A5042296356- Endometrial and Cervical Cancer Treatments
- Ovarian cancer diagnosis and treatment
- Prostate Cancer Treatment and Research
- Cancer Genomics and Diagnostics
- Sarcoma Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- Zebrafish Biomedical Research Applications
- Rabies epidemiology and control
- Muscle metabolism and nutrition
- Cardiomyopathy and Myosin Studies
- Neurological diseases and metabolism
- Prenatal Screening and Diagnostics
- Intracerebral and Subarachnoid Hemorrhage Research
- Genomics and Rare Diseases
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Sleep and related disorders
- Sleep and Wakefulness Research
- Intracranial Aneurysms: Treatment and Complications
- Cancer Immunotherapy and Biomarkers
- Connective tissue disorders research
University of British Columbia
2024
University College Dublin
2022
Children's Health Ireland at Crumlin
2022
Temple Street Children's University Hospital
2007-2018
Sport Wales
2013
Washington University in St. Louis
1992
In 2011, the Irish Medicines Board received reports of onset narcolepsy following vaccination against influenza A(H1N1)pdm09 with Pandemrix. A national steering committee was convened to examine association between and pandemic vaccination. We conducted a retrospective population-based cohort study. Narcolepsy cases from 1 April 2009 31 December 2010 were identified through active case finding. history gathered medical records. Pandemic status obtained databases. Two independent experts...
Abstract Purpose: Shallow whole-genome sequencing (sWGS) can detect copy-number (CN) aberrations. In high-grade serous ovarian cancer (HGSOC) sWGS identified CN signatures such as homologous recombination deficiency (HRD) to direct therapy. We applied with targeted p53abn endometrial cancers identify additional prognostic stratification and therapeutic opportunities. Experimental Design: panel was performed on formalin-fixed, paraffin-embedded cancers. alterations, mutational data were...
Low-grade serous ovarian carcinoma (LGSC) is a rare and lethal subtype of cancer. LGSC pathologically, biologically, clinically distinct from the more common high-grade (HGSC). arises borderline tumours (SBTs). The mechanism transformation for SBTs to remains poorly understood. To better understand biology LGSC, we performed whole proteome profiling formalin-fixed, paraffin-embedded tissue blocks (n = 11), HGSC 19), 26). We identified that able distinguish between histotypes epithelial...
SUMMARY We describe two cases of infant botulism due to Clostridium butyricum producing botulinum type E neurotoxin (BoNT/E) and a previously unreported environmental source. The infants presented at age 11 days with poor feeding lethargy, hypotonia, dilated pupils absent reflexes. Faecal samples were positive for C. BoNT/E. recovered after treatment including immune globulin intravenous (BIG-IV). BoNT/E was isolated from water tanks housing pet ‘yellow-bellied’ terrapins ( Trachemys scripta...
A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity origin that may harbour deleterious recessive variants. Three instances chromosome isodisomy (UPiD) were identified: one case maternal 1 and two cases paternal 2. We identified homozygous variants on isodisomic chromosomes probands: a novel p (Glu59ValfsTer20) variant TMCO1, (Pro222Leu) PRKRA, respectively....
Abstract Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. Methods We identified children genetically confirmed disease, whom CSF analysis had been undertaken. Clinical data were collected retrospectively. levels compared to both standardised age‐related reference ranges non‐ presenting status epilepticus. Results Forty‐one disease identified. Almost 50% documented evidence a disorder,...
A new lethal familial syndrome of unknown etiology is described in two male siblings who died the newborn period. Both had corneal edema and were hypotonic, requiring assisted ventilation at birth. Neuropathological findings included an immature appearance neocortical neurons, with cortical architecture similar to that normally seen infant 5 months gestational age. Axons myelin absent cerebral cerebellar white matter, also descending matter tracts brainstem spinal cord. Subacute inflammation...
<p>Supplemental figure 1. Flowchart depicting the selection of cohort.</p>
<p>Supplemental Figure 2. Oncoplot of HR associated genes.</p>
<p>Supplemental figure 3. Representative images of the FISH analysis performed on validation cohort to verify absolute copy number generated by rascal tool. In blue are nuclei stained with DAPI; Green arrows pointing centromeric probe CEP 7 (SpectrumGreen - Abbott Molecular); Red 11 (SpectrumOrange Molecular) probe.</p>
<p>Supplemental figure 4. Plot summarizing the relationship between Vancouver signature exposures per sample, copy number status and targeted panel mutations for key HRD genes.</p>
<p>Supplemental figure 8. Kaplan- Meier survival analyses showing improved overall for VS2 and worse VS1 VS3, however, this not significant PFS or DSS.</p>
<p>Supplemental figure 11. Kaplan-Meier survival analyses demonstrating no difference in PFS p53abn EC patients with endometrioid tumors compared to non-endometrioid (carcinosarcoma, clear cell, serous and other) once adjusting for FIGO stage.</p>
<p>Supplemental figure 5. Plot summarizing the relationship between BriTROC signature exposures per sample, targeted panel mutations, copy number status, and various clinical correlates</p>