Author

Soraya Bardien

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Open access Oct 2026

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

INTRODUCTION GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. OBJECTIVES Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant. METHODS We first identified a segregating GCH1 p.Ser80Asn variant in...

Yi-Wen Tay, A. Lee, J. Schee et al. · Movement Disorders · 0 citations

Open access Jul 2026

CNV-Finder: streamlining copy number variation discovery

Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...

Nicole Kuznetsov, Kensuke Daida, M. Makarious et al. · Bioinformatics Advances · 0 citations