Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Minikel, EV"'
Autor:
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
Publikováno v:
E56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::5580f0fe5da7b258ccd0cf8852036867
http://hdl.handle.net/10044/1/89827
http://hdl.handle.net/10044/1/89827
Autor:
Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, 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
Publikováno v:
E4
E3
E3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::1e8be7f3028cd4fe32f1efd8dec51c61
http://hdl.handle.net/10044/1/95288
http://hdl.handle.net/10044/1/95288
Autor:
Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, N, Cole, JB, Wang, Q, Karczewski, KJ, Cummings, BB, Francioli, L, Laricchia, K, Guan, A, Alipanahi, B, Morrison, P, Baptista, MAS, Merchant, KM, Genome Aggregation Database Production Team^, Genome Aggregation Database Consortium, Ware, J, Havulinna, AS, Iliadou, B, Lee, J-J, Nadkarni, GN, Whiteman, C, Daly, M, Esko, T, Hultman, C, Loos, RJF, Milani, L, Palotie, A, Pato, C, Pato, M, Saleheen, D, Sullivan, PF, Alföldi, J, Cannon, P, MacArthur, DG
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation, and can be valuable indicators of gene function and the potential toxicity of therapeutic in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::4e37a64e74f116dc45d95c97484b4984
http://hdl.handle.net/10044/1/79583
http://hdl.handle.net/10044/1/79583
Autor:
Minikel, EV, Karczewski, KJ, Martin, HC, Cummings, BB, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, RC, Van Heel, DA, Daly, MJ, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber, SL, MacArthur, DG
Naturally occurring human genetic variants predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements cell and model organism knockout studies. Here we report three key findings regarding assessm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::852609b83ffbece9686f0fdb2001d3b7
http://hdl.handle.net/10044/1/78192
http://hdl.handle.net/10044/1/78192
Autor:
Gentile JE; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Corridon TL; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Mortberg MA; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., D'Souza EN; Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford, UK., Whiffin N; Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford, UK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Minikel EV; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Vallabh SM; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. Electronic address: svallabh@broadinstitute.org.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2024 Aug; Vol. 300 (8), pp. 107560. Date of Electronic Publication: 2024 Jul 11.
Autor:
Vallabh SM; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Mortberg MA; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Allen SW; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Kupferschmid AC; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Kivisakk P; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Hammerschlag BL; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Bolling A; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Trombetta BA; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Devitte-McKee K; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Ford AM; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Sather LE; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Duffy G; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Rivera A; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Gerber J; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., McManus AJ; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Minikel EV; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA., Arnold SE; From the McCance Center for Brain Health (S.M.V., M.A.M., E.V.M.) and Department of Neurology (S.M.V., M.A.M., S.W.A., A.C.K., P.K., B.L.H., A.B., B.A.T., K.D.-M., A.M.F., L.E.S., G.D., A.R., J.G., A.J.M., E.V.M., S.E.A.), Massachusetts General Hospital, Boston; Stanley Center for Psychiatric Research (S.M.V., M.A.M., E.V.M.), Broad Institute of MIT and Harvard, Cambridge; and Department of Neurology (S.M.V., P.K., E.V.M., S.E.A.), Harvard Medical School, Boston, MA.
Publikováno v:
Neurology [Neurology] 2024 Jul 23; Vol. 103 (2), pp. e209506. Date of Electronic Publication: 2024 Jun 19.
Autor:
Neumann EN; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Bertozzi TM; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02142, USA., Wu E; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA., Serack F; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Harvey JW; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Brauer PP; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Pirtle CP; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Coffey A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Howard M; Comparative Medicine, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Kamath N; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Lenz K; Comparative Medicine, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Guzman K; Comparative Medicine, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Raymond MH; Biological Design Center, Boston University, Boston, MA 02215, USA.; Department of Biomedical Engineering, Boston University, Boston, MA 02215, USA., Khalil AS; Biological Design Center, Boston University, Boston, MA 02215, USA.; Department of Biomedical Engineering, Boston University, Boston, MA 02215, USA.; Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA 02115, USA., Deverman BE; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Minikel EV; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Vallabh SM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Weissman JS; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02142, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
Publikováno v:
Science (New York, N.Y.) [Science] 2024 Jun 28; Vol. 384 (6703), pp. ado7082. Date of Electronic Publication: 2024 Jun 28.
Autor:
Gentile JE, Heiss C, Corridon TL, Mortberg MA, Fruhwürth S, Guzman K, Grötschel L, Chan K, Herring NC, Janicki T, Nhass R, Sarathy JM, Erickson B, Kunz R, Erickson A, Braun C, Henry KT, Bry L, Arnold SE, Minikel EV, Zetterberg H, Vallabh SM
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 02. Date of Electronic Publication: 2024 May 02.
Autor:
Minikel EV; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA., Painter JL; JiveCast, Raleigh, NC, USA.; GlaxoSmithKline, Research Triangle Park, NC, USA., Dong CC; Deerfield Management Company LP, New York, NY, USA., Nelson MR; Deerfield Management Company LP, New York, NY, USA. mnelson@genscience.com.; Genscience LLC, New York, NY, USA. mnelson@genscience.com.
Publikováno v:
Nature [Nature] 2024 May; Vol. 629 (8012), pp. 624-629. Date of Electronic Publication: 2024 Apr 17.
Autor:
Gentile JE; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142., Corridon TL; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142., Mortberg MA; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142., D'Souza EN; Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford OX3 7LF, UK., Whiffin N; Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford OX3 7LF, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Minikel EV; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142., Vallabh SM; McCance Center for Brain Health and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2023 Dec 19. Date of Electronic Publication: 2023 Dec 19.