Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>
André B. P. Kuilenburg(Emma Kinderziekenhuis), Maja Tarailo‐Graovac(University of Ottawa), Phillip A. Richmond(Amsterdam University Medical Centers), Britt I. Drögemöller(Amsterdam University Medical Centers), Mahmoud A. Pouladi(Agency for Science, Technology and Research), René Leen(Emma Kinderziekenhuis), Koroboshka Brand‐Arzamendi(St. Michael's Hospital), Doreen Dobritzsch(Uppsala University), Egor Dolzhenko(Illumina (United States)), Michael A. Eberle(Illumina (United States)), Bruce E. Hayward(National Institutes of Health), Meaghan J. Jones(Amsterdam University Medical Centers), Farhad Karbassi(St. Michael's Hospital), Michael S. Kobor(Amsterdam University Medical Centers), Janet Koster(Emma Kinderziekenhuis), Daman Kumari(National Institutes of Health), Meng Li(St. Michael's Hospital), Julia L. MacIsaac(Amsterdam University Medical Centers), Cassandra McDonald(Amsterdam University Medical Centers), Judith Meijer(Emma Kinderziekenhuis), Charlotte Nguyen(Hospital for Sick Children), Indhu‐Shree Rajan‐Babu(Amsterdam University Medical Centers), Stephen W. Scherer(Hospital for Sick Children), Bernice Sim(Agency for Science, Technology and Research), Brett Trost(Hospital for Sick Children), Laura A. Tseng(Emma Kinderziekenhuis), Marjolein Turkenburg(Emma Kinderziekenhuis), Joke J.F.A. van Vugt(University Medical Center Utrecht), Jan H. Veldink(University Medical Center Utrecht), Jagdeep S. Walia(University of Ottawa), Youdong Wang(St. Michael's Hospital), Michel van Weeghel(Emma Kinderziekenhuis), Galen E.B. Wright(Amsterdam University Medical Centers), Xiaohong Xu(Agency for Science, Technology and Research), Ryan K. C. Yuen(Hospital for Sick Children), Jinqiu Zhang(Agency for Science, Technology and Research), Colin J.D. Ross(Amsterdam University Medical Centers), Wyeth W. Wasserman(Amsterdam University Medical Centers), Michael T. Geraghty(University of Ottawa), Saikat Santra(Birmingham Children's Hospital), Ronald J. A. Wanders(Emma Kinderziekenhuis), Xiao‐Yan Wen(St. Michael's Hospital), Hans R. Waterham(Emma Kinderziekenhuis), Karen Usdin(National Institutes of Health), Clara D. van Karnebeek(Emma Kinderziekenhuis)
Cited by 105Open Access
Abstract
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.
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