David Moore
European Organisation for Rare Diseases(FR)National Health Service Scotland(GB)NHS Education for Scotland(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Estrogen and related hormone effects, Pharmacogenetics and Drug Metabolism
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP(2019)165 cited
- → Not all SCN1A epileptic encephalopathies are Dravet syndrome(2017)125 cited
- → Phenotypic Anchoring of Gene Expression Changes during Estrogen-Induced Uterine Growth(2004)113 cited
- → Discovery of Piragliatin—First Glucokinase Activator Studied in Type 2 Diabetic Patients(2012)98 cited
- → Anti-proliferative effect of estrogen in breast cancer cells that re-express ERα is mediated by aberrant regulation of cell cycle genes(2005)90 cited