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This study benchmarks RNA-seq tools for diagnostic applications, finding they identify 28 diagnoses from 68 samples but only 9 out of 74 undiagnosed cases.

This study shows that the D2-mdx mouse model exhibits juvenile-onset cardiac damage due to unresolved inflammation, and pro-resolution therapy can mitigate fibrotic degeneration.

The paper reports two patients with NEB-related congenital myopathy and describes how differential inclusion of NEB exons 143 and 144 affects disease manifestation and MRI patterns.

This study uses allele-specific CRISPR/Cas9 to inactivate a pathogenic variant in COL6A1, showing improved editing efficiency and collagen VI matrix restoration in patient fibroblasts.

The paper introduces a long-read RNA-seq analysis approach that identifies and quantifies novel transcripts of very large genes, revealing differential exon usage and phasing across muscle types.

The paper investigates the role of L-arginine in NAGS activation and ureagenesis by studying NAGS knockout mice and a human patient with a related mutation.

The paper introduces Iso-Seq Browser, a tool for interactive analysis of long-read RNA sequencing data, enabling visualization and exploration of gene isoforms.