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Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Prioritizing genes for X-linked diseases using population exome data.
Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.
Genomic analysis of fibrolamellar hepatocellular carcinoma.
A sequence-based approach demonstrates that balancing selection in classical human leukocyte antigen (HLA) loci is asymmetric.
Tbx1 regulates oral epithelial adhesion and palatal development.