Rory James Tinker

The paper develops a scalable framework to generate harmonized mtDNA datasets from existing sequencing data across biobanks, enabling population-scale mitochondrial genomics without new sequencing.

ArchSpiral is an iPad app that digitizes a motor assessment task, showing strong agreement with paper-based scores and providing quantitative metrics for rare disease research.

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

This study identifies diagnostic delay in mitochondrial disease as primarily due to missed recognition of canonical features, not testing limitations, and suggests AI/NLP tools for earlier detection.

This study quantifies the expansion of clinical genetic testing at Vanderbilt University Medical Center from 2002 to 2022, showing increased testing rates, broader disease coverage, and a growing number of variants of uncertain significance.

The paper develops an EHR-based model to study the diagnostic trajectory of Mendelian disorders and finds that phenotypic features are often documented after clinical suspicion, a phenomenon termed phenotypic convergence.