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
41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf
Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.
Kneußel J et al.
Pediatric Research, 2025
39379624 (PubMed )
Supplement: 41390_2024_3613_MOESM1_ESM.xlsx › Sheet1
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
40169830 (PubMed )
Supplement: 41431_2025_1826_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
37477931 (PubMed )
Supplement: iovs-64-10-28_s005.pdf
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
32679894 (PubMed )
Supplement: genes-11-00799-s001.zip › supplement_Data-variants.pdf
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s003.xlsx › FBN1_sensu_stricto
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA et al.
Human Mutation, 2010
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Mortensen K et al.
American Journal of Hypertension, 2010
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
Frédéric MY et al.
Human Mutation, 2009
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A et al.
Human Mutation, 2004
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