1. Brady, M., E. Montgomery, P. Brennan, R. Mohindra and J.A. Sayer, 2013. Diagnosing fabry disease--delays and difficulties within discordant siblings. QJM, 10.1093/qjmed/hct024.
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2. Al-Hamed, M.H., E. Al-Sabban, H. Al-Mojalli, N. Al-Harbi and E. Faqeih et al., 2013. A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. J. Hum. Genet., 58: 480-489.
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3. Simms, R.J., A.M. Hynes, L. Eley, D. Inglis, B. Chaudhry, H.R. Dawe and J.A. Sayer, 2012. Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol. Life Sci., 69: 993-1009.
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4. Korkmaz, C. and J.A. Sayer, 2012. ANKH and renal stone formation in ankylosing spondylitis. J. Rheumatol., 39: 1756-1756.
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5. Hynes, A.M. and J.A. Sayer, 2012. Is there anything good in uric acid? QJM, 105: 395-395.
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6. Cheng, Y.Z., L. Eley, A.M. Hynes, L.M. Overman and R.J. Simms et al., 2012. Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One, Vol. 7, 10.1371/journal.pone.0044975.
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7. Chaki, M., R. Airik, A.K. Ghosh, R.H. Giles and R. Chen et al., 2012. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell, 3: 533-548.
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8. Brooks, A.M., M. Owens, J.A. Sayer, M. Salzmann, S. Ellard and B. Vaidya, 2012. Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. QJM, 105: 791-794.
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9. Bower M., R. Salomon, J. Allanson, C. Antignac and F. Benedicenti et al., 2012. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum. Mutat., 33: 457-466.
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10. Adams, M., R.J. Simms, Z. Abdelhamed, H.R. Dawe and K. Szymanska et al., 2012. A meckelin-filamin A interaction mediates ciliogenesis. Hum. Mol. Genet., 21: 1272-1286.
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11. Tasic, V., V.J. Lozanovski, Z. Gucev, N. Blau, H.I. Cheong and J.A. Sayer, 2011. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly-questions. Pediatr Nephrol., 26: 2153-2157.
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12. Tasic, V., A.M. Hynes, K. Kitamura, H.I. Cheong and V.J. Lozanovski et al., 2011. Clinical and functional characterization of URAT1 variants. PLoS One, Vol. 6, 10.1371/journal.pone.0028641.
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13. Simms, R.J., J.A. Sayer, R. Quinton, M. Walker, S. Ellard and T.H. Goodship, 2011. Monogenic diabetes, renal dysplasia and hypopituitarism: A patient with a HNF1A mutation. QJM, 104: 881-883.
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14. Simms, R.J., A.M. Hynes, L. Eley and J.A. Sayer, 2011. Nephronophthisis: A genetically diverse ciliopathy. Int. J. Nephrol., Vol. 2011 10.4061/2011/527137.
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15. Sayer, J.A., 2011. Renal stone disease. Nephron Physiol., 118: 35-44.
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16. Beck, B.B., H. Trachtman, M. Gitman, I. Miller and J.A. Sayer et al., 2011. Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia and CKD. Am. J. Kidney Dis., 58: 821-825.
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17. Zaucke, F., J.M. Boehnlein, S. Steffens, R.S. Polishchuk and L. Rampoldi et al., 2010. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum. Mol. Genet., 19: 1985-1997.
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18. Simms, R.J. and J.A. Sayer, 2010. Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? Pediatr Radiol., 40: 1581-1581.
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19. Shawcross, J.S. and J.A. Sayer, 2010. Secondary hyperparathyroidism in a poorly compliant patient. QJM, 103: 125-125.
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20. O'Toole, J.F., Y. Liu, E.E. Davis, C.J. Westlake and M. Attanasio et al., 2010. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest., 120: 791-802.
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21. Werner, A. and J.A. Sayer, 2009. Naturally occurring antisense RNA: Function and mechanisms of action. Curr. Opin. Nephrol. Hypertens., 18: 343-934.
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22. Simms, R.J., T. Hawkins and J.A. Sayer, 2009. Tc99m WCC identifies occult abscess in a polycystic kidney. Kidney Int., 75: 246-246.
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23. Simms, R.J., L. Eley and J.A. Sayer, 2009. Nephronophthisis. Eur. J. Hum. Genet., 17: 406-416.
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24. Carr, G., S.H. Moochhala, L. Eley, A. Vandewalle, N.L. Simmons and J.A. Sayer, 2009. The pyrophosphate transporter ANKH is expressed in kidney and bone cells and colocalises to the primary cilium/basal body complex. Cell Physiol. Biochem., 24: 595-604.
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25. Schafer, T., M. Putz, S. Lienkamp, A. Ganner and A. Bergbreiter et al., 2008. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum. Mol. Genet., 17: 3655-3662.
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26. Sayer, J.A., P. Haslam and P. Brennan, 2008. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney Int., 74: 1366-1366.
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27. Sayer, J.A., 2008. The genetics of nephrolithiasis. Nephron. Exp. Nephrol., 110: e37-e43.
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28. Moochhala, S.H., J.A. Sayer, G. Carr and N.L. Simmons, 2008. Renal calcium stones: Insights from the control of bone mineralization. Exp. Physiol., 93: 43-49.
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29. Krishnan, R., L. Eley and J.A. Sayer, 2008. Urinary concentration defects and mechanisms underlying nephronophthisis. Kidney Blood Press. Res., 31: 152-162.
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30. Eley, L., S.H. Moochhala, R. Simms, F. Hildebrandt and J.A. Sayer, 2008. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem. Biophys Res. Commun., 371: 877-882.
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31. Eley, L., C. Gabrielides, M. Adams, C.A. Johnson, F. Hildebrandt and J.A. Sayer, 2008. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int., 74: 1139-1149.
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32. Wolf, M.T., S. Saunier, J.F. O'Toole, N. Wanner and T. Groshong et al., 2007. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int., 72: 1520-1526.
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33. Sewpaul, A., J.A. Sayer, M.A. Mohamed, A. Ahmed and M. Shaw et al., 2007. Rapid onset intratubular calcification following renal transplantation requiring urgent parathyroidectomy. Clin. Nephrol., 68: 47-51.
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34. Helou, J., E.A. Otto, M. Attanasio, S.J. Allen and M.A. Parisi et al., 2007. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J. Med. Genet., 44: 657-663.
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35. Carr, G., J.A. Sayer and N.L. Simmons, 2007. Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cell Physiol. Biochem., 20: 507-516.
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36. Attanasio, M., N.H. Uhlenhaut, V.H. Sousa, J.F. O'Toole and E. Otto et al., 2007. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat. Genet., 39: 1018-1024.
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37. Utsch, B., J.A. Sayer, M. Attanasio, R.R. Pereira and M. Eccles et al., 2006. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr. Nephrol., 21: 32-35.
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38. Sayer, J.A., E.A. Otto, J.F. O'Toole, G. Nurnberg and M.A. Kennedy et al., 2006. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet., 38: 674-681.
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39. Sayer, J.A., 2006. Acute renal failure from contrast medium: Beware patients taking metformin. BMJ, 333: 653-653.
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40. Chang, B., H. Khanna, N. Hawes, D. Jimeno and S. He et al., 2006. 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. Hum. Mol. Genet., 15: 1874-1877.
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41. Carr, G., N.L. Simmons and J.A. Sayer, 2006. Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells. Cell Mol. Life Sci., 63: 367-377.
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42. Otto, E.A., B. Loeys, H. Khanna, J. Hellemans and R. Sudbrak et al., 2005. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet., 37: 282-288.
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43. Sayer, J.A., G. Carr and N.L. Simmons, 2004. Nephrocalcinosis: Molecular insights into calcium precipitation within the kidney. Clin. Sci. (Lond), 106: 549-561.
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44. Sayer, J.A., G. Carr and N.L. Simmons, 2004. Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochim. Biophys. Acta, 1689: 83-90.
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45. Moore, I., S. Ahmed, J.A. Sayer and M.K. Ward, 2004. Digital ischaemia in a renal transplant patient. Nephrol. Dial. Transplant., 19: 1656-1657.
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46. Moore, I., J.A. Sayer, A. Nayar, S. Ahmed and J.S. Tapson, 2004. Pantoprazole-induced acute interstitial nephritis. J. Nephrol., 17: 580-581.
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47. Sayer, J.A., G. Carr, S.H. Pearce, T.H. Goodship and N.L. Simmons, 2003. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochem. Biophys. Res. Commun., 3000: 305-310.
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48. Sayer J.A. and S.H. Pearce, 2003. Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes. Clin. Endocrinol. (Oxf), 59: 419-421.
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49. Sayer, J.A. and N.L. Simmons, 2002. Urinary stone formation: Dent's disease moves understanding forward. Exp. Nephrol., 10: 176-181.
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50. Sayer, J.A., G.S. Stewart, S.H. Boese, M.A. Gray, S.H. Pearce, T.H. Goodship and N.L. Simmons, 2001. The voltage-dependent Cl^- channel ClC-5 and plasma membrane Cl^- conductances of mouse renal collecting duct cells (mIMCD-3). J. Physiol., 536: 769-783.
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51. Sayer, J.A. and S.H. Pearce, 2001. Diagnosis and clinical biochemistry of inherited tubulopathies. Ann. Clin. Biochem., 38: 459-470.
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