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Author

M. Montero-Hernández

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Open access Sep 2026

Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells.

Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. We present an updated Clinical Nanopore Cas9-Targeted Sequencing (Clin-CA...

Veronika Scholz, Veronika Schönrock, Hannes Erdmann et al. · 0 citations
Case report Open access Jul 2026

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry

Plasma biochemistry often presents significant limitations in diagnosing borderline metabolic disorders, particularly within complex neurodevelopmental phenotypes. Here, we present the clinical genomic evaluation of a six-year patient presenting with early-onset hypotonia and severe gastrointestinal complications whose...

Claudia Toledo-Pacheco, M. Montero-Hernández, María-Pilar López-Garrido et al. · 0 citations

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