Author

Matthew G. Sampson

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Open access Oct 2026

The landscape of allele-specific expression in human kidneys

Allele-specific expression (ASE), the preferential expression of one gene copy, is a key mechanism of genomic regulation. However, its role in human kidney disease remains poorly understood. In this study, we generated a high-quality, genome-wide ASE map using paired whole-genome sequencing and RNA sequencing from micr...

Ana C. Onuchic-Whitford, Jun-Mo Sung, Eric D. Sakkas et al. · Science Advances · 0 citations

Review Open access Aug 2026

Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.

BACKGROUND Despite the growing role of genetic testing in pediatric kidney disease, translating genomic findings into clinical care remains challenging due to limited kidney genetics expertise and infrastructure. Specialized kidney genetics clinics may optimize both testing strategies and clinical application, though o...

Bree E Martin, M. Meserve, C. N. Frank et al. · Kidney360 · 0 citations