Publications by authors named "D H Rowitch"
Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).
View Article and Find Full Text PDFBackground: The clinical utility of whole genome sequencing (WGS) in paediatric cancer has been demonstrated in recent years. WGS has been routinely available in the National Health Service (NHS) England for all children with cancer in England since 2021, but its uptake has been variable geographically. To explore the underlying barriers to routine use of WGS in this population across England and more widely in the United Kingdom (UK) and the Republic of Ireland (ROI), a one-day workshop was held in Cambridge, United Kingdom in October 2022.
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- * Hrg1 is specifically expressed in mature oligodendrocytes and is co-localized with myelin sheaths, suggesting its significant role in myelination.
- * Hrg1 null mutant mice displayed myelin defects and lower levels of myelin iron, indicating that Hrg1 is essential for maintaining myelin integrity and proper cell differentiation.