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Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissueAnthony R Miller, James J Anderson, Maria Elena Hernandez Gonzalez, et al.
Nature Medicine|October 5, 2021
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissueGretchen Thomsen, Arthur H M Burghes, Caroline Hsieh, et al.
Genes, Chromosomes & Cancer|June 18, 2022
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based reviewFlavia Watusi De Faria, Kathleen M Schieffer, Christopher R Pierson, et al.
Brain : a Journal of Neurology|May 28, 2021
PTEN somatic mutations contribute to spectrum of cerebral overgrowthDaniel C Koboldt, Katherine E Miller, Anthony R Miller, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsyLauren Mashburn-Warren, Ashton Holub, Sahibjot Sran, et al.
Frontiers in Oncology|August 1, 2022
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ InvolvementKatherine E Miller, Gregory Wheeler, Stephanie LaHaye, et al.
Neurology. Genetics|July 9, 2020
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissueKatherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Brain Pathology (Zurich, Switzerland)|July 7, 2016
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcomePascal D Johann, Volker Hovestadt, Christian Thomas, et al.
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