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Molecular Therapy : the Journal of the American Society of Gene Therapy|March 29, 2024
Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter diseaseJessica A Herstine, Pi-Kai Chang, Sergiy Chornyy, et al.Neurology. Genetics|February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium OpinionMarjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.Pediatric Research|February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatricsRachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.Neurology|March 21, 2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesisRussell J Butterfield, Tamara J Stevenson, Lingyan Xing, et al.Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.Frontiers in Molecular Neuroscience|January 2, 2024
Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidationAli Tawbeh, Quentin Raas, Mounia Tahri-Joutey, et al.Pediatric Neurology|October 30, 2025
Risk of Seizures and Epilepsy in the LeukodystrophiesAshley N Hackett, Helena Yan, Katie Liu, et al.Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.BMC Neurology|August 17, 2023
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocatesDaphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, et al.Molecular Genetics & Genomic Medicine|June 14, 2019
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infantsLuca Brunelli, Sabrina M Jenkins, James M Gudgeon, et al.Pageof 18