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Background: We seek to understand correlates of chronic stress and their influence on the development of substance use in a population-based cohort of young adults (OYSUP). Methodology: We evaluated clinical features, salivary RNA metrics and differential expression of candidate genes in unfraction...
ORGANISM(S): Homo sapiens 
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase-like 5 (CDKL5) gene, resulting in dysfunctional CDKL5 protein. It predominantly affects females and causes seizures in the first few months of life, ultimately resulting...
ORGANISM(S): Homo sapiens (Human) 
2025-04-28 | PXD063372 | Pride
The Australian Acute Care Genomics program provides ultra-rapid diagnostic testing to critically ill infants and children with suspected genetic conditions. Over two years, we performed whole genome sequencing (WGS) in 290 families, with average time to result of 2.9 days, and diagnostic yield of 47...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042001 | Pride
We generated a retinal pigment epithelial cell line with complete knockout of giantin using CRISPR. This experiment sought to define changes in the transcriptome of that cell line compared to the parental wild-type cells.
ORGANISM(S): Homo sapiens 
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