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Author

S. G. Riva

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#gene editing Open access Oct 2026

Single-allele nanoscale mapping of regulatory variants

Millions of genetic variants are linked to human disease but identifying underlying mechanisms is challenging because most variants are noncausal and lie within the noncoding genome. We developed a Micro Capture-C variant-to-function platform (MCCv) based on analysis of single-allele chromatin structure. This can ident...

Joseph C. Hamley, Wei-Jiao Zhang, Daniel Willmott et al. · 0 citations
Open access Sep 2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Patient iPSC-differentiated NCC and OPC lines, combined with TAD-based modelling to generate testable functional hypotheses, provide valuable functional evidence when evaluating causation of unique SV/CNV in craniosynostosis.

D. Korona, Akiko Hashimoto, Yang Pei et al. · 0 citations

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