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1.
Blok, L.S.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:883 (2019)
2.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:2079 (2019)
3.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat. Commun. 9:4619 (2018)
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)
5.
de Kovel, C.G.F.* et al.: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010)