Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.
Kneußel J et al.
Pediatric Research, 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
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
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
Whole aorta imaging shows increased risk for thoracic aortic aneurysms and dilatations in relatives of abdominal aortic aneurysm patients.
Liu H et al.
Journal of Vascular Surgery, 2025
Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.
Feng X et al.
Drug Design, Development and Therapy, 2025
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling.
Aalders J et al.
Frontiers in Cell and Developmental Biology, 2024
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
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.
Van Den Heuvel LJF et al.
Stem Cell Research, 2023
Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.
Aalders J et al.
Stem Cell Research, 2023
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.
Taniguchi Y et al.
Journal of Medical Genetics, 2023
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
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.
Lace B et al.
Frontiers in Genetics, 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
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
Ma M et al.
Bmc Cardiovascular Disorders, 2021
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
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.
Li Y et al.
American Journal of Translational Research, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E et al.
European Journal of Endocrinology, 2020
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J et al.
Science China. Life Sciences, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Arnaud P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Damrauer SM et al.
Circulation. Genomic and Precision Medicine, 2019
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Becerra-Muñoz VM et al.
Orphanet Journal of Rare Diseases, 2018
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
Fang M et al.
Scientific Reports, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
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
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R et al.
Genetics Research, 2016
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK et al.
Journal of Translational Medicine, 2016
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
Haller G et al.
The Journal of Bone and Joint Surgery. American Volume, 2015
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
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.
Ogawa N et al.
The American Journal of Cardiology, 2011
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
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
Howarth R et al.
Genetic Testing, 2007
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
Loeys B et al.
Human Mutation, 2004
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A et al.
Human Mutation, 2004
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002