Antisense oligonucleotides: A primer

por Scoles, Daniel R., Minikel, Eric V., Pulst, Stefan M.
Publicado 2019

ClinVar data parsing

por Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
Publicado 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

por Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh
Publicado 2017

The effect of LRRK2 loss-of-function variants in humans

por Whiffin, Nicola, Armean, Irina M., Kleinman, Aaron, Marshall, Jamie L., Minikel, Eric V., Goodrich, Julia K., Quaife, Nicholas M., Cole, Joanne B., Wang, Qingbo, Karczewski, Konrad J., Cummings, Beryl B., Francioli, Laurent, Laricchia, Kristen, Guan, Anna, Alipanahi, Babak, Morrison, Peter, Baptista, Marco A. S., Merchant, Kalpana M., Ware, James S., Havulinna, Aki S., Iliadou, Bozenna, Lee, Jung-Jin, Nadkarni, Girish N., Whiteman, Cole, Daly, Mark, Esko, Tõnu, Hultman, Christina, Loos, Ruth J. F., Milani, Lili, Palotie, Aarno, Pato, Carlos, Pato, Michele, Saleheen, Danish, Sullivan, Patrick F., Alföldi, Jessica, Cannon, Paul, MacArthur, Daniel G.
Publicado 2020

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2018

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2019

Analysis of protein-coding genetic variation in 60,706 humans

por Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G
Publicado 2016