De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Baralle, D; Blair, EM; Engels, H;

Brunner, HG (reprint author), Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands.; Wilkie, AOM (reprint author), Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Clin Genet G

AMERICAN JOURNAL OF HUMAN GENETICS, 2018; 102 (6): 1195

Abstract

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identific......

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