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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.
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with coffin-siris syndrome. Am. J. Hum. Genet. 102, 468-479 (2018)