Horia Stanescu
Kidney Care UK(GB)University College London(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Renal Diseases and Glomerulopathies, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations(2009)570 cited
- → NT5E Mutations and Arterial Calcifications(2011)446 cited
- → Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C(2009)332 cited
- → A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication(2010)291 cited
- → HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting(2009)273 cited
- → The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis(2020)213 cited
- → Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia(2012)178 cited
- → Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p(2010)153 cited
- → Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1 (2016)141 cited
- → A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia(2015)140 cited