeuroImage, 2023)