Author

A. Maver

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Open access Oct 2026

The landscape of structural variants in male infertility identified by optical genome mapping

We aimed to determine what kind of structural genomic variants can be detected by optical genome mapping in patients with male infertility and whether such variants may contribute to male infertility. We performed a longitudinal case/control genetic study on patients with male infertility, negative for cytogenetic...

Anja Kovanda, A. Hodzic, U. Kotnik et al. · Scientific Reports · 0 citations

Open access Sep 2026

Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study

Objective This study aimed to assess the diagnostic yield, clinical indications, and utility of next-generation sequencing (NGS) testing since its implementation through collaboration between the University of Rijeka Faculty of Medicine and the Clinical Hospital Centre Rijeka. Materials and Methods This retrospective s...

N. Pereza, Sanja Dević Pavlić, Tea Mladenić et al. · Frontiers in Genetics · 0 citations

Open access Aug 2026

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

Background and Objectives The aim of this study was to present a case report of the first familial case of multiple sclerosis (MS) in an X-linked Charcot-Marie-Tooth family with a novel variant in GJB1. Methods Clinical, neurophysiologic, neuroimaging, and genetic assessments were performed on 9 affected members of a l...

Marija Menih, Tanja Hojs Fabjan, A. Maver et al. · Neurology: Genetics · 0 citations