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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification Ryu, Jayoung; Barkal, Sam; Yu, Tian; Jankowiak, Martin; Zhou, Yunzhuo; Francoeur, Matthew; Phan, Quang Vinh; Li, Zhijian; Tognon, Manuel; Brown, Lara; Love, Michael I.; Bhat, Vineel; Lettre, Guillaume; Ascher, David B.; Cassa, Christopher A.; Sherwood, Richard I.; Pinello, Luca 分享 收藏
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Systematic elucidation of genetic mechanisms underlying cholesterol uptake Hamilton, Marisa C.; Fife, James D.; Akinci, Ersin; Yu, Tian; Khowpinitchai, Benyapa; Cha, Minsun; Barkal, Sammy; Thi, Thi Tun; Yeo, Grace H. T.; Barroso, Juan Pablo Ramos; Francoeur, Matthew Jake; Velimirovic, Minja; Gifford, David K.; Lettre, Guillaume; Yu, Haojie; Cassa, Christopher A.; Sherwood, Richard I. 分享 收藏
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The missing link between genetic association and regulatory function Connally, Noah J.; Nazeen, Sumaiya; Lee, Daniel; Shi, Huwenbo; Stamatoyannopoulos, John; Chun, Sung; Cotsapas, Chris; Cassa, Christopher A.; Sunyaev, Shamil R.; Flint, Jonathan 分享 收藏
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation Ouahed, Jodie; Kelsen, Judith R.; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn E.; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H.; Li, Dalin; Naito, Takeo; McGovern, Dermot P. B.; Kwong, Andrew C.; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H.; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M.; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R.; Cant, Andrew J.; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A.; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Giraudo, Claudio G.; Snapper, Scott B. 分享 收藏
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy Kousi, Maria; Soylemez, Onuralp; Ozanturk, Aysegul; Mourtzi, Niki; Akle, Sebastian; Jungreis, Irwin; Muller, Jean; Cassa, Christopher A.; Brand, Harrison; Mokry, Jill Anne; Wolf, Maxim Y.; Sadeghpour, Azita; McFadden, Kelsey; Lewis, Richard A.; Talkowski, Michael E.; Dollfus, Helene; Kellis, Manolis; Davis, Erica E.; Sunyaev, Shamil R.; Katsanis, Nicholas 分享 收藏
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions Fahed, Akl C.; Wang, Minxian; Homburger, Julian R.; Patel, Aniruddh P.; Bick, Alexander G.; Neben, Cynthia L.; Lai, Carmen; Brockman, Deanna; Philippakis, Anthony; Ellinor, Patrick T.; Cassa, Christopher A.; Lebo, Matthew; Ng, Kenney; Lander, Eric S.; Zhou, Alicia Y.; Kathiresan, Sekar; Khera, Amit V. 分享 收藏
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History Patel, Aniruddh P.; Wang, Minxian; Fahed, Akl C.; Mason-Suares, Heather; Brockman, Deanna; Pelletier, Renee; Amr, Sami; Machini, Kalotina; Hawley, Megan; Witkowski, Leora; Koch, Christopher; Philippakis, Anthony; Cassa, Christopher A.; Ellinor, Patrick T.; Kathiresan, Sekar; Ng, Kenney; Lebo, Matthew; Khera, Amit, V 分享 收藏
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer Nissim, Sahar; Leshchiner, Ignaty; Mancias, Joseph D.; Greenblatt, Matthew B.; Maertens, Ophelia; Cassa, Christopher A.; Rosenfeld, Jill A.; Cox, Andrew G.; Hedgepeth, John; Wucherpfennig, Julia I.; Kim, Andrew J.; Henderson, Jake E.; Gonyo, Patrick; Brandt, Anthony; Lorimer, Ellen; Unger, Bethany; Prokop, Jeremy W.; Heidel, Jerry R.; Wang, Xiao-Xu; Ukaegbu, Chinedu I.; Jennings, Benjamin C.; Paulo, Joao A.; Gableske, Sebastian; Fierke, Carol A.; Getz, Gad; Sunyaev, Shamil R.; Harper, J. Wade; Cichowski, Karen; Kimmelman, Alec C.; Houvras, Yariv; Syngal, Sapna; Williams, Carol; Goessling, Wolfram 分享 收藏
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Reply to 'Selective effects of heterozygous protein-truncating variants' 对 “杂合蛋白截短变异的选择性效应” 的答复 Cassa, Christopher A.; Weghorn, Donate; Balick, Daniel J.; Jordan, Daniel M.; Nusinow, David; Samocha, Kaitlin E.; O'Donnell-Luria, Anne; MacArthur, Daniel G.; Daly, Mark J.; Beier, David R.; Sunyaev, Shamil R. 分享 收藏
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MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS Kelsen, Judith R.; Ouahed, Jodie; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Yeboa, Kwame Anyane; Wou, Karen; Jain, Preti; Tollefson, Sophia; Evans, Jonathan; Warner, Neil; Muise, Alexio; Goldsmith, Jeffrey; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Snapper, Scott B.; Giraudo, Claudio G. 分享 收藏
Mutations in RABL3 alter RAS prenylation and are associated with hereditary pancreatic cancer Nissim, Sahar; Leshchiner, Ignaty; Mancias, Joseph D.; Greenblatt, Matthew B.; Maertens, Ophelia; Cassa, Christopher A.; Rosenfeld, Jill A.; Cox, Andrew G.; Hedgepeth, John; Wucherpfennig, Julia; Kim, Andrew J.; Henderson, Jake E.; Gonyo, Patrick; Brandt, Anthony; Lorimer, Ellen; Unger, Bethany; Prokop, Jeremy W.; Heidel, Jeremy W.; Wang, Xiao-Xu; Ukaegbu, Chinedu I.; Getz, Gad; Sunyaev, Shamil R.; Harper, J. Wade; Cichowski, Karen; Kimmelman, Alec C.; Houvras, Yariv; Syngal, Sapna; Williams, Carol; Goessling, Wolfram 分享 收藏
Estimating the selective effects of heterozygous protein-truncating variants from human exome data 从人类外显子组数据估计杂合蛋白截短变体的选择性作用 Cassa, Christopher A.; Weghorn, Donate; Balick, Daniel J.; Jordan, Daniel M.; Nusinow, David; Samocha, Kaitlin E.; O'Donnell-Luria, Anne; MacArthur, Daniel G.; Daly, Mark J.; Beier, David R.; Sunyaev, Shamil R. 分享 收藏
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