Andrea Cortese

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

This study shows that AAGGG repeat expansions cause synaptic defects in CANVAS neurons independently of RFC1, with phenotypes corrected by repeat deletion.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

The paper uses optical genome mapping to analyze tissue-specific instability of the CTG18.1 triplet repeat in FECD, finding higher instability in corneal endothelial cells than in blood leukocytes.

The paper develops a whole genome sequencing method to detect RFC1 repeat expansions, improving diagnostic rates and simplifying the workflow for cerebellar ataxia diagnosis.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.