Browse by Current Cardiff authors

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

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

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

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

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

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

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, 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

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

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

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

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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.

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

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

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

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

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

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