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
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 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
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.
Felker SA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Phenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.
Jiménez-Berríos GA et al.
Cureus, 2024
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
Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Bai Y et al.
Orphanet Journal of Rare Diseases, 2024
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical and genetic findings in Chinese families with congenital ectopia lentis.
Liu X et al.
Molecular Genetics & Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
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
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
Qi M et al.
International Ophthalmology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
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
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A et al.
Clinical 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
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
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
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China.
Tang SZ et al.
International Journal of Ophthalmology, 2019
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E et al.
European Journal of Medical Genetics, 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
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy.
Parent JJ et al.
Pediatric Cardiology, 2016
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al.
American Journal of Medical Genetics. Part A, 2015
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Baudhuin LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.
Wang F et al.
Molecular Vision, 2015
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
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
Li J 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
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Robinson DO et al.
Clinical Genetics, 2012
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA et al.
Human Mutation, 2010
[Computer construction and analysis of protein models of mutant fibrillin-1 gene in Marfan's syndrome].
Shentu XC et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
Deng T et al.
Molecular Vision, 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
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
Jin C et al.
Molecular Vision, 2007
Ectopia lentis phenotypes and the FBN1 gene.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2004
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
Comeglio P et al.
The British Journal of Ophthalmology, 2002
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G et al.
Nucleic Acids Research, 1998
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C et al.
Human Mutation, 1997