Eamonn Maher
Aston University(GB)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, Mitochondrial Function and Pathology, Cancer, Hypoxia, and Metabolism, Pancreatic function and diabetes, Diabetes, Cardiovascular Risks, and Lipoproteins
Most-Cited Works
- → Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia(2016)314 cited
- → Genetic basis of early onset and progression of type 2 diabetes in South Asians(2024)31 cited
- → A NovelABCA12Mutation in Two Families with Congenital Ichthyosis(2012)5 cited
- → Undiagnosed G6PD Deficiency in Black and Asian Individuals Is Prevalent and Contributes to Health Inequalities in Type 2 Diabetes Diagnosis and Complications(2025)5 cited
- → Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores(2025)1 cited
- Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study(2015)
- → Faculty Opinions recommendation of Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.(2005)
- → XBP1 expression in pancreatic islet cells is associated with poor glycaemic control especially in young non-obese onset diabetes across ancestries(2025)
- A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)(2005)
- → Faculty Opinions recommendation of Inhibition of succinate dehydrogenase dysregulates histone modification in mammalian cells.(2009)