Associated Papers
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
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
De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report.
MacGowan T et al.
Frontiers in Cardiovascular Medicine, 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
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
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R et al.
Orphanet Journal of Rare Diseases, 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
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
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 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
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
Yoo EH et al.
Clinical Genetics, 2010
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
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
Turner CL et al.
American Journal of Medical Genetics. Part A, 2009
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
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K et al.
Human Mutation, 2005