Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature

BackgroundHao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by pathogenic variants in the USP7 gene. This condition is associated with a distinct DNA methylation episignature that aids its diagnosis. While microarray-based methods have traditionally been used to detect thes...

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Bibliografiske detaljer

Principais autores:	Liselot van der Laan, Martin A. Haagmans, Andrea Venema, Jennifer Kerkhof, Michael A. Levy, Silvana Briuglia, Pilar Caro, Sebastian Sailer, Christian P. Schaaf, Bekim Sadikovic, Mieke M. van Haelst, Mariëlle van Gijn, Mariëlle Alders, Peter Henneman
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2026-01-01
Serier:	Frontiers in Genetics
Fag:	DNA methylation episignature Hao-Fountain syndrome nanopore USP7
Online adgang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1730165/full
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