Rhys Dore
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View article: The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i>
The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i> Open
Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1 . We show that >50% …
View article: Neonatal blood pressure by birth weight, gestational age, and postnatal age: a systematic review
Neonatal blood pressure by birth weight, gestational age, and postnatal age: a systematic review Open
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…
View article: 13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia
13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia Open
Background Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy characterised by recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. It is a chronic condition with no curative ther…
View article: ‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis
‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis Open
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 inver…
View article: The annotation and function of the Parkinson’s and Gaucher disease-linked gene<i>GBA1</i>has been concealed by its protein-coding pseudogene<i>GBAP1</i>
The annotation and function of the Parkinson’s and Gaucher disease-linked gene<i>GBA1</i>has been concealed by its protein-coding pseudogene<i>GBAP1</i> Open
The human genome contains numerous duplicated regions, such as parent-pseudogene pairs, causing sequencing reads to align equally well to either gene. The extent to which this ambiguity complicates transcriptomic analyses is currently unkn…
View article: Dark Skin Representation within Mobile Applications for Dermatology Education: an Observational Analysis (Preprint)
Dark Skin Representation within Mobile Applications for Dermatology Education: an Observational Analysis (Preprint) Open
BACKGROUND Ethnic diversity in dermatology has previously been neglected within educational curricula. This has previously been demonstrated within many established dermatology textbooks. Many urban populations find their communities beco…
View article: Variations in Cardiovascular Structure, Function, and Geometry in Midlife Associated With a History of Hypertensive Pregnancy
Variations in Cardiovascular Structure, Function, and Geometry in Midlife Associated With a History of Hypertensive Pregnancy Open
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…