A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

作者：David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Jayakumar Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, André Nussenzweig, Марек Напиерала, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Emily M. Bateman, Chelsea Berngruber, Fabio Cunial, Colleen P. Davis, Huyen Dinh, HarshaVardhan Doddapaneni, Kim Kopenhaver Doheny, Shannon Dugan‐Perez, Tara Dutka, Evan E. Eichler, Philip E. Empey, Sarah Fazal, Chris D. Frazar, Kiran V. Garimella, Jessica Gearhart, Richard C. Gibbs, Jane Grimwood, Namrata Gupta, Salina K. Hall, Yi Han, William T. Harvey, Jess Hosea, PingHsun Hsieh, Jianhong Hu, Yongqing Huang, James C. M. Hwang, Michal Izydorczyk, Hyeonsoo Jeong, Ziad Khan, Sarah Kirkpatrick, Michelle Kokosinski, Sam Kovaka, Edibe Nehir Kurtas, Rebecca Lakatos, Emily L. LaPlante, Samuel K. Lee, Niall J. Lennon, Shawn Levy, Qiuhui Li, Lee Lichtenstein, Glennis A. Logsdon, Chris J. Lord, Ryan Lorig-Roach, Medhat Madmoud, Anant Maheshwari, Beth A. Marosy, Heer H. Mehta, Ginger Metcalf, David W. Mohr, Carolina Montaño, Luke B Morina, Yulia Mostovoy, Anjene Musick, Donna Marie Muzny, Shane J. Neph, Justin E. Paschall, Karynne Patterson, A. Pionzio, David Porubskỳ, Nripesh Prasad, Allison N. Rozanski, Alba Sanchis-Juan, Michael C. Schatz, Sophie Schwartz, Alan F. Scott, Adriana Estela Sedeño-Cortés, Fritz Joachim Sedlazeck, Tristan S. Shaffer, Hua Min Shen, Beri Shifaw, Joshua D. Smith, Natthapon Soisangwan, Andrew B. Stergachis, Hang Su, Michael E. Talkowski, Winston Timp, Vanesa Vee, Evie Wan, Yuanyuan Wang, George Weissenberger, Julie H. Wertz, Marsha M. Wheeler, Christopher W. Whelan, DongAhn Yoo, Shadi Zaheri, Xinchang Zheng, Yiming Zhu, Michelle Zilka, Bernard Brais, Stephan L. Zuchner, Matt Christopher Danzi · 发表于：Nature Genetics · 年份：2024 · DOI：10.1038/s41588-024-01808-5 · 被引用次数：37 · 研究领域：Fibroblast Growth Factor Research、Connective tissue disorders research、Genetic Syndromes and Imprinting