Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Shendure, Jay" or (type any "bookEditor issueEditor" and editor="Shendure, Jay") Add to list Journal Article A1 open access Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D Smith, Deborah A Nickerson, Jay Shendure, et al. (2016) BMC MEDICAL GENETICS. 17. Add to list Journal Article A1 ALG1-CDG: clinical and molecular characterization of 39 unreported patients Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, et al. (2016) HUMAN MUTATION. 37(7). p.653-660 Add to list Journal Article A1 MAT2A Mutations predispose individuals to thoracic aortic aneurysms Dong-chuan Guo, Limin Gong, Ellen S Regalado, Regie L Santos-Cortez, Ren Zhao, Bo Cai, Sudha Veeraraghavan, Siddharth K Prakash, Ralph J Johnson, Ann Muilenburg, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 96(1). p.170-177 Add to list Journal Article A1 Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer Martin Peifer, Lynnette Fernández-Cuesta, Martin L Sos, Julie George, Danila Seidel, Lawryn H Kasper, Dennis Plenker, Frauke Leenders, Ruping Sun, Thomas Zander, et al. (2012) NATURE GENETICS. 44(10). p.1104-1110