Publications by authors named "Rhys Dore"

Article Synopsis
  • Mutations in a specific gene are linked to Gaucher disease and significantly increase the risk for Parkinson's disease, but studying this gene is challenging due to its similar pseudogene.
  • By using long-read RNA sequencing, researchers were able to differentiate and quantify expression levels between the gene and its pseudogene, finding previously unrecognized transcripts.
  • The study revealed that many transcripts from both genes do not have the known lysosomal functions, indicating they may have other roles in the brain, which could change how we understand their impact on health and disease.
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Background: Blood pressure is a vital hemodynamic marker during the neonatal period. However, normative values are often derived from small observational studies. Understanding the normative range would help to identify ideal thresholds for intervention to treat hypotension or hypertension.

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Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied.

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There is increasing recognition regarding the need to represent ethnic diversity within dermatology education. Past evaluation of dermatology textbooks has demonstrated that depiction of dark skin makes up to 4.5%-19.

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The COVID-19 pandemic changed the delivery of healthcare within the United Kingdom. A virtual model of care, utilising telephone and video consultations, was rapidly imposed upon cancer genetics teams. This large-scale change in service delivery has led to new opportunities that can be harnessed to improve patient care.

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The European Society of Human Genetics—Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries. In this report, we present the ESHG-Y projects conducted since its conception. We organized the educational sessions at the ESHG Annual Conference, the European Dysmorphology Meetings, and a virtual session in collaboration with the European Board of Medical Genetics (EBMG).

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Hypertensive pregnancy is associated with increased maternal cardiovascular risk in later life. A range of cardiovascular adaptations after pregnancy have been reported to partly explain this risk. We used multimodality imaging to identify whether, by midlife, any pregnancy-associated phenotypes were still identifiable and to what extent they could be explained by blood pressure.

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