Variants of uncertain significance (VUS) represent a major barrier to diagnosis in rare diseases. Functional evidence is critical for variant classification under ACMG/AMP guidelines, yet most functional tests lack scalability and standardisation, making them unsuitable for implementation in diagnostic labs. We developed an untargeted mass spectrometry-based proteomics pipeline that quantifies proteins encoded by >50% of mendelian disease genes in clinically relevant specimens, including fibroblasts, skeletal muscle, and peripheral blood mononuclear cells. 1
Building similarity graph...
Analyzing shared references across papers
Loading...
Daniella H. Hock
Liana N. Semcesen
Nikeisha J. Caruana
Pathology
Building similarity graph...
Analyzing shared references across papers
Loading...
Hock et al. (Sun,) studied this question.
www.synapsesocial.com/papers/699a534bfdaf4e3c1268eeff — DOI: https://doi.org/10.1016/j.pathol.2026.01.227
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: