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Human Molecular Genetics|January 31, 2021
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafishYu-Ri Lee, Se Hee Kim, Afif Ben-Mahmoud, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|January 15, 2024
HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public healthDavid P Taylor, Bret S E Heale, Benjamin Chisum, et al.
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Annals of Neurology|October 28, 2024
A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic TargetsEzzat Hashemi, Isha N Srivastava, Alejandro Aguirre, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2026
Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALDCecilie S Videbaek, Danielle Hj Kim, Hannah S Hart, et al.
Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.
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