A5084126277- Lipoproteins and Cardiovascular Health
- Glioma Diagnosis and Treatment
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Cancer Genomics and Diagnostics
- Cancer, Lipids, and Metabolism
- Medical Imaging Techniques and Applications
- Genetic factors in colorectal cancer
- Genomics and Phylogenetic Studies
- Health and Medical Research Impacts
- Methane Hydrates and Related Phenomena
- Intramuscular injections and effects
- RNA modifications and cancer
- Viral-associated cancers and disorders
- Helicobacter pylori-related gastroenterology studies
- Cellular Mechanics and Interactions
- Ocular Oncology and Treatments
- Digestive system and related health
- Drug Transport and Resistance Mechanisms
- Histone Deacetylase Inhibitors Research
- interferon and immune responses
- Genetics and Neurodevelopmental Disorders
- Mathematical Biology Tumor Growth
- Peripheral Neuropathies and Disorders
- Genomic variations and chromosomal abnormalities
Auckland City Hospital
2021-2024
North Bristol NHS Trust
2012-2020
Institut Pierre-Simon Laplace
2020
Newcastle upon Tyne Hospitals NHS Foundation Trust
2017
Royal Victoria Infirmary
2017
Southmead Hospital
2011-2017
University of Oxford
2017
University of Cambridge
2017
Medical Genetics Center
2017
Bristol Robotics Laboratory
2012-2017
To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort patients from North England.
Pilocytic astrocytomas (PAs) are increasingly tested for KIAA1549-BRAF fusions. We used reverse transcription polymerase chain reaction the 3 most common fusions, together with BRAF V600E and histone H3.3 K27M analyses to identify relationships of these molecular characteristics clinical features in a cohort 32 PA patients. In this group, overall fusion detection rate was 24 (75%). Ten (42%) had 16-9 fusion, 8 (33%) only 15-9 1 (4%) patients 16-11 fusion. PAs cerebellum 7 were centered...
PUF60 encodes a nucleic acid-binding protein, component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions chromosome 8q24.3 including were found to have developmental delay, microcephaly, craniofacial, renal cardiac defects. Very similar phenotypes been described in six variants PUF60, suggesting that it underlies the syndrome. We report 12 additional who ascertained using exome sequencing: through Deciphering Developmental Disorders...
Pathogenic variants in the Glycyl-tRNA synthetase gene cause allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy V. We describe clinical features 8 unrelated patients found to have by Next Generation Sequencing. In addition upper limb predominant symptoms, other presentations included failure thrive, feeding difficulties lower dominant symptoms. Variability age at testing ranged from 14 months 59 years. The youngest being symptomatic 3...
<h3>Background</h3> Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by recognisable craniofacial appearance and typical 'BOS' posture. BOS caused sporadic mutations of<i>ASXL1</i>. However, several patients with have no molecular diagnosis, suggesting clinical heterogeneity. <h3>Objectives</h3> To expand the phenotypical spectrum of autosomal recessive variants <i>KLHL7</i>, reported as causing Crisponi syndrome/cold-induced sweating type 1 (CS/CISS1)-like syndrome....
To evaluate (a) the diagnostic yield of genetic testing for monogenic diabetes when using single gene and panel-based approaches in New Zealand (NZ) population, (b) whether MODY (Maturity Onset Diabetes Young) pre-test probability calculator can be used to guide referrals NZ, (c) number Māori/Pacific ethnicities compared NZ European, (d) volume proband vs cascade tests being requested.A retrospective audit 495 referrals, from genes was performed. Referrals sent LabPlus (Auckland) laboratory...
We describe a female toddler with rectal bleeding from extensive colonic polyposis. She has epilepsy infancy attributed to focal cortical dysplasia. Hepatoblastoma was diagnosed at 13 months of age. Germline testing detected pathogenic APC (adenomatous polyposis coli gene) variant. discuss the anecdotal management an atypical, very early-onset symptomatic Familial adenomatous (FAP) case, and clinical utility genetic confirmation in such cases. review genotype-phenotype correlation mutational...
Abstract Approximately 200 critically ill infants and children in New Zealand are high-dependency neonatal/paediatric acute care at any given time, many with suspected genetic conditions, necessitating a scalable distributed solution for rapid genomic testing. We adopt the existing genomics protocol of an accredited laboratory established expandable clinical pipeline based around Oxford Nanopore Technologies PromethION 2 solo system connected to Bayesian AI-based decision support tool...
Approximately 200 critically ill infants and children in New Zealand are high-dependency care, many suspected of having genetic conditions, requiring scalable genomic testing. We adopted an acute care genomics protocol from accredited laboratory established a clinical pipeline using Oxford Nanopore Technologies PromethION 2 solo system Fabric GEM™ software. Benchmarking the was performed Global Alliance for Genomics Health benchmarking tools Genome Bottle samples (HG002-HG007). Evaluation...
Abstract. The distribution of data contributed to the Coupled Model Intercomparison Project Phase 6 (CMIP6) is via Earth System Grid Federation (ESGF). ESGF a network internationally distributed sites that together work as federated archive. Data records from climate modelling institutes are published on and then shared around world. It anticipated CMIP6 will produce O(20PB) be ESGF. In addition this large volume number value-added services required interact with ESGF, for example Citation...
Cardiac disease is genetically heterogeneous with genes associated multiple cardiac diseases, causal per disease, and often variants in one or more contributing to presentation. Gene panel testing, either through a specific targeted design, by virtual analysis from the exome/clinical exome an ideal approach for genetic diagnosis provides information regarding complexity of these diseases. Bristol Genetics Laboratory gene paediatric cardiomyopathy (PC) (71 genes, Agilent SureSelect) variety...