Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Donnelly, Stacey"'
Autor:
Amit, Ido, Ardlie, Kristin, Arzuaga, Fabiana, Awandare, Gordon, Bader, Gary, Bernier, Alexander, Carninci, Piero, Donnelly, Stacey, Eils, Roland, Forrest, Alistair R. R., Greely, Henry T., Guigo, Roderic, Hacohen, Nir, Haniffa, Muzlifah, Kirby, Emily Sarah, Knoppers, Bartha Maria, Kriegstein, Arnold, Lein, Ed S., Linnarsson, Sten, Majumder, Partha P.
Publikováno v:
Nature Communications; 11/20/2024, Vol. 15 Issue 1, p1-7, 7p
Autor:
Lawson, Jonathan, Cabili, Moran N., Kerry, Giselle, Boughtwood, Tiffany, Thorogood, Adrian, Alper, Pinar, Bowers, Sarion R., Boyles, Rebecca R., Brookes, Anthony J., Brush, Matthew, Burdett, Tony, Clissold, Hayley, Donnelly, Stacey, Dyke, Stephanie O.M., Freeberg, Mallory A., Haendel, Melissa A., Hata, Chihiro, Holub, Petr, Jeanson, Francis, Jene, Aina, Kawashima, Minae, Kawashima, Shuichi, Konopko, Melissa, Kyomugisha, Irene, Li, Haoyuan, Linden, Mikael, Rodriguez, Laura Lyman, Morita, Mizuki, Mulder, Nicola, Muller, Jean, Nagaie, Satoshi, Nasir, Jamal, Ogishima, Soichi, Ota Wang, Vivian, Paglione, Laura D., Pandya, Ravi N., Parkinson, Helen, Philippakis, Anthony A., Prasser, Fabian, Rambla, Jordi, Reinold, Kathy, Rushton, Gregory A., Saltzman, Andrea, Saunders, Gary, Sofia, Heidi J., Spalding, John D., Swertz, Morris A., Tulchinsky, Ilia, van Enckevort, Esther J., Varma, Susheel, Voisin, Craig, Yamamoto, Natsuko, Yamasaki, Chisato, Zass, Lyndon, Guidry Auvil, Jaime M., Nyrönen, Tommi H., Courtot, Mélanie
Publikováno v:
In Cell Genomics 10 November 2021 1(2)
Autor:
Cabili, Moran N., Lawson, Jonathan, Saltzman, Andrea, Rushton, Greg, O’Rourke, Pearl, Wilbanks, John, Rodriguez, Laura Lyman, Nyronen, Tommi, Courtot, Mélanie, Donnelly, Stacey, Philippakis, Anthony A.
Publikováno v:
In Cell Genomics 10 November 2021 1(2)
Akademický článek
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Autor:
Bell, Suzanne, Coulson, Arlene, Donnelly, Stacey, Henderson, Colette, Hodgson, Alison, Rolfe, Sandy
Publikováno v:
Journal of Prescribing Practice; Oct2022, Vol. 4 Issue 10, p432-439, 8p
Autor:
Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J.
Publikováno v:
E53
Nature
Nature
In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3724f1e404364fb3e3ce0a1800184647
https://eprints.soton.ac.uk/468340/
https://eprints.soton.ac.uk/468340/
Autor:
Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, O’Donnell-Luria, Anne H., Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen
Publikováno v:
Nature
Minikel, E V, Karczewski, K J, Martin, H C, Cummings, B B, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, R C, van Heel, D A, Daly, M J, Alföldi, J, Armean, I M, Banks, E, Bergelson, L, Cibulskis, K, Collins, R L, Connolly, K M, Covarrubias, M, Cummings, B B, Daly, M J, Donnelly, S, Farjoun, Y, Ferriera, S, Francioli, L, Gabriel, S, Gauthier, L D, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Karczewski, K J, Laricchia, K M, Llanwarne, C, Minikel, E V, 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 2020, ' Evaluating drug targets through human loss-of-function genetic variation ', Nature, vol. 581, no. 7809, pp. 459-464 . https://doi.org/10.1038/s41586-020-2267-z
Minikel, E V, Karczewski, K J, Martin, H C, Cummings, B B, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, R C, van Heel, D A, Daly, M J, Alföldi, J, Armean, I M, Banks, E, Bergelson, L, Cibulskis, K, Collins, R L, Connolly, K M, Covarrubias, M, Cummings, B B, Daly, M J, Donnelly, S, Farjoun, Y, Ferriera, S, Francioli, L, Gabriel, S, Gauthier, L D, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Karczewski, K J, Laricchia, K M, Llanwarne, C, Minikel, E V, 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 2020, ' Evaluating drug targets through human loss-of-function genetic variation ', Nature, vol. 581, no. 7809, pp. 459-464 . https://doi.org/10.1038/s41586-020-2267-z
Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ce474477054ef9d4f8493d4843adc8
http://hdl.handle.net/10138/325140
http://hdl.handle.net/10138/325140
Autor:
Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
Publikováno v:
Nature
The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c686e36d46187245db7b242ea0302305
https://trepo.tuni.fi/handle/10024/128032
https://trepo.tuni.fi/handle/10024/128032
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, 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, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications
Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600861d7e3be0798966d620f7d7daf26
http://hdl.handle.net/10044/1/79435
http://hdl.handle.net/10044/1/79435