Publications by authors named "Christopher Teller"
Article Synopsis
- - The study assesses the effectiveness of genome sequencing (GS) for diagnosing congenital limb malformations in patients who previously received no molecular diagnosis after standard testing.
- - Researchers analyzed 69 cases and found likely pathogenic variants in 12 of them, including one new gene related to ectrodactyly and two complex structural variants.
- - The findings suggest that GS can uncover a wide range of genomic variants linked to limb malformations, which are often missed by traditional diagnostic methods, though no noncoding variants were identified.
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892).
View Article and Find Full Text PDFBlood samples were taken from three groups of volunteers (30 male smokers, 30 female non-smokers, and 30 school children) and tested for ex vivo susceptibility toward formaldehyde (FA)-induced genotoxicity. Blood samples were exposed to 150 μM FA for 2 h, and the induction of DNA-protein crosslinks (DPX) in leukocytes was measured by a modification of the alkaline comet assay (i.e.
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