Browse by All Cardiff Authors

Duffy, Áine, Chen, Robert, Stein, David, Park, Joshua K., Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Verbanck, Marie, Schlessinger, Avner, Itan, Yuval, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Jordan, Daniel M., Rocheleau, Ghislain and Do, Ron 2025. Development of a genetic priority score to predict drug side effects using human genetic evidence. Nature Communications 16 (1) , 8713. 10.1038/s41467-025-63762-y

Rastogi, Ruchir, Chung, Ryan, Li, Sindy, Li, Chang, Lee, Kyoungyeul, Woo, Junwoo, Kim, Dong-Wook, Keum, Changwon, Babbi, Giulia, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Chennen, Kirsley, Weber, Thomas, Poch, Olivier, Ancien, François, Cia, Gabriel, Pucci, Fabrizio, Raimondi, Daniele, Vranken, Wim, Rooman, Marianne, Marquet, Céline, Olenyi, Tobias, Rost, Burkhard, Andreoletti, Gaia, Kamandula, Akash, Peng, Yisu, Bakolitsa, Constantina, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Bergquist, Timothy, Pejaver, Vikas, Liu, Xiaoming, Radivojac, Predrag, Brenner, Steven E. and Ioannidis, Nilah M. 2025. Critical assessment of missense variant effect predictors on disease-relevant variant data. Human Genetics 10.1007/s00439-025-02732-2

Chen, Robert, Duffy, Áine, Petrazzini, Ben O., Vy, Ha My, Stein, David, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Park, Joshua K., Schlessinger, Avner, Itan, Yuval, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Jordan, Daniel M., Rocheleau, Ghislain and Do, Ron 2024. Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score. Nature Communications 15 (1) , 8891. 10.1038/s41467-024-53333-y

He, Dan, Li, Ling, Zhang, Huasong, Liu, Feiyi, Li, Shaoying, Xiu, Xuehao, Fan, Cong, Qi, Mengling, Meng, Meng, Ye, Junping, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Zhao, Huiying 2024. Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework. EBioMedicine 107 , 105286. 10.1016/j.ebiom.2024.105286

Meuser, Elena, Chang, Kyle, Walters, Angharad, Hurley, Joanna J., West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Perry, Iain, Mort, Matthew, Reyes-Uribe, Laura, Truscott, Rebekah, Jones, Nicholas, Lawrence, Rachel, Jenkins, Gareth, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Al-Sarireh, Bilal, Hawkes, Neil, Short, Emma, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Taggart, Melissa W., Luetchford, Kim, Lynch, Patrick M., Terlouw, Diantha, Nielsen, Maartje, Walton, Sarah-Jane, Latchford, Andrew, Clark, Susan K., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Vilar, Eduardo and Thomas, Laura E. 2024. PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis. Molecular Cancer Research 22 (6) , 515–523. 10.1158/1541-7786.MCR-23-0810

Lopes-Marques, Mónica, Mort, Matthew, Carneiro, João, Azevedo, António, Amaro, Andreia P., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Azevedo, Luísa 2024. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease. Human Genomics 18 (1) , 20. 10.1186/s40246-024-00587-8

Duffy, Áine, Petrazzini, Ben Omega, Stein, David, Park, Joshua K., Forrest, Iain S., Gibson, Kyle, Vy, Ha My, Chen, Robert, Márquez-Luna, Carla, Mort, Matthew, Verbanck, Marie, Schlessinger, Avner, Itan, Yuval, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Rocheleau, Ghislain, Jordan, Daniel M. and Do, Ron 2024. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics 56 (1) , pp. 51-59. 10.1038/s41588-023-01609-2

Fan, Cong, Chen, Ken, Wang, Yukai, Ball, Edward V., Stenson, Peter D., Mort, Matthew, Bacolla, Albino, Kehrer-Sawatzki, Hildegard, Tainer, John A., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Zhao, Huiying 2023. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics 142 , pp. 245-274. 10.1007/s00439-022-02500-6

Neville, Matthew D.C., Kohze, Robin, Erady, Chaitanya, Meena, Narendra, Hayden, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935 and Prabakaran, Sudhakaran 2021. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research 31 (2) , pp. 327-336. 10.1101/gr.263202.120

Thomas, L. E., Hurley, J. J., Sanchez, A. Alonso, Aznárez, M. R., Backman, A., Bjork, J., Capella, G., Clark, S. K., Colas, C., Dekker, E., Dolwani, S. ORCID: https://orcid.org/0000-0002-3113-5472, Ghorbanoghli, Z., Gonn, M., Romero, S. Gonzalez, Hes, F. J., Jundi, H., Kelland, S., Latchford, A., Brito, H. Leon, Lynch, P. M., Meuser, E., Mork, M. E., Mort, M. ORCID: https://orcid.org/0000-0002-3986-0935, Garcia, M. Navarro, Nielsen, M., Parc, Y., Ricci, M. T., Saurin, J. C., van der Tuin, K., Vasen, H., Vilar, E., Vinet, O., Vitellaro, M., Walton, S. J., West, H. D. ORCID: https://orcid.org/0000-0002-6104-6534 and Sampson, J. R. ORCID: https://orcid.org/0000-0002-2902-2348 2021. Duodenal adenomas and cancer in MUTYH-associated polyposis: an international cohort study. Gastroenterology 160 (3) , pp. 952-954. 10.1053/j.gastro.2020.10.038

Bacolla, Albino, Sengupta, Shiladitya, Ye, Zu, Yang, Chunying, Mitra, Joy, De-Paula, Ruth B, Hegde, Muralidhar L, Ahmed, Zamal, Mort, Matthew, Cooper, David N ORCID: https://orcid.org/0000-0002-8943-8484, Mitra, Sankar and Tainer, John A 2021. Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin. Nucleic Acids Research 49 (1) , pp. 221-243. 10.1093/nar/gkaa1120

Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2020. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nature Communications 11 (1) , 5918. 10.1038/s41467-020-19669-x

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3

Cardoso-Moreira, Margarida, Sarropoulos, Ioannis, Velten, Britta, Mort, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Huber, Wolfgang and Kaessmann, Henrik 2020. Developmental gene expression differences between humans and mammalian models. Cell Reports 33 (4) , 108308. 10.1016/j.celrep.2020.108308

Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28 (1) , pp. 118-121. 10.1038/s41431-019-0486-2

Lin, Hai, Hargreaves, Katherine A., Li, Rudong, Reiter, Jill L., Wang, Yue, Mort, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Zhou, Yaoqi, Zhang, Chi, Eadon, Michael T., Dolan, M. Eileen, Ipe, Joseph, Skaar, Todd C. and Liu, Yunlong 2019. RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. Genome Biology 20 (1) , 254. 10.1186/s13059-019-1847-4

Lin, Jin-Huan, Tang, Xin-Ying, Boulling, Arnaud, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun-Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2019. First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human Mutation 40 (10) , pp. 1856-1873. 10.1002/humu.23821

Fragoza, Robert, Das, Jishnu, Wierbowski, Shayne D., Liang, Jin, Tran, Tina N., Liang, Siqi, Beltran, Juan F., Rivera-Erick, Christen A., Ye, Kaixiong, Wang, Ting-Yi, Yao, Li, Mort, Matthew, Stenson, Peter D., Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G. and Yu, Haiyuan 2019. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications 10 (1) , 4141. 10.1038/s41467-019-11959-3

Cardoso-Moreira, Margarida, Halbert, Jean, Valloton, Delphine, Velten, Britta, Chen, Chunyan, Shao, Yi, Liechti, Angélica, Ascenção, Kelly, Rummel, Coralie, Ovchinnikova, Svetlana, Mazin, Pavel V., Xenarios, Ioannis, Harshman, Keith, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Sandi, Carmen, Soares, Michael J., Ferreira, Paula G., Afonso, Sandra, Carneiro, Miguel, Turner, James M. A., VandeBerg, John L., Fallahshahroudi, Amir, Jensen, Per, Behr, Rüdiger, Lisgo, Steven, Lindsay, Susan, Khaitovich, Philipp, Huber, Wolfgang, Baker, Julie, Anders, Simon, Zhang, Yong E. and Kaessmann, Henrik 2019. Gene expression across mammalian organ development. Nature 571 , 505 - 509. 10.1038/s41586-019-1338-5

Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2019. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Computational Biology 15 (6) , e1007112. 10.1371/journal.pcbi.1007112

Robinson-Rechavi, Marc, Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Hahn, Matthew W. and Radivojac, Predrag 2018. The sequencing and interpretation of the genome obtained from a Serbian individual. PLoS ONE 13 (12) , e0208901. 10.1371/journal.pone.0208901

Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo and Morrone, Amelia 2018. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC Medical Genetics 19 (1) , 183. 10.1186/s12881-018-0694-6

Hurley, Joanna J., Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Walton, Sarah-Jane, Thomas-Gibson, Siwan, Haycock, Adam, Suzuki, Noriko, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Williams, Geraint ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Clark, Susan K., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 2018. The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Gastrointestinal Endoscopy 88 (4) , pp. 665-673. 10.1016/j.gie.2018.04.2347

Zhao, Huiying, Yang, Yuedong, Lu, Yutong, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Zuo, Zhiyi and Zhou, Yaoqi 2018. Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Human Mutation 39 (2) , pp. 292-301. 10.1002/humu.23358

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Gaunt, Tom R. and Campbell, Colin 2018. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34 (3) , pp. 511-513. 10.1093/bioinformatics/btx536

Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID: https://orcid.org/0000-0003-3217-2811, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23 (21) , pp. 6721-6732. 10.1158/1078-0432.CCR-17-1269

Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Gaunt, Tom R. and Campbell, Colin 2017. An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. BMC bioinformatics 18 (1) , 442. 10.1186/s12859-017-1862-y

Lu, Tianyun, Ish-Shalom, Shirbi, Torng, Wen, Lafita, Aleix, Bock, Christian, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Bliven, Spencer, Capitani, Guido, Mooney, Sean D. and Altman, Russ. B. 2017. Biological and functional relevance of CASP predictions. Proteins 10.1002/prot.25396

Livingstone, Mark, Folkman, Lukas, Yang, Yuedong, Zhang, Ping, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Liu, Yunlong, Stantic, Bela and Zhou, Yaoqi 2017. Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants. Human Mutation 38 (10) , pp. 1336-1347. 10.1002/humu.23283

Zhang, Xinjun, Li, Meng, Lin, Hai, Rao, Xi, Feng, Weixing, Yang, Yuedong, Mort, Matthew, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Wang, Yue, Wang, Yadong, Wells, Clark, Zhou, Yaoqi and Liu, Yunlong 2017. regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution. Human Genetics 136 (9) , pp. 1279-1289. 10.1007/s00439-017-1783-x

Pagel, Kymberleigh A., Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2017. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics 33 (14) , i389-i398. 10.1093/bioinformatics/btx272

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6) , pp. 665-677. 10.1007/s00439-017-1779-6

Andreoletti, Gaia, Shakhnovich, Valentina, Christenson, Kathy, Coelho, Tracy, Haggarty, Rachel, Afzal, Nadeem A., Batra, Akshay, Petersen, Britt-Sabina, Mort, Matthew, Beattie, R. Mark and Ennis, Sarah 2017. Exome analysis of rare and common variants within the NOD signaling pathway. Scientific Reports 7 , 46454. 10.1038/srep46454

Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Krawczak, Michael and Caliebe, Amke 2017. IMHOTEP A composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acids Research 45 (3) , e13. 10.1093/nar/gkw886

Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Yu, Haiyuan 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18 (1) , 10. 10.1186/s13059-016-1138-2

Li, Meng, Feng, Weixing, Zhang, Xinjun, Yang, Yuedong, Wang, Kejun, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Wang, Yue, Zhou, Yaoqi and Liu, Yunlong 2017. ExonImpact: prioritizing pathogenic alternative splicing events. Human Mutation 38 (1) , pp. 16-24. 10.1002/humu.23111

Azevedo, Luisa, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Costa, Antonio C, Silva, Raquel M, Quelhas, Dulce, Amorim, Antonio and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2016. Improving the in silico assessment of pathogenicity for compensated variants. European Journal of Human Genetics 25 (1) , pp. 2-7. 10.1038/ejhg.2016.129

Wang, Qinghua, S. Abdul, Shabbir, Almeida, Lara, Ananiadou, Sophia, Balderas-Martínez, Yalbi I., Batista-Navarro, Riza, Campos, David, Chilton, Lucy, Chou, Hui-Jou, Contreras, Gabriela, Cooper, Laurel, Dai, Hong-Jie, Ferrell, Barbra, Fluck, Juliane, Gama-Castro, Socorro, George, Nancy, Gkoutos, Georgios, Irin, Afroza K., Jensen, Lars J., Jimenez, Silvia, Jue, Toni R., Keseler, Ingrid, Madan, Sumit, Matos, Sérgio, McQuilton, Peter, Milacic, Marija, Mort, Matthew, Natarajan, Jeyakumar, Pafilis, Evangelos, Pereira, Emiliano, Rao, Shruti, Rinaldi, Fabio, Rothfels, Karen, Salgado, David, Silva, Raquel M., Singh, Onkar, Stefancsik, Raymund, Su, Chu-Hsien, Subramani, Suresh, Tadepally, Hamsa D., Tsaprouni, Loukia, Vasilevsky, Nicole, Wang, Xiaodong, Chatr-Aryamontri, Andrew, Laulederkind, Stanley J. F., Matis-Mitchell, Sherri, McEntyre, Johanna, Orchard, Sandra, Pundir, Sangya, Rodriguez-Esteban, Raul, Van Auken, Kimberly, Lu, Zhiyong, Schaeffer, Mary, Wu, Cathy H., Hirschman, Lynette and Arighi, Cecilia N. 2016. Overview of the interactive task in BioCreative V. Database 2016 (baw119) 10.1093/database/baw119

Peterson, Thomas A., Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Radivojac, Predrag, Kann, Maricel G. and Mooney, Sean D. 2016. Regulatory single-nucleotide variant predictor increases predictive performance of functional regulatory variants. Human Mutation 37 (11) , pp. 1137-1143. 10.1002/humu.23049

Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mooney, Sean D. and Radivojac, Predrag 2016. The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease. PLoS Computational Biology 12 (8) , e1005091. 10.1371/journal.pcbi.1005091

Matos, Sérgio, Campos, David, Pinho, Renato, Silva, Raquel M., Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Oliveira, José Luís 2016. Mining clinical attributes of genomic variants through assisted literature curation in Egas. Database 2016 , baw096. 10.1093/database/baw096

Meyer, Michael J., Lapcevic, Ryan, Romero, Alfonso E., Yoon, Mark, Das, Jishnu, Beltrán, Juan Felipe, Mort, Matthew, Stenson, Peter Daniel, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Paccanaro, Alberto and Yu, Haiyuan 2016. mutation3D: cancer gene prediction through atomic clustering of coding variants in the structural proteome. Human Mutation 37 (5) , pp. 447-456. 10.1002/humu.22963

Upadhyaya, Meena, Winston, Jincy, Radcliffe, E., Mort, Matthew, Dodd, Kayleigh, Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631, McDyer, F., Moore, S., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Thomas, L. 2015. Correlation of copy number changes and gene expression in neurofibromatosis1-associated malignant peripheral nerve sheath tumours [Abstract]. Pediatric Blood and Cancer 62 (S4) , S152-S152. 10.1002/pbc.25715

Mort, Matthew Edwin, Carlisle, Francesca ORCID: https://orcid.org/0000-0002-9734-113X, Waite, Adrian, Elliston, Lyn, Allen, Nicholas Denby ORCID: https://orcid.org/0000-0003-4009-186X, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612 and Hughes, Alis 2015. Huntingtin exists as multiple splice forms in human brain. Journal of Huntington's Disease 4 (2) , pp. 161-171. 10.3233/JHD-150151

Shihab, H. A., Rogers, M. F., Gough, J., Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Day, I. N. M., Gaunt, T. R. and Campbell, C. 2015. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31 (10) , pp. 1536-1543. 10.1093/bioinformatics/btv009

Folkman, L., Yang, Y., Li, Z., Stantic, B., Sattar, A., Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Liu, Y. and Zhou, Y. 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. Bioinformatics 31 (10) , pp. 1599-1606. 10.1093/bioinformatics/btu862

Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9 (1) , 3. 10.1186/s40246-015-0025-3

Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian, Rogers, Mark and Upadhyaya, Meena 2015. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics 23 (1) , pp. 67-71. 10.1038/ejhg.2014.58

Rogers, Mark F., Campbell, Colin, Shihab, Hashem A., Gaunt, Tom R., Mort, Matthew and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2015. Sequential data selection for predicting the pathogenic effects of sequence variation. Presented at: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), Washington DC, USA, 9-12 November 2015. Bioinformatics and Biomedicine (BIBM), 2015 IEEE International Conference on. IEEE, pp. 639-644. 10.1109/BIBM.2015.7359759

Wei, Xiaomu, Das, Jishnu, Fragoza, Robert, Liang, Jin, Bastos de Oliveira, Francisco M., Lee, Hao Ran, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lipkin, Steven M., Smolka, Marcus B. and Yu, Haiyuan 2014. A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. PLoS Genetics 10 (12) , e1004819. 10.1371/journal.pgen.1004819

Shihab, Hashem A., Gough, Julian, Mort, Matthew Edwin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Day, Ian N. M. and Gaunt, Tom R. 2014. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Human Genomics 8 , 11. 10.1186/1479-7364-8-11

Zhang, Xinjun, Lin, Hai, Zhao, Huiying, Hao, Yangyang, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Zhou, Yaoqi and Liu, Yunlong 2014. Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Human Molecular Genetics 23 (11) , pp. 3024-3034. 10.1093/hmg/ddu019

Das, Jishnu, Lee, Hao Ran, Sagar, Adithya, Fragoza, Robert, Liang, Jin, Wei, Xiaomu, Wang, Xiujuan, Mort, Matthew, Stenson, Peter, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Yu, Haiyuan 2014. Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. Human Mutation 35 (5) , pp. 585-593. 10.1002/humu.22534

Hughes, Alis, Mort, Matthew Edwin, Elliston, Linda Anne, Thomas, Rhian M., Brooks, Simon Philip ORCID: https://orcid.org/0000-0001-9853-6177, Dunnett, Stephen Bruce ORCID: https://orcid.org/0000-0003-1826-1578 and Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612 2014. Identification of novel alternative splicing events in the Huntingtin gene and assessment of the functional consequences using structural protein homology modelling. Journal of Molecular Biology 426 (7) , pp. 1428-1438. 10.1016/j.jmb.2013.12.028

Mort, Matthew, Sterne-Weiler, Timothy, Li, Biao, Ball, Edward, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Radivojac, Predrag, Sanford, Jeremy R. and Mooney, Sean D. 2014. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biology 15 (1) , R19. 10.1186/gb-2014-15-1-r19

Stenson, Peter, Mort, Matthew, Ball, Edward, Shaw, Katy, Phillips, Andrew and Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133 (1) , pp. 1-9. 10.1007/s00439-013-1358-4

Bagchi, Angshuman, Mort, Matthew, Li, Biao, Xin, Fuxiao, Carlise, Carson, Oron, Tal, Powell, Corey, Youn, Eunseog, Radivojac, Predrag, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Mooney, Sean D. 2013. Analysis of features from protein-protein hetero-complex structures to predict protein interaction interfaces using machine learning. Procedia Technology 10 , pp. 62-66. 10.1016/j.protcy.2013.12.337

Zhao, Huiying, Yang, Yuedong, Lin, Hai, Zhang, Xinjun, Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Liu, Yunlong and Zhou, Yaoqi 2013. DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. Genome Biology 14 (3) , R23. 10.1186/gb-2013-14-3-r23.

Ku, C S, Polychronakos, C, Tan, E K, Naidoo, N, Pawitan, Y, Roukos, D H, Mort, Matthew Edwin and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2013. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Molecular Psychiatry 18 (2) , pp. 141-153. 10.1038/mp.2012.58

Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Richards, Mark ORCID: https://orcid.org/0000-0002-2266-3329, Mort, Matthew Edwin, Dunlop, Elaine A. ORCID: https://orcid.org/0000-0002-9209-7561, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33 (12) , pp. 1687-1696. 10.1002/humu.22162

Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Tyler-Smith, Chris 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91 (6) , pp. 1022-1032. 10.1016/j.ajhg.2012.10.015

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shaw, Katy and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39 , 1.13.1-1.13.20. 10.1002/0471250953.bi0113s39

Teng, Mingxiang, Ichikawa, Shoji, Padgett, Leah R., Wang, Yadong, Mort, Matthew Edwin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Koller, Daniel L., Foroud, Tatiana, Edenberg, Howard J., Econs, Michael J. and Liu, Yunlong 2012. regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. Bioinformatics 28 (14) , pp. 1879-1886. 10.1093/bioinformatics/bts275

Scally, Aylwyn, Dutheil, Julien Y., Hillier, LaDeana W., Jordan, Gregory E., Goodhead, Ian, Herrero, Javier, Hobolth, Asger, Lappalainen, Tuuli, Mailund, Thomas, Marques-Bonet, Tomas, McCarthy, Shane, Montgomery, Stephen H., Schwalie, Petra C., Tang, Y. Amy, Ward, Michelle C., Xue, Yali, Yngvadottir, Bryndis, Alkan, Can, Andersen, Lars N., Ayub, Qasim, Ball, Edward Vincent, Beal, Kathryn, Bradley, Brenda J., Chen, Yuan, Clee, Chris M., Fitzgerald, Stephen, Graves, Tina A., Gu, Yong, Heath, Paul, Heger, Andreas, Karakoc, Emre, Kolb-Kokocinski, Anja, Laird, Gavin K., Lunter, Gerton, Meader, Stephen, Mort, Matthew Edwin, Mullikin, James C., Munch, Kasper, O'Connor, Timothy D., Phillips, Andrew David, Prado-Martinez, Javier, Rogers, Anthony S., Sajjadian, Saba, Schmidt, Dominic, Shaw, Katy, Simpson, Jared T., Stenson, Peter Daniel, Turner, Daniel J., Vigilant, Linda, Vilella, Albert J., Whitener, Weldon, Zhu, Baoli, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, de Jong, Pieter, Dermitzakis, Emmanouil T., Eichler, Evan E., Flicek, Paul, Goldman, Nick, Mundy, Nicholas I., Ning, Zemin, Odom, Duncan T., Ponting, Chris P., Quail, Michael A., Ryder, Oliver A., Searle, Stephen M., Warren, Wesley C., Wilson, Richard K., Schierup, Mikkel H., Rogers, Jane, Tyler-Smith, Chris and Durbin, Richard 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483 (7388) , pp. 169-175. 10.1038/nature10842

Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207

Zhang, Guojie, Pei, Zhang, Ball, Edward Vincent, Mort, Matthew Edwin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Kehrer-Sawatzki, Hildegard 2011. Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Human Genomics 5 (5) , pp. 453-484.

Sterne-Weiler, T., Howard, J., Mort, Matthew, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Sanford, J. R. 2011. Loss of exon identity is a common mechanism of human inherited disease. Genome Research 21 (10) , pp. 1563-1571. 10.1101/gr.118638.110

Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Filocamo, Mirella 2011. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet Journal of Rare Diseases 6 , 40. 10.1186/1750-1172-6-40

Zhao, Yiqiang, Clark, Wyatt T., Mort, Matthew Edwin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Radivojac, Predrag and Mooney, Sean D. 2011. Prediction of functional regulatory SNPs in monogenic and complex disease. Human Mutation 32 (10) , pp. 1183-1190. 10.1002/humu.21559

Wolf, Andreas, Caliebe, Amke, Thomas, Nicholas Stuart Tudor, Ball, Edward Vincent, Mort, Matthew Edwin, Stenson, Peter Daniel, Krawczak, Michael and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2011. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Human Mutation 32 (10) , pp. 1137-1143. 10.1002/humu.21547

Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew Edwin, Rosano, Camillo, Tylki-Szymanska, Anna, Tüysüz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam, Biondi, Andrea, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Parini, Rossella 2011. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Human Mutation 32 (6) , E2189-E2210. 10.1002/humu.21479

Durbin, Richard M., Altshuler, David L., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly, Peter, Egholm, Michael, Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Knoppers, Bartha M., Lander, Eric S., Lehrach, Hans, Mardis, Elaine R., McVean, Gil A., Nickerson, Debbie A., Peltonen, Leena, Schafer, Alan J., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Gibbs, Richard A., Deiros, David, Metzker, Mike, Muzny, Donna, Reid, Jeff, Wheeler, David, Wang, Jun, Li, Jingxiang, Jian, Min, Li, Guoqing, Li, Ruiqiang, Liang, Huiqing, Tian, Geng, Wang, Bo, Wang, Jian, Wang, Wei, Yang, Huanming, Zhang, Xiuqing, Zheng, Huisong, Lander, Eric S., Altshuler, David L., Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Bentley, David R., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Lehrach, Hans, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Egholm, Michael, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Mardis, Elaine R., Wilson, Richard K., Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Durbin, Richard M., Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Gibbs, Richard A., Wheeler, David, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Wang, Jun, Fang, Xiaodong, Guo, Xiaosen, Li, Ruiqiang, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Li, Guoqing, Wang, Jian, Yang, Huanming, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Altshuler, David L., Ball, Aaron D., Banks, Eric, Bloom, Toby, Browning, Brian L., Cibulskis, Kristian, Fennell, Tim J., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Jaffe, David B., Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shefler, Erica, Shlyakhter, Ilya A., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Stenson, Peter Daniel, Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Clark, Andrew G., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xin, Reynolds, Andy, Clarke, Laura, Flicek, Paul, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stütz, Adrian M., Humphray, Sean, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Chakravarti, Aravinda, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Hyland, Fiona C. L., Manning, Jonathan M., McLaughlin, Stephen F., Peckham, Heather E., Sakarya, Onur, Sun, Yongming A., Tsung, Eric F., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Sudbrak, Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Parkhomchuk, Dimitri V., Sherry, Stephen T., Agarwala, Richa, Khouri, Hoda M., Morgulis, Aleksandr O., Paschall, Justin E., Phan, Lon D., Rotmistrovsky, Kirill E., Sanders, Robert D., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Auton, Adam, Iqbal, Zamin, Lunter, Gerton, Marchini, Jonathan L., Moutsianas, Loukas, Myers, Simon, Tumian, Afidalina, Desany, Brian, Knight, James, Winer, Roger, Craig, David W., Beckstrom-Sternberg, Steve M., Christoforides, Alexis, Kurdoglu, Ahmet A., Pearson, John V., Sinari, Shripad A., Tembe, Waibhav D., Haussler, David, Hinrichs, Angie S., Katzman, Sol J., Kern, Andrew, Kuhn, Robert M., Przeworski, Molly, Hernandez, Ryan D., Howie, Bryan, Kelley, Joanna L., Cord Melton, S., Abecasis, Gonçalo R., Li, Yun, Anderson, Paul, Blackwell, Tom, Chen, Wei, Cookson, William O., Ding, Jun, Min Kang, Hyun, Lathrop, Mark, Liang, Liming, Moffatt, Miriam F., Scheet, Paul, Sidore, Carlo, Snyder, Matthew, Zhan, Xiaowei, Zöllner, Sebastian, Awadalla, Philip, Casals, Ferran, Idaghdour, Youssef, Keebler, John, Stone, Eric A., Zilversmit, Martine, Jorde, Lynn, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Cenk Sahinalp, S., Sudmant, Peter H., Mardis, Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Koboldt, Daniel C., McLellan, Mike D., Dooling, David, Weinstock, George, Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Durbin, Richard M., Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Barrett, Jeffrey C., Carter, David M., Chen, Yuan, Conrad, Donald F., Danecek, Petr, Dermitzakis, Emmanouil T., Hu, Min, Huang, Ni, Hurles, Matt E., Jin, Hanjun, Jostins, Luke, Keane, Thomas M., Quang Le, Si, Lindsay, Sarah, Long, Quan, MacArthur, Daniel G., Montgomery, Stephen B., Parts, Leopold, Stalker, James, Tyler-Smith, Chris, Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Balasubramanian, Suganthi, Bjornson, Robert, Du, Jiang, Grubert, Fabian, Habegger, Lukas, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Li, Yingrui, Luo, Ruibang, Marth, Gabor T., Garrison, Erik P., Kural, Deniz, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, McCarroll, Steven A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Hartl, Chris, Korn, Joshua M., Li, Heng, Nemesh, James C., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Degenhardt, Jeremiah, Kaganovich, Mark, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, Korbel, Jan O., Humphray, Sean, Keira Cheetham, R., Eberle, Michael, Kahn, Scott, Murray, Lisa, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Peckham, Heather E., Sun, Yongming A., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Xiao, Chunlin, Iqbal, Zamin, Desany, Brian, Blackwell, Tom, Snyder, Matthew, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Chen, Ken, Chinwalla, Asif, Ding, Li, McLellan, Mike D., Wallis, John W., Hurles, Matt E., Conrad, Donald F., Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Du, Jiang, Grubert, Fabian, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Gibbs, Richard A., Bainbridge, Matthew, Challis, Danny, Coafra, Cristian, Dinh, Huyen, Kovar, Christie, Lee, Sandy, Muzny, Donna, Nazareth, Lynne, Reid, Jeff, Sabo, Aniko, Yu, Fuli, Yu, Jin, Marth, Gabor T., Garrison, Erik P., Indap, Amit, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Ward, Alistair N., Wu, Jiantao, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Garimella, Kiran V., Hartl, Chris, Shefler, Erica, Sougnez, Carrie L., Wilkinson, Jane, Clark, Andrew G., Gravel, Simon, Grubert, Fabian, Clarke, Laura, Flicek, Paul, Smith, Richard E., Zheng-Bradley, Xiangqun, Sherry, Stephen T., Khouri, Hoda M., Paschall, Justin E., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Katzman, Sol J., Abecasis, Gonçalo R., Blackwell, Tom, Mardis, Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Koboldt, Daniel C., Durbin, Richard M., Balasubramaniam, Senduran, Coffey, Allison, Keane, Thomas M., MacArthur, Daniel G., Palotie, Aarno, Scott, Carol, Stalker, James, Tyler-Smith, Chris, Gerstein, Mark B., Balasubramanian, Suganthi, Chakravarti, Aravinda, Knoppers, Bartha M., Abecasis, Gonçalo R., Bustamante, Carlos D., Gharani, Neda, Gibbs, Richard A., Jorde, Lynn, Kaye, Jane S., Kent, Alastair, Li, Taosha, McGuire, Amy L., McVean, Gil A., Ossorio, Pilar N., Rotimi, Charles N., Su, Yeyang, Toji, Lorraine H., Tyler-Smith, Chris, Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Abdallah, Assya, Juenger, Christopher R., Clemm, Nicholas C., Collins, Francis S., Duncanson, Audrey, Green, Eric D., Guyer, Mark S., Peterson, Jane L., Schafer, Alan J., Abecasis, Gonçalo R., Altshuler, David L., Auton, Adam, Brooks, Lisa D., Durbin, Richard M., Gibbs, Richard A., Hurles, Matt E. and McVean, Gil A. 2010. A map of human genome variation from population-scale sequencing. Nature 467 (7319) , pp. 1061-1073. 10.1038/nature09534

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mort, Matthew Edwin, Stenson, Peter Daniel, Ball, Edward Vincent and Chuzhanova, Nadia A. 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Human Genomics 4 (6) , pp. 406-410.

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Ball, Edward Vincent and Mort, Matthew Edwin 2010. Chromosomal distribution of disease genes in the human genome. Genetic Testing and Molecular Biomarkers 14 (4) , pp. 441-446. 10.1089/gtmb.2010.0081

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Mort, Matthew 2010. Do inherited disease genes have distinguishing functional characteristics? Genetic Testing and Molecular Biomarkers 14 (3) , pp. 289-291. 10.1089/gtmb.2010.0033

Zhang, Guojie, Pei, Zhang, Krawczak, Michael, Ball, Edward Vincent, Mort, Matthew Edwin, Kehrer-Sawatzki, Hildegard and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31 (12) , pp. 1286-1293. 10.1002/humu.21389

Tappino, Barbara, Biancheri, Roberta, Mort, Matthew Edwin, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Filocamo, Mirella 2010. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human Mutation 31 (12) , E1894-E1914. 10.1002/humu.21367

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Chen, Jian-Min, Ball, Edward Vincent, Howells, Katy, Mort, Matthew Edwin, Phillips, Andrew David, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard and Stenson, Peter Daniel 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31 (6) , pp. 631-655. 10.1002/humu.21260

Mort, Matthew Edwin, Evani, Uday S., Krishnan, Vidhya G., Kamati, Kishore K., Baenziger, Peter H., Bagchi, Angshuman, Peters, Brandon J., Sathyesh, Rakesh, Li, Biao, Sun, Yanan, Xue, Bin, Shah, Nigam H., Kann, Maricel G., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Radivojac, Predrag and Mooney, Sean D. 2010. In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Human Mutation 31 (3) , pp. 335-346. 10.1002/humu.21192

Stenson, Peter Daniel, Ball, Edward Vincent, Howells, Katy, Phillips, Andrew David, Mort, Matthew Edwin and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4 (2) , pp. 69-72.

Stenson, Peter Daniel, Mort, Matthew, Ball, Edward, Howells, Katy, Phillips, Andrew David, Thomas, Nick and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) , 13. 10.1186/gm13

Sanford, J. R., Wang, X., Mort, Matthew Edwin, VanDuyn, N., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mooney, S. D., Edenberg, H. J. and Liu, Y. 2009. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Research 19 (3) , pp. 381-394. 10.1101/gr.082503.108

Li, B., Krishnan, V. G., Mort, Matthew Edwin, Xin, F., Kamati, K. K., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mooney, S. D. and Radivojac, P. 2009. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25 (21) , pp. 2744-2750. 10.1093/bioinformatics/btp528

Mort, Matthew Edwin, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chuzhanova, Nadia 2008. A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation 29 (8) , pp. 1037-1047. 10.1002/humu.20763

Radivojac, P., Baenziger, P. H., Kann, M. G., Mort, Matthew, Hahn, M. W. and Mooney, S. D. 2008. Gain and loss of phosphorylation sites in human cancer. Bioinformatics 24 (16) , i241-i247. 10.1093/bioinformatics/btn267

Krawczak, Michael, Thomas, Nick S.T., Hundrieser, Bernd, Mort, Matthew, Wittig, Michael, Hampe, Jochen and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2007. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Human Mutation 28 (2) , pp. 150-158. 10.1002/humu.20400

Stenson, Peter Daniel, Ball, Edward, Howells, Katy, Phillips, Andrew, Mort, Matthew Edwin and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45 (2) , pp. 124-126. 10.1136/jmg.2007.055210

Khan, Imtiaz Ali, Mort, Matthew, Buckland, Paul Robert, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Cooper, D. N. and Chuzhanova, N. A. 2006. In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity. In silico Biology 6 (1-2) , pp. 23-34.

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shiel, J. A., Thomas, Nicholas Stuart, Abeysinghe, S. S., Krawczak, M. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21 (6) , pp. 577-581. 10.1002/humu.10212