| Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis J Halbritter, M Baum, AM Hynes, SJ Rice, DT Thwaites, ZS Gucev, ... Journal of the American Society of Nephrology 26 (3), 543-551, 2015 | 221 | 2015 |
| Interplay between genetics and epigenetics in osteoarthritis SJ Rice, F Beier, DA Young, J Loughlin Nature Reviews Rheumatology 16 (5), 268-281, 2020 | 103 | 2020 |
| Genetics of osteoarthritis G Aubourg, SJ Rice, P Bruce-Wootton, J Loughlin Osteoarthritis and Cartilage 30 (5), 636-649, 2022 | 84 | 2022 |
| Clinical and genetic analysis of patients with cystinuria in the United Kingdom HL Rhodes, L Yarram-Smith, SJ Rice, A Tabaksert, N Edwards, A Hartley, ... Clinical Journal of the American Society of Nephrology 10 (7), 1235-1245, 2015 | 82 | 2015 |
| Functional testing of thousands of osteoarthritis-associated variants for regulatory activity JC Klein, A Keith, SJ Rice, C Shepherd, V Agarwal, J Loughlin, ... Nature communications 10 (1), 2434, 2019 | 81 | 2019 |
| ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition S Alkanderi, E Molinari, R Shaheen, Y Elmaghloob, LA Stephen, ... The American Journal of Human Genetics 103 (4), 612-620, 2018 | 76 | 2018 |
| Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals SJ Rice, K Cheung, LN Reynard, J Loughlin Osteoarthritis and Cartilage 27 (10), 1545-1556, 2019 | 45 | 2019 |
| Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk SJ Rice, G Aubourg, AK Sorial, D Almarza, M Tselepi, DJ Deehan, ... Human molecular genetics 27 (19), 3464-3474, 2018 | 41 | 2018 |
| Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci SJ Rice, M Tselepi, AK Sorial, G Aubourg, C Shepherd, D Almarza, ... Arthritis & rheumatology 71 (8), 1285-1296, 2019 | 38 | 2019 |
| Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations A Fearn, B Allison, SJ Rice, N Edwards, J Halbritter, S Bourgeois, ... Physiological reports 6 (12), e13715, 2018 | 37 | 2018 |
| A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’ N Edwards, SJ Rice, S Raman, AM Hynes, S Srivastava, I Moore, ... Clinical kidney journal 8 (1), 113-119, 2015 | 36 | 2015 |
| Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene CG Boer, MS Yau, SJ Rice, RC de Almeida, K Cheung, U Styrkarsdottir, ... Annals of the rheumatic diseases 80 (3), 367-375, 2021 | 30 | 2021 |
| Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC AK Sorial, IMJ Hofer, M Tselepi, K Cheung, E Parker, DJ Deehan, SJ Rice, ... Osteoarthritis and Cartilage 28 (11), 1448-1458, 2020 | 28 | 2020 |
| Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations J Devane, E Ott, EG Olinger, D Epting, E Decker, A Friedrich, ... The American Journal of Human Genetics 109 (5), 928-943, 2022 | 27 | 2022 |
| Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint SJ Rice, JB Roberts, M Tselepi, A Brumwell, J Falk, C Steven, J Loughlin Arthritis & Rheumatology 73 (10), 1866-1877, 2021 | 27 | 2021 |
| Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis YS Kehayova, E Watson, JM Wilkinson, J Loughlin, SJ Rice Arthritis & Rheumatology 73 (10), 1856-1865, 2021 | 26* | 2021 |
| Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility E Parker, IMJ Hofer, SJ Rice, L Earl, SA Anjum, DJ Deehan, J Loughlin Arthritis & Rheumatology 73 (1), 100-109, 2021 | 26 | 2021 |
| Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families MH Al-Hamed, N Alsahan, SJ Rice, N Edwards, E Nooreddeen, M Alotaibi, ... Pediatric Nephrology 34, 1615-1623, 2019 | 26 | 2019 |
| Esomeprazole increases airway surface liquid pH in primary cystic fibrosis epithelial cells L Delpiano, JJ Thomas, AR Yates, SJ Rice, MA Gray, V Saint-Criq Frontiers in Pharmacology 9, 413660, 2018 | 21 | 2018 |
| Searching for CYP24A1 mutations in cohorts of patients with calcium nephrolithiasis J Sayers, AM Hynes, SJ Rice, P Hogg, JA Sayer OA Nephrology 1 (1), 6, 2013 | 20 | 2013 |
John LoughlinNewcastle UniversityDirección de correo verificada de ncl.ac.uk
