Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
Athamneh M et al.
Journal of Cellular and Molecular Medicine, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S et al.
Brain Communications, 2024
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.
Gable DL et al.
American Journal of Medical Genetics. Part A, 2022
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M et al.
Brain : a Journal of Neurology, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT et al.
Brain : a Journal of Neurology, 2021
33559681 (PubMed )
Supplement: awaa420_supplementary_data.zip › OP-BRAI200424_PECorr_AttachmentsFolder_VWA1_manuscript_supplementary_AU_.pdf
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