Matt Christopher Danzi

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

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

The paper analyzes pentanucleotide tandem repeats in human genomes using long-read sequencing, revealing extensive variability and evolutionary origins.

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

The paper introduces a new TR catalog, TRExplorer v1.0, containing 4.86 million loci, designed for both short-read and long-read analyses and includes variation clusters identified using long-read HiFi data.

RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.

This study identifies circadian rhythms as a key regulator of axonal regenerative ability in DRG neurons, showing that clock genes like Bmal1 are essential for regeneration and that chrono-active drugs like lithium can enhance nerve repair.

The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.

The paper introduces TRGT, a tool for tandem repeat genotyping, and a database of 937,122 TRs across 100 genomes, achieving high concordance and detecting repeat expansions, methylation, and mosaicism.

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

The paper investigates mutagenesis in early embryos of Xenopus and Drosophila, showing that translesion DNA synthesis (TLS) driven by Rad18 contributes to high mutation rates.

The paper identifies PP4-dependent HDAC3 dephosphorylation as a mechanism distinguishing axonal regeneration from regenerative failure in nerve injuries.