화학공학소재연구정보센터
검색결과 : 34건
No. Article
1 A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)
Collins RL, Brand H, Karczewski KJ, Zhao XF, Alfldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang HR, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, Gauthier LD, Talkowski ME
Nature, 590(7846), E55, 2021
2 Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alfldi J, Daly MJ, MacArthur DG
Nature, 590(7846), E54, 2021
3 The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Aggregation G, Neale BM, Daly MJ, MacArthur DG
Nature, 590(7846), E53, 2021
4 Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG
Nature, 590(7846), E56, 2021
5 The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG
Nature, 581(7809), 434, 2020
6 A structural variation reference for medical and population genetics
Collins RL, Brand H, Karczewski KJ, Zhao X, Alfoldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME
Nature, 581(7809), 444, 2020
7 Transcript expression-aware annotation improves rare variant interpretation
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alfoldi J, Daly MJ, MacArthur DG
Nature, 581(7809), 452, 2020
8 Evaluating drug targets through human loss-of-function genetic variation
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfoldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG
Nature, 581(7809), 459, 2020
9 Discovery of stimulation-responsive immune enhancers with CRISPR activation (vol 549, pg 111, 2017)
Simeonov DR, Gowen BG, Boontanrart M, Roth TL, Gagnon JD, Mumbach MR, Satpathy AT, Lee YJ, Bray NL, Chan AY, Lituiev DS, Nguyen ML, Gate RE, Subramaniam M, Li ZM, Woo JM, Mitros T, Ray GJ, Curie GL, Naddaf N, Chu JS, Ma H, Boyer E, Van Gool F, Huang HL, Liu RZ, Tobin VR, Schumann K, Daly MJ, Farh KK, Ansel KM, Ye CJ, Greenleaf WJ, Anderson MS, Bluestone JA, Chang HY, Corn JE, Marson A
Nature, 559(7715), 2018
10 C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions
Mohanan V, Nakata T, Desch AN, Levesque C, Boroughs A, Guzman G, Cao ZF, Creasey E, Yao JM, Boucher G, Charron G, Bhan AK, Schenone M, Carr SA, Reinecker HC, Daly MJ, Rioux JD, Lassen KG, Xavier RJ
Science, 359(6380), 1161, 2018