Sarah Ennis
A5002940859- Retinal Diseases and Treatments
- Inflammatory Bowel Disease
- Retinal Imaging and Analysis
- Glaucoma and retinal disorders
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Mapping and Diversity in Plants and Animals
- Helicobacter pylori-related gastroenterology studies
- Cancer Genomics and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- Retinal and Optic Conditions
- Genetic factors in colorectal cancer
- Microscopic Colitis
- Congenital heart defects research
- Retinal Development and Disorders
- melanin and skin pigmentation
- Complement system in diseases
- Corneal surgery and disorders
- RNA modifications and cancer
- Evolution and Genetic Dynamics
- Lymphoma Diagnosis and Treatment
- Eosinophilic Esophagitis
- Adolescent and Pediatric Healthcare
University Hospital Southampton NHS Foundation Trust
2000-2025
University of Southampton
2015-2024
NIHR Southampton Biomedical Research Centre
2017-2024
Moorfields Eye Hospital
2024
University College London
2018-2024
NIHR Birmingham Biomedical Research Centre
2023-2024
University of Birmingham
2023-2024
University Hospitals Birmingham NHS Foundation Trust
2023-2024
Southampton General Hospital
2011-2023
UK Biobank
2021-2023
Abstract Medical artificial intelligence (AI) offers great potential for recognizing signs of health conditions in retinal images and expediting the diagnosis eye diseases systemic disorders 1 . However, development AI models requires substantial annotation are usually task-specific with limited generalizability to different clinical applications 2 Here, we present RETFound, a foundation model that learns generalizable representations from unlabelled provides basis label-efficient adaptation...
Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin basement membrane nephropathy (TBMN). We aimed to investigate distribution gene in adult patients primary FSGS/SRNS by targeted next generation sequencing (NGS). Eighty-one adults from 76 families were recruited; 24 had a history renal disease. A NGS panel was...
Cadaveric studies have shown disease-related neurodegeneration and other morphological abnormalities in the retina of individuals with Parkinson disease (PD); however, it remains unclear whether this can be reliably detected vivo imaging. We investigated inner retinal anatomy, measured using optical coherence tomography (OCT), prevalent PD subsequently assessed association these markers development a prospective research cohort.
Linkage disequilibrium (LD) provides information about positional cloning, linkage, and evolution that cannot be inferred from other evidence, even when a correct sequence linkage map based on more than handful of families become available. We present theory to construct an LD for which distances are additive population-specific maps expected approximately proportional. For this purpose, there is only modest difference in relative efficiency haplotypes diplotypes: resolving the latter into...
Paediatric inflammatory bowel disease (PIBD), comprising Crohn's (CD), ulcerative colitis (UC) and unclassified (IBDU) is a complex multifactorial condition with increasing incidence. An accurate diagnosis of PIBD necessary for prompt effective treatment. This study utilises machine learning (ML) to classify using endoscopic histological data 287 children diagnosed PIBD. Data were used develop, train, test validate ML model subtype. Unsupervised models revealed overlap CD/UC broad clustering...
Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved low-density cholesterol modulation. Potential interaction APOE sex, smoking status has been reported. We present pooled analysis (n = 21,160) demonstrating late APOε4 (odds ratio [OR] 0.72 per haplotype; confidence interval [CI]: 0.65-0.74; P...
<h3>Background</h3> Multiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive and a particularly severe course. It is likely that genetic predisposition plays substantial role this group. <h3>Objective</h3> To identify the spectrum of rare novel variation known IBD susceptibility using exome sequencing analysis eight individual cases childhood onset disease. <h3>Design</h3> DNA...
Abstract The value of genome-wide over targeted driver analyses for predicting clinical outcomes cancer patients is debated. Here, we report the whole-genome sequencing 485 chronic lymphocytic leukemia enrolled in trials as part United Kingdom’s 100,000 Genomes Project. We identify an extended catalog recurrent coding and noncoding genetic mutations that represents a source future studies provide most complete high-resolution map structural variants, copy number changes global genome...
Importance Anti–vascular endothelial growth factor (VEGF) injections in eyes with nonproliferative diabetic retinopathy (NPDR) without center-involved macular edema (CI-DME) reduce development of vision-threatening complications from diabetes over at least 2 years, but whether this treatment has a longer-term benefit on visual acuity is unknown. Objective To compare the primary 4-year outcomes and rates moderate to severe NPDR treated intravitreal aflibercept compared sham. The 2-year...
Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility influenced by age, environmental and genetic factors. Known risk loci do not account for all the heritability. We therefore carried out genome-wide association study AMD UK population with 893 cases advanced 2199 controls. This showed an well-established ARMS2 (age-related maculopathy susceptibility 2)–HTRA1 (HtrA serine peptidase 1) (P =2.7 × 10−72), CFH (complement factor H) =2.3...
<h2>Abstract</h2><h3>Purpose</h3> Primary ovarian insufficiency before the age of 40 years affects 1% female population and is characterized by permanent cessation menstruation. Genetic causes include <i>FMR1</i> expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary insufficiency, but these are likely to be biased as compared with cases general population. The mutations early menopause (between ages 45 years) has not been published....
Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype gap through discovery new variants that help to unravel pathogenic mechanisms driving neuropathogenesis. One such includes TRIO, a gene recently neurodevelopmental delay. Trio Dbl family guanine nucleotide exchange factor (GEF) major regulator neuronal...