Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

著者: André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond, Britt I. Drögemöller, Mahmoud A. Pouladi, René Leen, Koroboshka Brand‐Arzamendi, Doreen Dobritzsch, Egor Dolzhenko, Michael A. Eberle, Bruce E. Hayward, Meaghan J. Jones, Farhad Karbassi, Michael S. Kobor, Janet Koster, Daman Kumari, Meng Li, Julia L. MacIsaac, Cassandra McDonald, Judith Meijer, Charlotte Nguyen, Indhu‐Shree Rajan‐Babu, Stephen W. Scherer, Bernice Sim, Brett Trost, Laura A. Tseng, Marjolein Turkenburg, Joke J.F.A. van Vugt, Jan H. Veldink, Jagdeep S. Walia, Youdong Wang, Michel van Weeghel, Galen E.B. Wright, Xiaohong Xu, Ryan K. C. Yuen, Jinqiu Zhang, Colin J.D. Ross, Wyeth W. Wasserman, Michael T. Geraghty, Saikat Santra, Ronald J. A. Wanders, Xiao‐Yan Wen, Hans R. Waterham, Karen Usdin, Clara D. van Karnebeek - New England Journal of Medicine, NEJM 2019 被引用: 105

repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.