Publications by authors named "James A Bartley"
Article Synopsis
- * Eight individuals with developmental issues and rare mutations in FRMD5 showed that these mutations are mostly new (de novo) and suggest that FRMD5 variants contribute to neurological disorders.
- * Research on the corresponding fly gene (dFrmd) revealed that loss of this gene leads to extreme sensitivity to heat and seizures, indicating that human FRMD5 mutations likely result in neurological abnormalities through similar mechanisms.
Purpose: The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders.
Methods: The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyzed in >100 patients with urea cycle disorders.
Results: Fasting ammonia correlated strongly with daily ammonia exposure (r = 0.
Whole-genome oligonucleotide single-nucleotide polymorphism (oligo-SNP) arrays enable simultaneous interrogation of copy number variations (CNVs), copy neutral regions of homozygosity (ROH) and uniparental disomy (UPD). Structural variation in the human genome contributes significantly to genetic variation, and often has deleterious effects leading to disease causation. Co-occurrence of CNV and regions of allelic homozygosity in tandem involving the same chromosomal arm are extremely rare.
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