Robert B. Weiss

Human and zebrafish data corroborate gene x gene interactions in ameliorating Duchenne muscular dystrophy disease progression

The paper investigates gene-gene interactions in Duchenne muscular dystrophy using human and zebrafish data, finding interaction effects for six gene pairs and rescue of muscle organization in zebrafish for MAN1A1 and ACTN3.

Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

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

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.

High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis

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.