Last Updated: 09/26/2026
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Found 64 publications
Genetic Regulation of Protein Biomarkers in Pediatric Acute Respiratory Distress Syndrome.
Journal: Critical care explorations
Published: August 18, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 09, 2025
Approaches to diagnosis for individuals with a suspected inherited white matter disorder.
Journal: Handbook of clinical neurology
Published: September 25, 2024
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Journal: Molecular genetics and metabolism
Published: June 24, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Journal: Frontiers in genetics
Published: December 09, 2023
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Journal: Molecular genetics and metabolism
Published: June 10, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.
Journal: Stem cell research
Published: April 12, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Journal: Annals of neurology
Published: February 26, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Journal: European journal of medical genetics
Published: January 23, 2022
Last Updated: 09/26/2026