Prof Daniel Gale

Job title

Honorary consultant nephrologist, St Peter's professor of nephrology

Contact details

Tel: 0207 317 7589.
Email: barbara.hemingway@nhs.net.

Related services

Kidney services

Location

Royal Free Hospital

Biography

Daniel Gale trained at Cambridge University before moving to London for postgraduate training in Nephrology, including a PhD under the supervision of Patrick Maxwell.

Since 2018 he has held the St Peter’s Chair of Nephrology at University College London, where he leads the Centre for Genetics and Genomics in the Department of Renal Medicine.

Professor Gale established and runs the North/Central London renal genetics service that looks after patients and families with rare kidney diseases, including polycystic kidney disease, C3 glomerulopathy and Alport syndrome.

As well as pioneering genomic testing, this clinic has an emphasis on observational and interventional research studies, including trials of potential new treatments for rare kidney diseases. He discovered (and identified the genetic basis of) the diseases HIF2α erythrocytosis with pulmonary hypertension, which results from defective oxygen sensing; and CFHR5 nephropathy, which is endemic in Cypriots.

Using large-scale genomics his group has advanced understanding of numerous diseases, including C3 glomerulopathy, nephrotic syndrome, posterior urethral valves, intrahepatic cholestasis of pregnancy and IgA nephropathy.

As director of RaDaR, the UK Rare Kidney Disease Registry that includes over 30,000 patients recruited at more than100 hospitals, his team has revealed the epidemiology and lifetime risk of kidney failure or death in 20 rare renal conditions.

Other activities include chairing the Therapeutic Innovation and Clinical Trials Genomics England (GEL) Research Network and the renal GEL clinical interpretation partnership that has helped establish genomic testing within mainstream NHS care for patients with rare kidney diseases.

Languages

English

GMC number

4767255

  1. Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice. Genes. 2023;14,1686.
  2. Scully M, Rayment R, Clark A, Westwood JP, Cranfield T, Gooding R, Bagot CN, Taylor A, Sankar V, Gale D, Dutt T, McIntyre J, Lester W, BSH Committee. A British Society for Haematology Guideline: Diagnosis and management of thrombotic thrombocytopenic purpura and thrombotic microangiopathies. Br J Haematol. 2023; PMID: 37586700
  3. Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Genomics England Research Consortium, Howles S, Gale DP, Böckenhauer D. Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. Kidney Int. 2023. PMID: 37414395
  4. Kiryluk K, et al. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.  Nat Genet. 2023;55(7):1091-1105. PMID: 37337107
  5. Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S, Cao J, Christian M, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Gbadegesin R, Parekh R, Kleta R, Bockenhauer D, Stanescu HC, Gale DP. Common Risk Variants in AHI1 are Associated With Childhood Steroid Sensitive Nephrotic Syndrome. Kidney Int Rep. 2023;8(8):1562-1574. PMID: 37547536
  6. Doctor GT, Gale DP, Chan MM. Genomics in the kidney clinic. Clin Med (Lond). 2023;23(3):246-249. PMID: 37236798
  7. Pitcher D, Braddon F, Hendry B, Mercer A, Osmaston K, Saleem MA, Steenkamp R, Wong K, Turner AN, Wang K, Gale DP, Barratt J. Long-Term Outcomes in IgA Nephropathy. Clin J Am Soc Nephrol. 2023;18(6):727-738. PMID: 37055195
  8. Gupta S, Downie ML, Cheshire C, Dufek-Kamperis S, Levine AP, Brenchley P, Hoxha E, Stahl RAK, Ashman N, Pepper RJ, Mason S, Norman J, Bockenhauer D, Stanescu HC, Kleta R, Gale DP. A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy. Glomerular Dis. 2023;3(1):116-125. PMID: 37090184
  9. Glover EK, Smith-Jackson K, Brocklebank V, Wilson V, Walsh PR, Montgomery EK, Wong EKS, Johnson S, Malina M, Kavanagh D, Sheerin NS; UK aHUS Transplant Consortium. Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome. Transplantation. 2022;107(4):994-1003. PMID: 36413152
  10. Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh RS, Bugarin Diz C, Bierzynska A, Levine AP, Pepper RJ, Stanescu H, Moin A Saleem M, Kleta R, Bockenhauer D, Koziell AB, Gale DP. Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome. Pediatr Nephrol. 2023;38(6):1793-1800. PMID: 36357634
  11. Mingardo E, et al. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Commun Biol. 2022;5(1):1203. PMID: 36352089
  12. Shwan NAA, Moise EC, Necsoiu PE, Farr AJ, Gale DP, Barratt J and Armour JAL. Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy. Ann Hum Genet. 2023;87(1-2):1-8. PMID: 36214424
  13. Chan MMY, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG, Zaniew M, Weber S, Ho YM, Connolly JO, Wood D, Maj C, Stuckey A, Kousathanas A, Genomics England Research Consortium, Kleta R, Woolf AS, Bockenhauer D, Levine AP and Gale DP. Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves. eLife. 2022;11:e74777. PMID: 36124557
  14. Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J, NIHR BioResource, Genomics England Research Consortium, Chambers J, Syngelaki A, Donnelly J, Cooley S, Michael Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall H-U, Gale DP, Williamson C. GWAS Meta-Analysis of Intrahepatic Cholestasis of Pregnancy Implicates Multiple Hepatic Genes and Regulatory Elements. Nat Commun. 2022;13(1):4840. PMID: 35977952
  15. Liang KV, Ellis BK, Stokes MB, Smith RJ, Gu X, Gale DP. Hematuria and Proteinuria in a Patient With Recurrent Pulmonary Illnesses: A Quiz. Am J Kidney Dis. 2022;79(6):A13-A15. PMID: 35598949
  16. Gibson JT, Sadeghi-Alavijeh O, Gale DP, Hansjörg Rothe H, Genomics England Research Consortium, Savige J. Pathogenicity of missense variants affecting the collagen IV α5 carboxy noncollagenous domain in X-linked Alport syndrome. Sci Rep. 2022;12(1):11257. PMID: 35789182
  17. Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Digenic Alport Syndrome. Clin J Am Soc Nephrol. 2022;17(11):1697-1706. PMID: 35675912
  18. KDIGO Conference Participants. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2022;101(6):1126-1141. PMID: 35460632
  19. Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. The 2019 and 2021 International Workshops on Alport Syndrome. Eur J Hum Genet. 2022;30(5):507-516. PMID: 35260866
  20. Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP; Genomics England Research Consortium, Cerkauskaite A, Savige J. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. Sci Rep. 2022;12(1):2722. PMID: 35177655
  21. Morais MRPT, Pinyuan Tian P, Lawless C, Murtuza-Baker S, Hopkinson L, Woods S, Mironov A, Long DA, Gale DP, Zorn TMT, Kimber SJ, Zent R, Lennon R. Kidney organoids recapitulate human basement membrane assembly in health and disease. eLife. 2022;11:e73486. PMID: 35076391
  22. Khalil Y, Carrino S, Lin F, Ferlin A, Lad HV, Mazzacuva F, Falcone S, Rivers N, Banks G, Concas D, Aguilar C, Haynes AR, Blease A, Nicol T, Al-Shawi R, Heywood W, Potter P, Mills K, Gale DP, Clayton PT. Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. Int J Mol Sci. 2022;23(2):987. PMID: 35055171
  23. Sanderson SC, Lewis C, Hill M, Peter M, McEntagart M, Gale D, Morris H, Moosajee M, Searle B, Hunter A, Patch C, Chitty LS. Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.  Genet Med. 2021;S1098-3600(21)01124-2. PMID: 34906473
  24. Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Ann Hum Genet. 2021;86(3):145-152. PMID: 34888854
  25. Wong E, Marchbank K, Lomax-Browne H, Pappworth I, Denton H, Cooke K, Ward S, McLoughlin AC, Richardson G, Wilson V, Harris C, Morgan BP, Hakobyan S, McAlinden P, Gale D, Maxwell H, Christian M, Malcomson R, Goodship T, Marks S, Pickering M, Kavanagh D, Cook HT, Johnson S. C3 Glomerulopathy and Related Disorders in Children. Clin J Am Soc Nephrol. 2021;16(11):1639-1651. PMID: 34551983
  26. Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol. 2021;32(9):2273-2290. PMID: 34400539
  27. Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Aris AM, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R. Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney Int Rep. 2021;6(6):1669-1676. PMID: 34169208
  28. Stubbs MJ, Coppo P, Cheshire C, Veyradier A, Dufek S, Levine AP, Thomas M, Patel V, Connolly JO, Hubank M, Benhamou Y, Galicier L, Poullin P, Kleta R, Gale DP, Stanescu H, Scully MA. Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura. Haematologica. 2022;107(3):574-582. PMID: 33596643
  29. Tischkowitz M, Power B, Slater G. A no-deal Brexit will be detrimental to people with rare diseases. Lancet. 2021;397(10268):20. PMID: 33316208
  30. Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale D, Downie ML. Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatr Nephrol. 2021;36(8):2165-2175. PMID: 33084934
  31. Kadkhodayi-Kholghi N, Bhatt JS, Gor J, McDermott LC, Gale DP, Perkins SJ. The solution structure of the human complement regulator FHR5 reveals a compact dimer and provides new insights on CFHR5 nephropathy. J Biol Chem. 2020;295(48):16342-16358. PMID: 32928961
  32. Kidd K, et al.  Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney Int Rep. 2020;5(9):1472-1485. PMID: 32954071
  33. Sukcharoen K, Sharp SA, Thomas NJ, Kimmitt RA, Harrison J, Bingham C, Mozere M, Weedon MN, Tyrrell J, Barratt J, Gale DP, Oram RA. IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank. Kidney Int Rep. 2020;5(10):1643-1650. PMID: 33102956
  34. Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Whole-genome Sequencing of Patients With Rare Diseases in a National Health System. Nature. 2020;583(7814):96-102. PMID: 32581362
  35. Thaventhiran JED, et al. Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):90-95. PMID: 32499645
  36. Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodanova K, Hyunh-Do U, Kistler AD, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney Int. 2020;98(3):717-731. PMID: 32450155
  37. Gale DP, Mallett A, Patel C, Sneddon TP, Rehm HL, Sampson MG, Bockenhauer D. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020;16(11):616-618. PMID: 32265521
  38. Brocklebank V, Kumar G, Howie AJ, Chandar J, Milford DV, Craze J, Evans J Finlay E, Freundlich M, Gale DP, Inward C, Mraz M, Jones C, Wong W, Marks SD, Connolly J, Corner B, Smith-Jackson K, Walsh PR, Marchbank KJ, Harris CL, Wilson V, Wong EKS, Malina M, Johnson S, Sheerin NS, Kavanagh D.  Long-term outcomes and response to treatment in DGKE nephropathy. Kidney Int. 2020;97(6):1260-1274. PMID: 32386968
  39. Levine AP, Chan MMY, Sadeghi-Alavijeh O, Wong EKS, Cook HT, Ashford S, Carss K, Christian MT, Hall M, Harris C, McAlinden P, Marchbank KJ, Marks SD, Maxwell H, Megy K, Penkett CJ, Mozere M, Stirrups KE, Tuna S, Wessels J, Whitehorn D, MPGN/DDD/C3 Glomerulopathy Rare Disease Group, NIHR BioResource, Johnson SA, Gale DP. Large scale whole-genome sequencing reveals the genetic architecture of primary membranoproliferative glomerulonephritis and C3 glomerulopathy. J Amer Soc Nephrol. 2020;31(2):365-373. PMID: 31919107
  40. Annear NMP, Appleton RE, Bassi Z, Bhatt R, Bolton PF, Crawford P, Crowe A, Tossi M, Elmslie F, Finlay E, Gale DP, Henderson A, Jones EA, Johnson SR, Joss S, Kerecuk L, Lipkin G, Morrison PJ, O’Callaghan FJ, Cadwgan J, Ong ACM, Sampson JR, Shepherd C, Kingswood JC. Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Front. Neurol. 2019;10:1116. PMID: 31781016
  41. *Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler i, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D. Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. J Amer Soc Nephrol. 2019;30(8):1375-1384. PMID: 31263063
  42. Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Germline selection shapes human mitochondrial DNA diversity. Science. 2019;364(6442):eaau6520. PMID: 31123110
  43. Gorman KM, Meyer E, Grozeva D, Spinelli E, … NIHR BioResource. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019. ;104(5):948-956. PMID: 30982612
  44. Dudley J, Winyard P, Marlais M, Cuthell O, Harris T, Chong J, Sayer J, Gale DP, Moore L, Turner K, Burrows S, Sandford R. Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). BMC Nephrol. 2019;20(1):148. PMID: 31039757
  45. Neave L, Gale DP, Cheesman S, Shah R, Scully M. Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy. Br J Haematol. 2019;186(1):113-124. PMID: 30916388
  46. Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, …UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Lancet Respir Med. 2019;7(3):227-238. PMID: 30527956
  47. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med. 2019;45(5):627-636. PMID: 30847515
  48. *Lin FJ, Yao L, Hu XQ, Bian F, Ji G, Jiang GR, Gale DP, Ren HQ. First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis. Clin Sci (Lond). 2019;133(1):9-21. PMID: 30523047
  49. Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 2018;19(1):301. PMID: 30376835
  50. Amin S, Kingswood JC, Bolton PF, Elmslie F, Gale DP, Harland C, Johnson SR, Parker A, Sampson JR, Smeaton M, Wright I, O'Callaghan FJ. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM. 2019;112(3):171-182. PMID: 30247655
  51. Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018;128(10):4313-4328. PMID: 30179222
  52. Gale DP, Kleta R. MUC1 makes me miserable. J Am Soc Nephrol. 2018;29(9):2257-2258. PMID: 30120109
  53. Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019;34(7):1175-1189. PMID: 29987460
  54. Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J Am Soc Nephrol. 2018;29(7):1849-1858. PMID 29654216.
  55. Osborne A, Breno M, Ghiringhelli Borsa N, Bu F, Frémeaux-Bacchi V, Gale D, et al. Statistical validation of rare complement variants provides insights on the molecular basis of atypical haemolytic uraemic syndrome and C3 glomerulopathy. J Immunol. 2018;200(7):2464-2478. PMID: 29500241
  56. Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Sci Rep. 2018;8(1):1300. PMID: 29358629
  57. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Koch G, Ouyang J, McQuade RD, Blais JD, Czerwiec FS, Sergeyeva O; REPRISE Trial Investigators. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med. 2017;377(20):1930-1942. PMID: 29105594
  58. Hadinnapola C, Bleda M, Haimel M, Screaton N, … NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH, Gräf S, Morrell NW. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Circulation. 2017;136(21):2022-2033. PMID: 28972005
  59. *Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH and Gale DP. Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. BMC Med Genet. 2017;18(1):79. PMID: 28747166
  60. Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis A, Vergoulas G, Pierides A, Dafnis E, Deltas C. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clin Genet. 2017;92(5):517-527. PMID: 28632965
  61. Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger C, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C. A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PLoS One. 2017;12(3):e0174274. PMID 28334007.
  62. Arno G, Carss KJ, Hull S, … NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Am J Hum Genet. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017; 100(2):334-342. PMID: 28132693
  63. Connor TM, Hoer SS, Mallett  A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Gustafsson CM, Hudson G, Chinnery PF, Maxwell PH. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genet. 2017;13(3):e1006620. PMID: 28267784.
  64. Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson C, Stanescu H, Samani N, Kleta R, Yu X, Barratt J. Galactosylation of IgA1 is associated with common variation in C1GALT1. J Am Soc Nephrol. 2017;28(7):2158-2166. PMID: 28209808
  65. Scully M, Cataland S, Coppo P, de la Rubia J, Friedman KD, Kremer Hovinga J, Lämmle B, Matsumoto M, Pavenski K, Sadler E, Sarode R, Wu H; International Working Group for Thrombotic Thrombocytopenic Purpura. Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies. J Thromb Haemost. 2017;15(2):312-322. PMID 27868334.
  66. Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ; Conference Participants. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2016;91(3):539-551. PMID: 27989322.
  67. Carss KJ, Arno G, Erwood M, …; NIHR-BioResource Rare Diseases Consortium., Webster AR, Raymond FL. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Am J Hum Genet. 2017;100(1):75-90. PMID: 28041643.
  68. *Swift O, Vilar E, Rahman B, Side L, Gale DP. Attitudes in Patients with Autosomal Dominant olycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis. Genet Test Mol Biomarkers. 2016;20(12):741-746. PMID: 27689416.
  69. Kavanagh D, McGlasson S, Jury A, Williams J, Scolding N, Bellamy C, Gunther C, Ritchie D, Gale DP, Kanwar YS, Challis R, Buist H, Overell J, Weller B, Flossman O, Blunden M, Meyer E, Krucker T, Evans SJ, Campbell IL, Jackson AP, Chandran S, Hunt DPJ. Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature. Blood. 2016;128(24):2824-2833. PMID: 27663672.
  70. Ai Z, Li M, Liu W, Foo J-N, Mansouri O, Yin P, Zhou Q, Tang X, Dong X, Feng S, Xu R, Zhong Z, Chen J, Wan J, Lou T, Yu J, Zhou Q, Fan J, Mao H, Gale D, Barratt J, Armour JAL, Liu J, Yu X. Low a-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Sci Transl. Med. 2016;8(345). PMID: 27358498.
  71. Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TMF, Lapsley M, Maxwell PH, Neild GH. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrol Dial Transplant. 2016;31(11):1908-1914. PMID: 27190376.
  72. Gross O, et al. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrol Dial Transplant. 2016;32(6):916-924. PMID: 27190345.
  73. Clissold RL, Oygar DD, Gale DP, Bingham C, Neild GH. HNF1B genetic testing in a Turkish Cypriot population with a high incidence of familial kidney disease. J Nephrol Therapeutics 2016;6:235.
  74. Lin F, Lu W, Gale DP, Yao Y, Zou R, Bian F, Jiang G. Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Exp Ther Med. 2016;11:1249-1252. PMID: 27073431.
  75. Phillips EH, Westwood JP, Brocklebank V, Wong EK, Tellez JO, Marchbank KJ, McGuckin S, Gale DP, Connolly J, Goodship TH, Kavanagh D, Scully MA. The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. J Thromb Haemost. 2016;14(1):175-85. PMID: 26559391.
  76. Chan MM, Gale DP. Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century. Clin Med (Lond). 2015;15(6):576-80. PMID: 26621952.
  77. Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA. A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. Clin Kidney J. 2015;8(1):113-9. PMID: 25713721.
  78. Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP. Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. BMC Genomics. 2015;16:163. PMID: 25888400.
  79. Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G and Gale DP. Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. BMC Nephrol. 2014;15:175. PMID: 25381091.
  80. Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, … Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Nat Genet. 2014;46(11):1187-96. PMID: 25305756.
  81. Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Renault D, Skelding J, Turner N, and Gear S. The 2014 International Workshop on Alport Syndrome. Kidney Int. 2014;86(4):679-84. PMID: 24988067.
  82. Adam J, Connor TM, Wood K, Lewis D, Naik R, Gale DP, Sayer JA. Genetic testing can resolve confusion in Alport syndrome. Clin Kidney J. 2014;7:197-200. PMID: 24944784.
  83. Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT. C3 glomerulopathy: consensus report. Kidney Int. 2013;84(6):1079-89. PMID: 24172683.
  84. Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes. PLoS One. 2013;8(3):e57925. PMID: 23516419.
  85. Gale DP. How benign is hematuria? Using genetics to predict prognosis. Pediatr Nephrol. 2013;28:1183-93. PMID: 23325022.
  86. Connor TMF, Oygar DD, Gale DP, Steenkamp R, Nitsch D, Neild GH, Maxwell PH. Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study. PLoS One. 2013;8(1):e54394. PMID: 23349874.
  87. Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 Glomerulonephritis/CFHR5 Nephropathy Is an Endemic Disease in Cyprus: Clinical and Molecular Findings in 21 Families. Adv Exp Med Biol. 2013;734:189-96. PMID: 23402027.
  88. Gale DP and Maxwell PH. C3 Glomerulonephritis and CFHR5 nephropathy. Nephrol Dial Transplant. 2013;28(2):282-8. PMID: 23125424.
  89. Okada Y, et al. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet. 2012 Jul 15;44(8):904-9. PMID: 22797727
  90. Gale DP and Pickering MC. Regulating complement in the kidney: insights from CFHR5 nephropathy. Dis Model Mech. 2011;4(6):721-6. PMID: 22065842.
  91. Wain LV, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011 Sep 11;43(10):1005-11. PMID: 21909110
  92. Internat Consortium for Blood Pressure Genome-Wide Association Studies. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478(7367):103-9. PMID: 21909115.
  93. Gale DP. The identification of CFHR5 nephropathy. J R Soc Med. 2011;104(5):186-90. PMID: 21558096.
  94. Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C. Familial C3 glomerulopathy associated with CFHR5 mutations: Clinical characteristics of 91 patients in 16 pedigrees. Clin J Am Soc Nephrol. 2011;6(6):1436-46. PMID: 21566112.
  95. Formenti F, Beer PA, Croft QP, Dorrington KL, Gale DP, Lappin TR, Lucas GS, Maher ER, Maxwell PH, McMullin MF, O'Connor DF, Percy MJ, Pugh CW, Ratcliffe PJ, Smith TG, Talbot NP, Robbins PA. Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. FASEB J. 2011;11(1):152-5. PMID: 21389259.
  96. Bond J, Gale DP, Connor T, Adams S, de Boer J, Gascoyne DM, Williams O, Maxwell PH and Ancliff PJ. Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. Blood. 2011;117(13):3699-701. PMID: 21454469.
  97. Vernon KA, Gale DP, de Jorge EG, McLean AG, Galliford J, Pierides A, Maxwell PH, Taube D, Pickering MC, Cook HT. Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant. Am J Transplant. 2011;11(1):152-5. PMID: 21114651.
  98. Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 2010;376(9743):794-801. PMID: 20800271.
  99. Feehally J, Farrall M, Boland A, Gale DP, Gut I, Heath S, Kumar A, Peden JF, Maxwell PH, Morris DL, Padmanabhan S, Vyse TJ, Zawadzka A, Rees AJ, Lathrop M, Ratcliffe PJ. Genome-Wide Analysis Identifies Strong Association Between HLA and IgA Nephropathy. J Am Soc Nephrol. 2010;21(10):1791-7. PMID: 20595679.
  100. Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, … Kooner JS. Genetic loci influencing kidney function and chronic kidney disease.  Nat Genet. 2010;42(5):373-5. PMID: 20383145.
  101. Lou T, Zhang J, Gale DP, Rees AJ, Rhodes B, Feehally J, Li C, Li Y, Li R, Huang W, Hu B, Leung JC, Lam MF, Lai KN, Wang Y, Maxwell PH.. Variation in IGHMBP2 is not associated with IgA Nephropathy in Independent Studies of UK Caucasian and Chinese Han Patients. Nephrol Dial Transplant. 2010;25(5):1547-54. PMID: 20031928.
  102. Gale DP, Maxwell PH. The role of HIF in immunity. Int J Biochem Cell Biol. 2010;42(4):486-94. PMID: 19840863.
  103. Ashby DR, Gale DP, Busbridge M, Murphy KG, Duncan ND, Cairns TD, Taube DH, Bloom SR, Tam FW, Chapman R, Maxwell PH, Choi P. Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin. Haematologica. 2010;95(3):505-8. PMID: 19833632.
  104. Volke M, Gale DP, Maegdefrau U, Schley G, Klanke B, Bosserhoff AK, Maxwell PH, Eckardt KU, Warnecke C. Evidence for a Lack of a Direct Transcriptional Suppression of the Iron Regulatory Peptide Hepcidin by Hypoxia-inducible Factors. PLoS One. 2009;4(11):e7875. PMID: 19924283.
  105. Busbridge M, Griffiths C, Ashby D, Gale D, Jayantha A, Sanwaiya A, Chapman RS.. Development of a novel immunoassay for the iron regulatory peptide hepcidin. Br J Biomed Sci. 2009;66(3):150-7. PMID: 19839227.
  106. Ashby DR, Gale DP, Busbridge M, Murphy KG, Duncan ND, Cairns TD, Taube DH, Bloom SR, Tam FW, Chapman RS, Maxwell PH, Choi P. Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease. Kidney Int. 2009;75(9):976-81. PMID: 19212416.
  107. Gale DP, Harten SK, Reid CD, Tuddenham EG, Maxwell PH. Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation. Blood. 2008;112(3):919-921. PMID: 18650473.
  108. Annear NM, Gale DP, Loughlin S, Dorkins HR, Maxwell PH. Teaching point: End-stage renal failure associated with congenital deafness. NDT Plus. 2008;3:171-175. PMID: 25983868.
  109. Pepper R, Gale DP et al. Inadvertent Postdialysis Coagulopathy due to Heparin Linelocks. Hemodial Int. 2007;11(4):430-434. PMID: 17922740.
  110. Gale DP, Cobbold JC and Chataway J. Steroid-responsive functional B12 deficiency in association with Transcobalamin II polymorphism 776C->G. Eur J Haematol. 2006;76(1):75-78. PMID: 16343274.