A5052730690- Cancer Genomics and Diagnostics
- Reproductive Biology and Fertility
- Renal cell carcinoma treatment
- Renal Diseases and Glomerulopathies
- Ovarian function and disorders
- Renal and related cancers
- Adipose Tissue and Metabolism
- Epigenetics and DNA Methylation
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Hippo pathway signaling and YAP/TAZ
- Global Cancer Incidence and Screening
- Chronic Lymphocytic Leukemia Research
- Blood groups and transfusion
- Axon Guidance and Neuronal Signaling
- Congenital heart defects research
- Genomics and Rare Diseases
- Renal Transplantation Outcomes and Treatments
- Bladder and Urothelial Cancer Treatments
- Cancer, Hypoxia, and Metabolism
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Multiple and Secondary Primary Cancers
- Microtubule and mitosis dynamics
- Genetic factors in colorectal cancer
University of Cambridge
2022-2025
St George's, University of London
2024
St George’s University Hospitals NHS Foundation Trust
2024
Cambridge University Hospitals NHS Foundation Trust
2022
Birmingham Women’s and Children’s NHS Foundation Trust
2021
National Health Service
2021
University Hospitals Coventry and Warwickshire NHS Trust
2015-2016
<h3>Abstract</h3> Polycystic ovary syndrome (PCOS) is a common condition that typically develops in reproductive-age women. The cardinal clinical and biochemical characteristics of PCOS include reproductive dysfunction hyperandrogenic features. also strongly associated with obesity based on data from epidemiological genetic studies. Accordingly, often becomes manifest those women who carry predisposition to its development, gain weight. role weight the development mediated at least part,...
Birt-Hogg-Dubé syndrome (BHDS) is the most common monogenic cause of pneumothorax. Most affected families have pathogenic variants in FLCN gene. Using large genomic registries (UK Biobank (UKB), 100,000 Genomes Project and East London Genes & Health) including >550 000 individuals, we demonstrate that frequency clinically validated loss-of-function 1 2710 to 4190. While lifetime risk pneumothorax mutation carriers UKB a BHDS clinical cohort was substantial (28.4% 37.3%, respectively,...
Abstract Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part E3 ubiquitin ligase complex comprising pVHL, elongin C, B, cullin 2 and ring box 1 (VCB-CR complex), which plays key role oxygen sensing degradation hypoxia-inducible factors. To date, only variants been shown to cause disease. We undertook trio analysis by whole-exome...
Abstract Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture susceptibility to RCC is not well defined. We investigated frequency pathogenic and likely (P/LP) germline variants genes (CSGs) within large series unselected participants. Whole-genome sequencing data on 1336 participants 5834 controls recruited UK 100 000 Genomes Project, nationwide multicentre study, was analyzed identify rare P/LP short (single nucleotide...
// Mark R. Woodford 1 , 2 3 Avgi Andreou 4 Masaya Baba 5 Irma van de Beek 6 Chiara Di Malta 7 8 Iris Glykofridis 9 Hannah Grimes 10 Elizabeth P. Henske 11 Othon Iliopoulos 12 13 Masatoshi Kurihara 14 Romain Lazor 15 W. Marston Linehan 16 Kenki Matsumoto 17 Stefan J. Marciniak Yukiko Namba 18 Arnim Pause 19 Neil Rajan 20 Anindita Ray 21 Laura S. Schmidt 22 Wei Shi 23 Ortrud K. Steinlein 24 Julia Thierauf 25 26 Roberto Zoncu 27 Anna Webb 28 and Mehdi Mollapour Department of Urology, SUNY...
Abstract Background Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies. Methods We present the clinical and molecular characteristics of 100KGP cohort, comparing paediatric adult probands diverse cardiomyopathies. assessed diagnostic yield spectrum aetiologies across presentations. re-analysed...