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
Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
38958168 (PubMed )
Supplement: MGG3-12-e2482-s006.xlsx › Supplementary_table_3
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
Difficulties in diagnosing Marfan syndrome using current FBN1 databases.
Groth KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Buchan JG et al.
Human Molecular Genetics, 2014
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC et al.
Annals of Human Genetics, 2009
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