Maria Rosaria D’Apice

Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2

The paper validates long-read sequencing methods for analyzing repeat expansions in DM2, identifying new repeat motifs and improving bioinformatic workflows.

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

This study characterizes full-length CNBP repeat expansions in DM2 patients using Cas9-mediated nanopore sequencing, revealing novel repeat patterns and mosaicism.

No evidence for allelic association between Covid-19 and ACE2 genetic variants by direct exome sequencing in 99 SARS-CoV-2 positive patients

The paper analyzes ACE2 genetic variants in 99 COVID-19 patients using whole-exome sequencing and finds no allelic association with disease severity or sex bias.