Associated Papers
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
Varela D et al.
Molecular Genetics and Genomics : Mgg, 2021
Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects.
Khatami M et al.
Journal of Cardiovascular and Thoracic Research, 2018
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
Genetics of cardiac septation defects and their pre-implantation diagnosis.
McDermott DA et al.
Methods in Molecular Medicine, 2006
Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.
He J et al.
American Journal of Medical Genetics. Part A, 2004
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM et al.
American Journal of Human Genetics, 2003
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson CT et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
Basson CT et al.
Nature Genetics, 1997
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