Associated Papers
Post-Transcriptional Modification by Alternative Splicing and Pathogenic Splicing Variants in Cardiovascular Development and Congenital Heart Defects.
Mehta Z et al.
International Journal of Molecular Sciences, 2023
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Owczarek-Lipska M et al.
Genes, 2022
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C et al.
Clinical Genetics, 2021
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
Kaeppler KE et al.
American Journal of Medical Genetics. Part A, 2018
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Johnston JJ et al.
American Journal of Medical Genetics. Part A, 2014
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
Johnston JJ et al.
American Journal of Human Genetics, 2010
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