Author
Icahn School of Medicine at Mount SinaiORCID 0000-0002-4527-1264Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Daniel R. Schecter, Simon SzeKing Lee, Tushar Vimal…·Lea Karatheodoris Davis
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.
Rory James Tinker, Neil Jacob, Mohammad Ghouse Syed…·Éva Morava
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.
Bryn D. Webb, Sara M. Nowinski, Ashley Solmonson…·Sander M. Houten
The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.