John Burian

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

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.

Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci

The paper applies functional genomic datasets to six top GWAS loci to identify candidate gene modifiers of dystrophinopathy severity.