Associated Papers
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Bandini P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health 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
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
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
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 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
FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Damrauer SM et al.
Circulation. Genomic and Precision Medicine, 2019
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature.
Noia G et al.
Lymphatic Research and Biology, 2019
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin J et al.
Frontiers in Genetics, 2019
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
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD et al.
Bmc Musculoskeletal Disorders, 2016
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 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
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology, 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
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Robinson DO et al.
Clinical Genetics, 2012
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Waldmüller S et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 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
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN et al.
Human Mutation, 2002
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
Adès LC et al.
American Journal of Medical Genetics, 2002
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
Youil R et al.
Human Mutation, 2000
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN et al.
Journal of Medical Genetics, 2000
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
Montgomery RA et al.
American Journal of Human Genetics, 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
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
Downing AK et al.
Cell, 1996
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C et al.
Molecular and Cellular Probes, 1994