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Author

Han G. Brunner

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Open access Aug 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.

Milou G. P. Kennis, Leenke van Haaften, Karen van Hulst et al. · 0 citations
Open access Jul 2026

Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects

Base editing derived cell models shed light on the role of ciliary dynein complex components for intraflagellar transport, hedgehog signaling and differential regulation of genes associated with Golgi intracellular transport using human disease alleles.

Dinu Antony, Elif Yilmaz Güleç, A. Klawonn et al. · 0 citations