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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-01-01
Edice:	Frontiers in Genetics
Témata:	DNA methylation episignature Hao-Fountain syndrome nanopore USP7
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1730165/full
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!