Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Adeline Vanderver, Anjana Sevagamoorthy et al.|Molecular Genetics and Metabolism|2024Cited by 25
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)Isabella Peixoto de Barcelos, Laura Adang, Sarah Woidill et al.|Molecular Genetics and Metabolism|2024Cited by 12
Gross Motor Function in Pediatric Onset <i>TUBB4A</i> -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>Francesco Gavazzi, Adeline Vanderver, Virali Patel et al.|Journal of Child Neurology|2023Cited by 11
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Adeline Vanderver, Brittany A. Charsar et al.|Molecular Genetics and Metabolism|2025Cited by 11
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Maria L. Escolar, Samuel Groeschel et al.|Molecular Genetics and Metabolism|2024Cited by 8