| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 732 | 2006 |
| Nephronophthisis-Medullary Cystic Kidney Disease F Hildebrandt, R Airik, JA Sayer Schrier's Diseases of the Kidney, Section III: 15, 2012 | 481* | 2012 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 452 | 2005 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 426 | 2021 |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012 | 424 | 2012 |
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006 | 417 | 2006 |
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ... Nature genetics 39 (8), 1018-1024, 2007 | 271 | 2007 |
| 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 | 235 | 2015 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 194 | 2019 |
| Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle D Morgan, L Eley, J Sayer, T Strachan, LM Yates, AS Craighead, ... Human molecular genetics 11 (26), 3345-3350, 2002 | 187 | 2002 |
| Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis A Daga, AJ Majmundar, DA Braun, HY Gee, JA Lawson, S Shril, ... Kidney international 93 (1), 204-213, 2018 | 184 | 2018 |
| Nephrocalcinosis: molecular insights into calcium precipitation within the kidney JA Sayer, G Carr, NL Simmons Clinical science 106 (6), 549-561, 2004 | 183 | 2004 |
| Evidence of digenic inheritance in Alport syndrome MA Mencarelli, L Heidet, H Storey, M van Geel, B Knebelmann, C Fallerini, ... Journal of medical genetics 52 (3), 163-174, 2015 | 177 | 2015 |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, ... Human mutation 33 (3), 457-466, 2012 | 156 | 2012 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ... The Journal of clinical investigation 120 (3), 791-802, 2010 | 156 | 2010 |
| Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis DA Braun, JA Lawson, HY Gee, J Halbritter, S Shril, W Tan, D Stein, ... Clinical Journal of the American Society of Nephrology 11 (4), 664-672, 2016 | 144 | 2016 |
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome J Helou, EA Otto, M Attanasio, SJ Allen, MA Parisi, I Glass, B Utsch, ... Journal of medical genetics 44 (10), 657-663, 2007 | 137 | 2007 |
| Many genes—one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders S Srivastava, E Molinari, S Raman, JA Sayer Frontiers in pediatrics 5, 287, 2018 | 133 | 2018 |
| A meckelin–filamin A interaction mediates ciliogenesis M Adams, RJ Simms, Z Abdelhamed, HR Dawe, K Szymanska, CV Logan, ... Human molecular genetics 21 (6), 1272-1286, 2012 | 128 | 2012 |
| Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis MTF Wolf, S Saunier, JF O'Toole, N Wanner, T Groshong, M Attanasio, ... Kidney international 72 (12), 1520-1526, 2007 | 122 | 2007 |
Elisa MolinariResearch Associate, Newcastle UniversityVerified email at ncl.ac.uk
