1. Biological and functional relevance of CASP predictions. (17th October 2017) Authors: Liu, Tianyun; Ish‐Shalom, Shirbi; Torng, Wen; Lafita, Aleix; Bock, Christian; Mort, Matthew; Cooper, David N; Bliven, Spencer; Capitani, Guido; Mooney, Sean D.; Altman, Russ B. Journal: Proteins Issue: Volume 86(2017)Supplement 1 Page Start: 374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Elucidating Common Structural Features of Human Pathogenic Variations Using Large‐Scale Atomic‐Resolution Protein Networks. Issue 5 (7th April 2014) Authors: Das, Jishnu; Lee, Hao Ran; Sagar, Adithya; Fragoza, Robert; Liang, Jin; Wei, Xiaomu; Wang, Xiujuan; Mort, Matthew; Stenson, Peter D.; Cooper, David N.; Yu, Haiyuan Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 585 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. Issue 1 (3rd October 2016) Authors: Li, Meng; Feng, Weixing; Zhang, Xinjun; Yang, Yuedong; Wang, Kejun; Mort, Matthew; Cooper, David N; Wang, Yue; Zhou, Yaoqi; Liu, Yunlong Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019) Authors: 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; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao‐Shen; ... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. Issue 2 (18th February 2020) Authors: Ashton, James J.; Mossotto, Enrico; Stafford, Imogen S.; Haggarty, Rachel; Coelho, Tracy A.F.; Batra, Akshay; Afzal, Nadeem A.; Mort, Matthew; Bunyan, David; Beattie, Robert Mark; Ennis, Sarah Journal: Clinical and translational gastroenterology Issue: Volume 11:Issue 2(2020) Page Start: e00129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin. Issue 1 (9th December 2020) Authors: Bacolla, Albino; Sengupta, Shiladitya; Ye, Zu; Yang, Chunying; Mitra, Joy; De-Paula, Ruth B; Hegde, Muralidhar L; Ahmed, Zamal; Mort, Matthew; Cooper, David N; Mitra, Sankar; Tainer, John A Journal: Nucleic acids research Issue: Volume 49:Issue 1(2021) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Investigating DNA‐, RNA‐, and protein‐based features as a means to discriminate pathogenic synonymous variants. Issue 10 (10th July 2017) Authors: Livingstone, Mark; Folkman, Lukas; Yang, Yuedong; Zhang, Ping; Mort, Matthew; Cooper, David N.; Liu, Yunlong; Stantic, Bela; Zhou, Yaoqi Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Issue 1 (December 2017) Authors: Liang, Siqi; Tippens, Nathaniel; Zhou, Yaoda; Mort, Matthew; Stenson, Peter; Cooper, David; Yu, Haiyuan Journal: Genome biology Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome. Issue 5 (18th February 2016) Authors: Meyer, Michael J.; Lapcevic, Ryan; Romero, Alfonso E.; Yoon, Mark; Das, Jishnu; Beltrán, Juan Felipe; Mort, Matthew; Stenson, Peter D.; Cooper, David N.; Paccanaro, Alberto; Yu, Haiyuan Journal: Human mutation Issue: Volume 37:Issue 5(2016) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Issue 2 (21st November 2017) Authors: Zhao, Huiying; Yang, Yuedong; Lu, Yutong; Mort, Matthew; Cooper, David N.; Zuo, Zhiyi; Zhou, Yaoqi Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗