E-LIB Suche - Ergebnisse für: Poterba, T

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Rare coding variants in ten genes confer substantial risk f..:

Singh, T ; Poterba, T ; Curtis, D...
https://discovery.ucl.ac.uk/id/eprint/10147248/2/2022-01-19_schema-supplementary-information-publication.pdf. , 2022

Link: https://discovery.ucl.ac..

Author Correction: Evaluating drug targets through human lo..:

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C...
Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, J., Trembath, Richard C., van Heel, David A., Daly, Mark J., Alföldi, J., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, Beryl B., Daly, Mark J., Donnelly, S., Farjoun, Y., Ferriera, S., Francioli, L., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Karczewski, Konrad J., Laricchia, K.M., Llanwarne, C., Minikel, Eric Vallabh, Munshi, R., Neale, B.M., Novod, S., O'Donnell-Luria, A.H., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, Nicola, Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugeri.... , 2021

Link: https://scholarbank.nus...

Author Correction: Characterising the loss-of-function impa..:

Whiffin, Nicola ; Karczewski, Konrad J ; Zhang, Xiaolei...
Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, J., O'Donnell-Luria, A.H., Francioli, Laurent C., Armean, Irina M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, Carlos A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bot.... , 2021

Link: https://scholarbank.nus...

Author Correction: Landscape of multi-nucleotide variants i..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B...
Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, J., Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O'Donnell-Luria, A.H., Armean, Irina M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, Carlos A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen,.... , 2021

Link: https://scholarbank.nus...

Author Correction: The mutational constraint spectrum quant..:

Karczewski, KJ ; Francioli, LC ; Tiao, G...
Nature. , 2021

Link: http://hdl.handle.net/10..

The mutational constraint spectrum quantified from variatio..:

Gudmundsson, S ; Karczewski, KJ ; Francioli, LC...
Nature. , 2020

Link: http://hdl.handle.net/10..

Characterising the loss-of-function impact of 5' untranslat..:

Whiffin, N ; Karczewski, K.J ; Zhang, X...
Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G., Roberts, A.M., Quaife, N.M., Schafer, S., Rackham, O., Alföldi, J., Hultman, C.M., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Francioli, L.C., Barnard, J., Kallela, M., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., McCarroll, S., Chan, J.C., Chasman, D., Kaprio, J., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., McCarthy, M.I., Duggirala, R., Dupuis, J., Ellinor, P.T., Kathiresan, S., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., McGovern, D., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Kim, B.-J., Glatt, S.J., Goldstein, D., Gon.... , 2020

Link: https://scholarbank.nus...

Large-Scale Exome Sequencing Study Implicates Both Developm..:

Satterstrom, F Kyle ; Kosmicki, Jack A ; Wang, Jiebiao...
info:eu-repo/semantics/altIdentifier/pmid/31981491. , 2020

Link: http://hdl.handle.net/23..

Landscape of multi-nucleotide variants in 125,748 human exo..:

Wang, Q ; Pierce-Hoffman, E ; Cummings, B.B...
Wang, Q., Pierce-Hoffman, E., Cummings, B.B., Alföldi, J., Francioli, L.C., Gauthier, L.D., Hill, A.J., O'Donnell-Luria, A.H., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Darb.... , 2020

Link: https://scholarbank.nus...