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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.
Lessel, D.* et al.: De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder. Am. J. Hum. Genet. 101, 716-724 (2017)
3.
Martin, S.* et al.: De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities. Am. J. Hum. Genet. 101, 1013-1020 (2017)
4.
Platzer, K.* et al.: GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54, 460-470 (2017)