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Author

Markus Schuelke

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Review Open access Oct 2026

Chromodomain Helicase DNA-Binding Domain 8 (CHD8) related neurodevelopmental disorder with overgrowth: a case series and a systematic literature review on neuroradiological findings

Chromodomain Helicase DNA-Binding Domain 8 (CHD8)-Related Neurodevelopmental Disorder with Overgrowth is a rare disorder, with approximately 120 cases reported to date. First, we report six cases that presented to our hospitals with intellectual disability, autism spectrum disorder and overgrowth and one related person...

L. Zerweck, Kathrin Grundmann-Hauser, C. Kehrer et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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