Peter B. Kang

This study investigates JAG2-related muscular dystrophy by examining the role of Notch signaling in muscle stem cells, finding that JAG2 variants disrupt both autocrine and paracrine Notch signaling, impairing muscle regeneration.

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

This study compares AAV-DJ and AAV9 for CNS targeting and off-target effects in mice across different delivery routes, finding AAV-DJ superior for CNS and reduced liver/kidney transduction.

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

This study investigates the effects of HMGCR deficiency on skeletal muscle development through genetic knockdown in mice and Drosophila, revealing shared mechanisms in three HMGCR-related muscle diseases.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.