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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 Share Save
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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. Share Save
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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 Share Save
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. Share Save
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 Share Save
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. Share Save
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 Share Save
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 Share Save
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Reply to 'Selective effects of heterozygous protein-truncating variants' 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. Share Save
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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. Share Save
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 Share Save
Estimating the selective effects of heterozygous protein-truncating variants from human exome data 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. Share Save
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