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M. T. Periñán

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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. · 0 citations
Open access Jul 2026

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort.

Burden analysis showed no association between rare variants in DNAJC13 and PD, however, association analysis within common nonsynonymous variants nominated five variants within DNAJC13, and these associations require further investigation.

C. Avila, M. Isayan, Y. Mecheri et al. · 0 citations
Aug 2026

GCH1 genetic variation as a prognostic factor in Parkinson disease across populations

GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.

J. Shin, M. T. Periñán, J. W. Jang et al. · 0 citations

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