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A. Abicht

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Open access Sep 2026

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

An updated Clinical Nanopore Cas9-Targeted Sequencing (Clin-CATS) workflow for analyzing repeat expansions, now compatible with the Oxford Nanopore Technologies R10 flow cell, and explores the use of multiplexing, Flongle flow cells, and single-gene targeting as alternatives to panel-based approaches, finding that only...

Veronika Scholz, Veronika Schönrock, Hannes Erdmann et al. · 0 citations
Open access Aug 2026

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

D. Muhmann, G. Haliloglu, M. A. Grimalt et al. · 0 citations

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