Robert William Taylor

RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo

Abstract Pathogenic, bi-allelic variants in RMND1 typically manifest as an early-onset multisystemic mitochondrial disease, yet the consequences of RMND1 dysfunction in vivo remain poorly understood. To answer this question, we generated and characterized the first in vivo model...

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Revised ACGS variant classification guidelines 2026.