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1.
Reijnders, M.R.F.* et al.: De novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. Am. J. Hum. Genet. 102, 1195-1203 (2018)
2.
Oud, M.M.* et al.: Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281-296 (2017)
3.
Wilde, A.A.* et al.: Clinical aspects of type 3 long QT syndrome: An international multicenter study. Circulation 134, 872-882 (2016)
4.
Boczek, N.J.* et al.: Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome. Circ. Res. 115, 460-469 (2014)