Large-Scale EHR-Based Phenotyping of an FMR1 Premutation Cohort at a Referral Hospital
Aadil Rasheed, Jonas Ebner, Akhyar Ahmed, Lothar H. Wieler, Girish N. Nadkarni, Reymundo Lozano, Esther-Maria Antão
This study uses EHR data to characterize FMR1 premutation carriers, identifying common diagnoses before mutation confirmation and highlighting diagnostic delays.
medRxiv · Sep 8, 2026 · PreprintGenetic & Genomic Medicine