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James Bartley
Loma Linda University Children's Hospital
Researcher James Bartley has made significant contributions to the fields of genetics, molecular biology, and medical research. Their recent studies have identified de novo variants in FRMD5, CNOT1, and other genes associated with neurodevelopmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Additionally, they have explored the effects of urea cycle disorders on patients' health, including hyperammonemic crises, and developed biomarkers such as urinary phenylacetylglutamine concentration to monitor treatment adherence. Furthermore, Bartley's research has expanded into evolutionary biology, studying the role of microorganisms in driving evolution, and speech characteristics in children with velocardiofacial syndrome. These findings have important implications for understanding genetic disorders, developing effective treatments, and shedding light on the complex relationships between humans and their environment.
Firms applying this knowledge
Horizon Therapeutics, Llc, Synlogic Operating Company, Inc.