Victoria Parker

Learn More
Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis(More)
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered(More)
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic(More)
  • Edwin Jermaine Squirewell, Michael W Duffel, Jonathan A Doorn, Robert J Kerns, David L Roman, Daniel M Quinn +9 others
  • 2016
Recommended Citation Squirewell, Edwin Jermaine. "Interactions of Endoxifen and other major metabolites of Tamoxifen with human sulfotransferases SULT2A1, SULT1E1, and SULT1A1*1 : implications for the therapeutic action and toxicity of Tamoxifen." PhD (Doctor of Philosophy) thesis, ii To Him who is able to do immeasurably more than all we ask or imagine,(More)
OBJECTIVES The objective of this study was to estimate the risk of recurrent obstetric anal sphincter injury (rOASI) in women who have suffered anal sphincter injury in their previous pregnancy and analyse risk factors for recurrence through a systematic review and meta-analysis. DATA SOURCES A review was performed according to Preferred Reporting Items(More)
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde(More)
Historically, nursing students have shown great difficulty in mastering equipment during clinical practice sessions. A typical example is the Intravenous (IV) pump infusion driver. Traditional training methods have relied upon on-campus practical group training sessions. Recent work in this area has demonstrated that Remote Access Laboratories (RAL) can be(More)
  • 1