Sarah Smithson
University Hospitals Bristol NHS Foundation Trust(GB)
Publications by Year
Research Areas
RNA modifications and cancer, Cutaneous Melanoma Detection and Management, Kidney Stones and Urolithiasis Treatments, Vascular Malformations and Hemangiomas, Testicular diseases and treatments
Most-Cited Works
- → Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom(2015)81 cited
- → Consensus statement for the treatment of infantile haemangiomas with propranolol(2017)72 cited
- → Differing trends in thickness and survival between nodular and non‐nodular primary cutaneous melanoma in Victoria, Australia(2015)13 cited
- → Mycophenolate mofetil to treat mid‐dermal elastolysis(2018)9 cited
- A Rare Form of Ovotesticular DSD: Diagnostic and Management Challenges(2018)
- → Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing(2025)
- → Two cases of brain hypomyelination and skeletal dysplasia: A diagnostic challenge(2017)
- → SP010CLINICAL AND GENETIC ANALYSIS OF A COHORT OF ENGLISH CYSTINURIA PATIENTS(2015)