Tanya Stojkovic

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

This study shows CCG interruptions in DM1 are unstable and hypermethylated, contributing to CTG repeat stabilization.

The paper develops an amplification-free long-read sequencing method using CRISPR/Cas9 to accurately measure CTG repeat expansions in DM1 patients, identifying a CCG-enriched expanded allele.

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

This study identifies Metformin as a potential therapy for BAG3 myofibrillar myopathy by rescuing muscle function in zebrafish models and reducing protein aggregates in human cells.