Associated Papers
Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Shen X et al.
Journal of Translational Medicine, 2025
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Huo QY et al.
Investigative Ophthalmology & Visual Science, 2025
Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.
Tamhankar PM et al.
Cureus, 2024
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Buki G et al.
Molecular Genetics & Genomic Medicine, 2023
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
Chen Z et al.
The British Journal of Ophthalmology, 2022
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A et al.
Clinical Genetics, 2021
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
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
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.
Wei CH et al.
Bioinformatics (oxford, England), 2018
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
Jensen SA et al.
Human Molecular Genetics, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
Fu Q et al.
Molecular Vision, 2014
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Wang WJ et al.
Journal of Molecular Medicine (berlin, Germany), 2013
A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
Dong J et al.
Molecular Vision, 2012
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C et al.
European Journal of Human Genetics : Ejhg, 2009
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
Attanasio M et al.
Clinical Genetics, 2008
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
De Backer J et al.
Clinical Genetics, 2007
[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
Sui RF et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2004