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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.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)
3.
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)
4.
Bramswig, N.C.* et al.: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)
5.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
6.
Shashi, V.* et al.: Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J., accepted (2018)
7.
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)