Search Results - Hill, Joanne W

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

    Published in Nature (London)
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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

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