Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.
Yang R et al.
Orphanet Journal of Rare Diseases, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Fager Ferrari M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ et al.
Journal of Cardiovascular Translational Research, 2017
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.
Busch A et al.
Orphanet Journal of Rare Diseases, 2016
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al.
American Journal of Medical Genetics. Part A, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Drera B et al.
Journal of Dermatological Science, 2011