Author

R. Real

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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. · Bioinformatics Advances · 0 citations

Open access Aug 2026

Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers.

Young onset, less parkinsonism and more cognitive and cortical sensory impairment, along with reduced MRI parietal volumes point to CBS-AD, while limb dystonia, falls and worse verbal fluency relate to CBS-non-AD.

D. Vaughan, M. T. Jensen, R. Real et al. · Brain : a journal of neurolo... · 0 citations