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L. Kleinendorst

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Open access Sep 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....

C. Pailler-Pradeau, M. Lemée, Caterina Cevallos et al. · 0 citations

ORIGINAL INVESTIGATION

These findings define and validate a distinct DNAm episignature for WSKA, providing a valuable diagnostic biomarker to sup - port variant classification and offering insight into the epigenomic consequences of ZNF462 haploinsufficiency.

H. McConkey, Liselot van der Laan, Peter Henneman et al. · 0 citations

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