Author
Nationwide Children's HospitalORCID 0000-0003-2262-5274Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Anthony R. Miller, James J. Anderson, Maria Elena Hernandez Gonzalez…·Tracy A. Bedrosian
This study uses optical genome mapping to detect somatic structural variants in epilepsy brain tissue, revealing variants missed by short-read sequencing and providing insights into their mechanisms.
Lauren Mashburn‐Warren, Ashton S. Holub, Sahibjot Sran…·Tracy A. Bedrosian
The paper identifies somatic RAS-MAPK pathway activating variants in hippocampal sclerosis patients, linking them to seizure-induced injury and suggesting therapeutic targets.
Harrison Kwei Tsai, Mark F Sabbagh, Meagan Montesion…·Jacob R. Bledsoe
The paper describes a clinicopathologic approach and tools for diagnosing APL with TTMV::RARA fusion using NGS assays, identifying four cases with poor treatment outcomes.
Tracy A. Bedrosian, Katherine E. Miller, Olivia E. Grischow…·Daniel C. Koboldt
The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.
Stephanie LaHaye, James Fitch, Kyle Voytovich…·Peter White
The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.