James J. Anderson

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue

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.

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsy

The paper identifies somatic RAS-MAPK pathway activating variants in hippocampal sclerosis patients, linking them to seizure-induced injury and suggesting therapeutic targets.

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy

This study identifies disrupted O-GalNAc glycosylation as a mechanism and biomarker for SLC35A2-associated epilepsy using mouse models and human tissue analysis.