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Pediatric Transplantation|June 17, 2014
Novel protocol including liver biopsy to identify and treat CD8+ T-cell predominant acute hepatitis and liver failureRebecca B McKenzie, William E Berquist, Kari C Nadeau, et al.Pediatric Neurology|August 17, 2017
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2Colin Wilbur, Sarah E Buerki, Ilaria Guella, et al.Neurology. Genetics|November 23, 2016
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B McKenzie, et al.American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.The Lancet. Neurology|October 4, 2016
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association studyJoanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, et al.Frontiers in Neurology|June 6, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset EpilepsyMichelle Demos, Ilaria Guella, Conrado DeGuzman, et al.Journal of Neurotrauma|May 3, 2018
National Institute of Neurological Disorders and Stroke and Department of Defense Sport-Related Concussion Common Data Elements Version 1.0 RecommendationsSteven P Broglio, Anthony P Kontos, Harvey Levin, et al.Pageof 16