Publications by authors named "Steven Robert DePalma"
Genet Med Open
January 2024
Article Synopsis
- - The study focuses on Facioscapulohumeral dystrophy type 1 (FSHD1), a serious muscle disorder, and emphasizes the need for a comprehensive approach to understand its genetics.
- - Researchers conducted genome sequencing and linkage analysis in a family suspected of having FSHD1, identifying a specific disease locus on chromosome 4q35.2.
- - By using advanced ultra-long-read genome sequencing, they successfully genotyped a pathogenic allele associated with FSHD1, highlighting the effectiveness of these genomic tools in disease mapping and characterization.
