Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
De Winter J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.
Lan SC et al.
Molecular Biology Reports, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M et al.
Orphanet Journal of Rare Diseases, 2024
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022