Russell J. Butterfield

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper uses nanopore sequencing to analyze D4Z4 methylation gradients in FSHD, revealing length-dependent methylation patterns and CpG methylation dynamics in D4Z4 arrays.

The paper develops a high throughput, low-cost method for detecting CTG repeat expansions in DM1 using TP-PCR and melt curve analysis, showing accurate identification of alleles in newborn blood spots.