Author
University of Utah
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
Russell J. Butterfield, Diane Marie Dunn, Brett Duval…·Robert B. Weiss
The paper uses nanopore sequencing to analyze D4Z4 methylation gradients in FSHD, revealing length-dependent methylation patterns and CpG methylation dynamics in D4Z4 arrays.
Kevin M. Flanigan, Megan A. Waldrop, Paul T. Martin…·Veronica J. Vieland
This paper conducts a genome-wide association study to identify genetic modifiers of disease severity in dystrophinopathy patients, finding multiple candidate loci associated with age at loss of ambulation.
Kevin M. Flanigan, Megan A. Waldrop, Paul T. Martin…·Robert B. Weiss
The paper applies functional genomic datasets to six top GWAS loci to identify candidate gene modifiers of dystrophinopathy severity.
Russell J. Butterfield, Carina E. Imburgia, Katie Mayne…·Robert B. Weiss
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.