Enrico Bugiardini

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

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

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

Tissue-Specific Dynamics of TCF4 Triplet Repeat Instability Revealed by Optical Genome Mapping

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.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

Cell environment shapes TDP-43 function: implications in neuronal and muscle disease

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

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.