Penny J. Norsworthy
MRC Prion Unit(GB)University College London(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Prion Diseases and Protein Misfolding, Lipoproteins and Cardiovascular Health, Neurological diseases and metabolism, Alzheimer's disease research and treatments
Most-Cited Works
- → Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats(1999)740 cited
- → Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans(2006)678 cited
- → FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity(2007)462 cited
- → Malaria susceptibility and CD36 mutation(2000)258 cited
- → Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease(2022)209 cited
- → Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years(2015)112 cited
- → The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia(2013)77 cited
- → Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study(2020)73 cited
- → Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series(2018)60 cited
- → Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome(2016)57 cited