Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Amor-Salamanca A et al.
Circulation. Genomic and Precision Medicine, 2024
Human Genetics of Ventricular Septal Defect.
Perrot A et al.
Advances in Experimental Medicine and Biology, 2024
Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.
Taha M et al.
Gene, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.
Huang RT et al.
International Journal of Medical Sciences, 2017
TBX20 loss-of-function mutation contributes to double outlet right ventricle.
Pan Y et al.
International Journal of Molecular Medicine, 2015
Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.
Monroy-Muñoz IE et al.
Biomed Research International, 2015
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
Liu JJ et al.
Journal of Zhejiang University. Science. B, 2014
Tbx20 transcription factor is a downstream mediator for bone morphogenetic protein-10 in regulating cardiac ventricular wall development and function.
Zhang W et al.
The Journal of Biological Chemistry, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch MG et al.
Journal of Medical Genetics, 2010
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Kirk EP et al.
American Journal of Human Genetics, 2007
T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.
Liu C et al.
European Journal of Medical Genetics, 0