Associated Papers
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › FBN1
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A et al.
Genome Medicine, 2024
39741318 (PubMed )
Supplement: 13073_2024_1423_MOESM2_ESM.xlsx › Sheet1
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO et al.
European Journal of Human Genetics : Ejhg, 2024
37684520 (PubMed )
Supplement: 41431_2023_1455_MOESM4_ESM.xlsx › FBN1_variants
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
Millar Vernetti P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.
Gezdirici A et al.
Journal of Human Genetics, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
Clarke CM et al.
American Journal of Medical Genetics. Part A, 2018
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A et al.
Human Mutation, 2016
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
Ziganshin BA et al.
The Annals of Thoracic Surgery, 2015
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