학술논문
'학술논문'
에서 검색결과 86건 | 목록
1~10
Academic Journal
Lloyd, KC Kent; Adams, David J; Baynam, Gareth; Beaudet, Arthur L; Bosch, Fatima; Boycott, Kym M; Braun, Robert E; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E; Dobbie, Michael S; Flenniken, Ann M; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D; Herault, Yann; de Angelis, Martin Hrabě; Lupski, James R; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F; Murray, Stephen A; Nutter, Lauryl MJ; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve DM
Genome Biology. 21(1)
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Academic Journal
Frésard, Laure; Smail, Craig; Ferraro, Nicole M; Teran, Nicole A; Li, Xin; Smith, Kevin S; Bonner, Devon; Kernohan, Kristin D; Marwaha, Shruti; Zappala, Zachary; Balliu, Brunilda; Davis, Joe R; Liu, Boxiang; Prybol, Cameron J; Kohler, Jennefer N; Zastrow, Diane B; Reuter, Chloe M; Fisk, Dianna G; Grove, Megan E; Davidson, Jean M; Hartley, Taila; Joshi, Ruchi; Strober, Benjamin J; Utiramerur, Sowmithri; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind, Lars; Ingelsson, Erik; Battle, Alexis; Bejerano, Gill; Bernstein, Jonathan A; Ashley, Euan A; Boycott, Kym M; Merker, Jason D; Wheeler, Matthew T; Montgomery, Stephen B
Nature medicine. 25(6)
Academic Journal
Boycott, Kym M; Hartley, Taila; Biesecker, Leslie G; Gibbs, Richard A; Innes, A Micheil; Riess, Olaf; Belmont, John; Dunwoodie, Sally L; Jojic, Nebojsa; Lassmann, Timo; Mackay, Deborah; Temple, I Karen; Visel, Axel; Baynam, Gareth
Cell. 177(1)
Academic Journal
Johnstone, Devon L; Al-Shekaili, Hilal H; Tarailo-Graovac, Maja; Wolf, Nicole I; Ivy, Autumn S; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo WT; Kernohan, Kristin D; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A; Olson, Heather; Sigurdardottir, Laufey Yr; Arnold, Georgianne L; Gerkes, Erica H; Boon, M; Heiner-Fokkema, M Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A; Kamsteeg, Erik-Jan; Drögemöller, Britt; Ross, Colin J; Majewski, Jacek; Cho, Megan T; Begtrup, Amber; Wasserman, Wyeth W; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M; Wevers, Ron A; van Faassen, Martijn; Kema, Ido P; Lepage, Nathalie; Lines, Matthew A; Dyment, David A; Wanders, Ronald JA; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M; Friedman, Jan M; Pena, Izabella A; van Karnebeek, Clara DM
Brain. 142(3)
Academic Journal
Dyke, Stephanie OM; Linden, Mikael; Lappalainen, Ilkka; De Argila, Jordi Rambla; Carey, Knox; Lloyd, David; Spalding, J Dylan; Cabili, Moran N; Kerry, Giselle; Foreman, Julia; Cutts, Tim; Shabani, Mahsa; Rodriguez, Laura L; Haeussler, Maximilian; Walsh, Brian; Jiang, Xiaoqian; Wang, Shuang; Perrett, Daniel; Boughtwood, Tiffany; Matern, Andreas; Brookes, Anthony J; Cupak, Miro; Fiume, Marc; Pandya, Ravi; Tulchinsky, Ilia; Scollen, Serena; Törnroos, Juha; Das, Samir; Evans, Alan C; Malin, Bradley A; Beck, Stephan; Brenner, Steven E; Nyrönen, Tommi; Blomberg, Niklas; Firth, Helen V; Hurles, Matthew; Philippakis, Anthony A; Rätsch, Gunnar; Brudno, Michael; Boycott, Kym M; Rehm, Heidi L; Baudis, Michael; Sherry, Stephen T; Kato, Kazuto; Knoppers, Bartha M; Baker, Dixie; Flicek, Paul
European Journal of Human Genetics. 26(12)
Academic Journal
Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Consortium, Care4Rare Canada; Boycott, Kym M; Geraghty, Michael T
Human Molecular Genetics; Nov2022, Vol. 31 Issue 21, p3597-3612, 16p
Academic Journal
Köhler, Sebastian; Vasilevsky, Nicole A; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M; Boerkoel, Cornelius F; Boycott, Kym M; Brudno, Michael; Buske, Orion J; Chinnery, Patrick F; Cipriani, Valentina; Connell, Laureen E; Dawkins, Hugh JS; DeMare, Laura E; Devereau, Andrew D; de Vries, Bert BA; Firth, Helen V; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jähn, Johanna A; James, Roger; Krause, Roland; Laulederkind, Stanley JF; Lochmüller, Hanns; Lyon, Gholson J; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H; Segal, Michael; Sergouniotis, Panagiotis I; Sever, Richard; Smith, Cynthia L; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke WM; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Züchner, Stephan; Zemojtel, Tomasz; Jacobsen, Julius OB; Groza, Tudor; Smedley, Damian; Mungall, Christopher J; Haendel, Melissa; Robinson, Peter N
Nucleic Acids Research. 45(D1)
Academic Journal
Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Bigio, Marc R Del; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Consortium, Care4Rare Canada; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D
Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p614-624, 11p
Academic Journal
Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion‐Almeida, Maria‐Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair GW; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López‐González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny EV; Pyle, Louise C; Quintero‐Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf‐Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; Center, UCLA Clinical Genomics; de Kamp, Jiddeke M; Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A
Human Mutation. 37(2)
Academic Journal
Philippakis, Anthony A; Azzariti, Danielle R; Beltran, Sergi; Brookes, Anthony J; Brownstein, Catherine A; Brudno, Michael; Brunner, Han G; Buske, Orion J; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie OM; den Dunnen, Johan T; Firth, Helen V; Gibbs, Richard A; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A; Hamosh, Ada; Holm, Ingrid A; Huang, Lijia; Hurles, Matthew E; Hutton, Ben; Krier, Joel B; Misyura, Andriy; Mungall, Christopher J; Paschall, Justin; Paten, Benedict; Robinson, Peter N; Schiettecatte, François; Sobreira, Nara L; Swaminathan, Ganesh J; Taschner, Peter E; Terry, Sharon F; Washington, Nicole L; Züchner, Stephan; Boycott, Kym M; Rehm, Heidi L
Human Mutation. 36(10)
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[AR] Boycott, Kym M
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