日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

亨廷顿病 LIG1 修饰基因变体可提高连接酶的保真度并抑制体细胞 CAG 重复序列扩增。

Lee, Eunhye; Kim, Wonju; Beier, David H; Lee, Yejin; Kovalenko, Marina; Saif, Faaiza; Oliver, Esaria; Srinageshwar, Bhairavi; Murtha, Ryan; Andrew, Marissa A; Jiang, Andrew; Gillis, Tammy; Demelo, Brigitte; Ruliera, Jayla; Lucente, Diane; Kwak, Seung; Lee, Ramee; Pinto, Ricardo Mouro; MacDonald, Marcy E; Gusella, James F; O'Brien, Patrick J; Wheeler, Vanessa C; Seong, Ihn Sik

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

亨廷顿病 LIG1 修饰变体可提高连接酶的保真度并抑制体细胞 CAG 重复扩增

Lee Eunhye, Kim Wonju, Beier David H, Lee Yejin, Kovalenko Marina, Saif Faaiza, Oliver Esaria, Murtha Ryan, Andrew Marissa A, Gillis Tammy, Demelo Brigitte, Srinageshwar Bhairavi, Ruliera Jayla, Lucente Diane, Kwak Seung, Lee Ramee, Pinto Ricardo Mouro, MacDonald Marcy E, Gusella James F, O'Brien Patrick J, Wheeler Vanessa C, Seong Ihn Sik

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

与人类先天性异常相关的平衡细胞遗传学异常的基因组图谱

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E