Richard Aspinwall
University of Oxford(GB)MRC Weatherall Institute of Molecular Medicine(GB)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Tuberous Sclerosis Complex Research, Renal and related cancers, Osteoarthritis Treatment and Mechanisms, DNA Repair Mechanisms
Most-Cited Works
- → The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains(1995)911 cited
- → Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene(1997)373 cited
- → Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III(1997)268 cited
- → Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome(2008)140 cited
- → Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies(1998)42 cited
- → Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog(1997)32 cited
- → Linkage to nodal osteoarthritis: quantitative and qualitative analyses of data from a whole-genome screen identify trait-dependent susceptibility loci(2006)25 cited
- Size of deletions in patients with the TSC/PKD phenotype determined by dynamic molecular combing and FISH.(1997)