Associated Papers
Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.
Molaee Z et al.
Genes, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.
Michaels JR et al.
Plos One, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate.
Michaels JR et al.
Biorxiv : the Preprint Server for Biology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Integrative Analysis Defines Distinct Prognostic Subgroups of Intrahepatic Cholangiocarcinoma.
Goeppert B et al.
Hepatology (baltimore, Md.), 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Zimmermann MT et al.
Plos One, 2017
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Spontaneous pneumothorax can be associated with TGFBR2 mutation.
Chambers JE et al.
The European Respiratory Journal, 2015
Characterization of DNA variants in the human kinome in breast cancer.
Agarwal D et al.
Scientific Reports, 2015
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
van de Luijtgaarden KM et al.
Human Genetics, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 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
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J et al.
Plos One, 2014
Genetic basis of familial valvular heart disease.
Padang R et al.
Circulation. Cardiovascular Genetics, 2012
Genetic insights into bicuspid aortic valve formation.
Laforest B et al.
Cardiology Research and Practice, 2012
Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
Girdauskas E et al.
The Annals of Thoracic Surgery, 2011
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C et al.
Human Mutation, 2008
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006
Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer.
Lücke CD et al.
Cancer Research, 2001