Guo MH, Hirschhorn JN, Dauber A. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab. 2018;103(9):3155-3168. doi:10.1210/jc.2018-01126
Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018;39(8):1126-1138. doi:10.1002/humu.23557
Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013;162(1):202-4.e1. doi:10.1016/j.jpeds.2012.07.055
Park J, Welner RS, Chan MY, et al. The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining. J Immunol. 2016;196(1):244-55. doi:10.4049/jimmunol.1403099