Staff Profile

Roles and Responsibilities:

Honorary Consultant Nephrologist, Newcastle upon Tyne Hospitals NHS Foundation Trust.

Clinical Professor of Renal Medicine

Deputy Dean of Clinical Medicine 

Molecular genetics of the cystic kidney disease nephronophthisis and renal ciliopathies

A paradigm states that all genes which are mutated in cystic kidney disease express their protein products in the primary cilia/basal body/centrosome. This implicates the primary cilium and its signalling pathways in the pathophysiology of kidney cyst formation.

Nephronophthisis, which literally means a wasting away of nephrons, is an autosomal recessive cystic kidney disease, which leads to end-stage renal failure within the first three decades of life. Originally described in 1951, its pathophysiology remained a mystery for over 45 years. Linkage studies have now identified several genes involved in nephronophthisis, most recently NPHP6 and AHI1, genes mutated in nephronophthisis associated with retinal degeneration and cerebellar vermis aplasia (Joubert syndrome). The “nephrocystin” proteins all colocalise to renal cilia or centrosome. Despite numerous genetic discoveries however, the mechanisms of disease remain unsolved. A role for nephrocystin proteins may also exist at cell-cell junctions and focal adhesion complexes, perhaps in maintaining planar cell polarity.

A potential clue is that all cystic kidney diseases present with decreased urinary concentration ability and that vasopressin V2 receptor antagonists have been successfully used in some rodent models of cystic kidney disease. In order to understand these processes further we are exploring models of disease to mimic the disease in kidney. These include functional epithelial cell models, developmental models involving Danio rerio and murine knockout models. We have established the use of human urine-derived renal epithelial cells for deep phenotyping of patients. Funding for these experiments has been generously provided by GlaxoSmithKline, as part of a Clinician Scientist fellowship,  the MRC, Kids Kidney Research, Northern Counties Kidney Research Fund and Kidney Research UK.

Undergraduate Teaching

Nephrology Seminars and Clinical Nephrology Lecturer to Medical and Dental Students (MMBS)

BGM2057:The genome: organisation, expression and function

BGM3026 Genetics of development and its disorders

Charlton Scholarship Examiner

Postgraduate Teaching

MRCP part1 Nephrology course

UCL Nephro-urology course

MSc Genomic Medicine

MRES Tutor for Intercalating Medical Students

CMT Core Medical Training teaching

SpR Nephrology teaching

• Articles

  • Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F, Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Uromodulin processing in DNAJB11-kidney disease. Kidney International 2024, 105(2), 376-380.
  • Schonauer R, Sierks D, Boerrigter M, et al, Sayer JA. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology 2024, epub ahead of print.
  • Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP, Abat S, Adalat S, Agbonmwandolor J, Ahmad Z, Alejmi A, Almasarwah R, Asgari E, Ayers A, Baharani J, Balasubramaniam G, Kpodo F, Bansal T, Barratt A, Bates M, Bayne N, Bendle J, Benyon S, Bergmann C, Bhandari S, Boddana P, Bond S, Branson A, Brearey S, Brocklebank V, Budwal S, Byrne C, Cairns H, Camilleri B, Campbell G, Capell A, Carmody M, Carson M, Cathcart T, Catley C, Cesar K, Chan M, Chea H, Chess J, Cheung CK, Chick K-J, Chitalia N, Christian M, Chrysochou T, Clark K, Clayton C, Clissold R, Cockerill H, Coelho J, Colby E, Colclough V, Conway E, Cook HT, Cook W, Cooper T, Crosbie S, Cserep G, Date A, Davidson K, Davies A, Dhaun N, Dhaygude A, Diskin L, Dixit A, Doctolero E, Dorey S, Downard L, Drayson M, Dreyer G, Dutt T, Etuk K, Evans D, Finch J, Flinter F, Fotheringham J, Francis L, Gallagher H, Garcia E, Gavrila M, Gear S, Geddes C, Gilchrist M, Gittus M, Goggolidou P, Goldsmith C, Gooden P, Goodlife A, Goodwin P, Grammatikopoulos T, Gray B, Griffith M, Gumus S, Gupta S, Hamilton P, Harper L, Harris T, Haskell L, Hayward S, Hegde S, Hendry B, Hewins S, Hewitson N, Hillman K, Hiremath M, Howson A, Htet Z, Huish S, Hull R, Humphries A, Hunt DPJ, Hunter K, Hunter S, Ijeomah-Orji M, Inston N, Jayne D, Jenfa G, Jenkins A, Jones CA, Jones C, Jones A, Jones R, Kamesh L, Karim M, Kaur A, Kearley K, Khwaja A, King G, King G, Kislowska E, Klata E, Kokocinska M, Lambie M, Lawless L, Ledson T, Lennon R, Levine AP, Lai LWM, Lipkin G, Lovitt G, Lyons P, Mabillard H, Mackintosh K, Mahdi K, Maher E, Marchbank KJ, Mark PB, Masoud S, Masunda B, Mavani Z, Mayfair J, McAdoo S, Mckinnell J, Melhem N, Meyrick S, Morgan P, Morgan A, Muhammad F, Murray S, Novobritskaya K, Ong AC, Oni L, Osmaston K, Padmanabhan N, Parkes S, Patrick J, Pattison J, Paul R, Percival R, Perkins SJ, Persu A, Petchey WG, Pickering MC, Pinney J, Plumb L, Plummer Z, Popoola J, Post F, Power A, Pratt G, Pusey C, Rabara R, Rabuya M, Raju T, Javier C, Roberts ISD, Roufosse C, Rumjon A, Salama A, Sandford R, Sandu KS, Sarween N, Sebire N, Selvaskandan H, Sharma A, Sharples EJ, Sheerin N, Shetty H, Shroff R, Sinha M, Smith K, Smith L, Stott I, Stroud K, Swift P, Szklarzewicz J, Tam F, Tan K, Taylor R, Tischkowitz M, Thomas K, Tse Y, Turnbull A, Turner AN, Tyerman K, Usher M, Venkat-Raman G, Walker A, Watt A, Webster P, Wechalekar A, Welsh GI, West N, Wheeler D, Wiles K, Willcocks L, Williams A, Williams E, Williams K, Wilson DH, Wilson PD, Winyard P, Wood G, Woodward E, Woodward L, Woolf A, Wright D. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet 2024, 403(10433), 1279-1289.
  • Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Carrascosa MP, Scola CL, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Sancho PA, Schild R, Sinha R, Guarino S, Jimenez VM, Pena LR, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, Bockenhauer D, Wasilewska A, Longo G, Espinosa L, Miglinas M, Stroescu R, Huseynova S, Stabouli S, Sathyanarayana V, Andronesi AG, Hahn D, Sharma D, Petrosyan E, Frangou E, Mohebbi N, Dincel NT, Braconnier P, Gilbert RD, Sambo A, Tasic V, Henne T. Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology Dialysis Transplantation 2023, 38(10), 2120-2130.
  • Geraghty RM, Wilson I, Olinger E, Cook P, Troup S, Kennedy D, Rogers A, Somani BK, Dhayat NA, Fuster DG, Sayer JA. Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study. Journal of Endourology 2023, 37(12), 1295-1304.
  • Schonauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Poschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Munch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noe F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel A-L, Perrin L, Spiewak H, Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Bluher M, Sayer JA, Halbritter J. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. American Journal of Human Genetics 2023, 110(6), 998-1007.
  • Orr S, Olinger E, Iosifidou S, Barroso-Gil M, Neatu R, Wood K, Wilson I, Sayer JA. Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. Annals of Human Genetics 2023, epub ahead of print.
  • Kamali F, Jamee M, Sayer JA, Sadeghi-Bojd S, Golchehre Z, Dehghanzad R, Keramatipour M, Mohkam M. Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature. CEN Case Reports 2023, 12(4), 413-418.
  • Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrology Dialysis Transplantation 2023, 38(2), 271-282.
  • Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Pereira MB, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Larsen M, Hertz JM, Lilien MR, Obeidova L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease. Kidney International 2023, epub ahead of print.
  • Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu C-HW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schonauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics in Medicine 2023, 25(3), 100351.
  • 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. Annals of Human Genetics 2022, 86(3), 145-152.
  • Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grunewald I, Konrad M, Konig J, Schlevogt B, Sayer JA, Bergmann C. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. American Journal of Human Genetics 2022, 109(5), 928-943.
  • Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefevre S, Knebelmann B, Harris PC, Trouve P, Despres A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R, Le Meur Y, Audrezet M-P, Cornec-Le Gall E. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. American Journal of Human Genetics 2022, 109(8), 1484-1499.
  • Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrezet M-P, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Harris PC. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. American Journal of Human Genetics 2022, 109(1), 136-156.
  • Al-Hamed MH, Sayer JA, Alsahan N, Edwards N, Ali W, Tulbah M, Imtiaz F. Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. Genes 2022, 13(10), 1687.
  • Al-Hamed MH, Hussein MH, Shah Y, Al-Mojalli H, Alsabban E, Alshareef T, Altayyar A, Elshouny S, Ali W, Abduljabbar M, AlOtaibi A, AlShammasi A, Akili R, Abouelhoda M, Sayer JA, Dasouki MJ, Imtiaz F. Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients. Human Mutation 2022, 43(12), e24-e37.
  • Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schurfeld C, Seitz R, Bernhardt W, Godel M, Wiesener A, Popp B, Stark KJ, Grone H-J, Friedrich B, Weiss M, Basic-Jukic N, Schiffer M, Schroppel B, Huettel B, Beck BB, Sayer JA, Ziegler C, Buttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International 2022, 102(2), 405-420.
  • Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K, Sayer JA. Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics 2022, 190(1), 109-120.
  • Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E, Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical Genetics 2022, 103(3), 330-334.
  • Muller R-U, Messchendorp AL, Birn H, Capasso G, Cornec-Le Gall E, Devuyst O, van Eerde A, Guirchoun P, Harris T, Hoorn EJ, Knoers NVAM, Korst U, Mekahli D, Le Meur Y, Nijenhuis T, Ong ACM, Sayer JA, Schaefer F, Servais A, Tesar V, Torra R, Walsh SB, Gansevoort RT. An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Nephrology, Dialysis, Transplantation 2022, 37(5), 825-839.
  • Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibanez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntegart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Pereira MB, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska KA, Wood SM. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: Cohort study. The BMJ 2021, 375, e066288.
  • Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA. Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Molecular Genetics and Genomic Medicine 2021, 9(12), e1603.
  • Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000Research 2021, 10, 207.
  • Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Human Genetics 2021, 141, 101-126.
  • Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F. Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. Journal of Nephrology 2021, 34, 893-900.
  • Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. Brain Communications 2021, 3(3), fcab163.
  • Cardenas-Rodriguez M, Austin-Tse C, Bergboer JGM, Molinari E, Sugano Y, Bachmann-Gagescu R, Sayer JA, Drummond IA. Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science 2021, 134(14), jcs258568.
  • Al Alawi I, Powell L, Rice SJ, Al Riyami MS, Al-Riyami M, Al Salmi I, Sayer JA. Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. Frontiers in Genetics 2021, 12, 791495.
  • Cairns G, Burte F, Price R, O'Connor E, Toms M, Mishra R, Moosajee M, Pyle A, Sayer JA, Yu-Wai-Man P. A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay. Scientific Reports 2021, 11, 20491.
  • Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human Mutation 2021, 42(10), 1221-1228.
  • Turro E, Astle WJ, Graf S, Greene D, Allen HL, Frontini M, Stephens J, Downes K, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Caulfield MJ, Chinnery PF, Dixon PH, James R, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Tan RYY, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Abbs S, Abulhoul L, Adlard J, Ahmed M, Aitman TJ, Alachkar H, Allsup DJ, Almeida-King J, Ancliff P, Antrobus R, Armstrong R, Arno G, Ashford S, Astle WJ, Attwood A, Aurora P, Babbs C, Bacchelli C, Bakchoul T, Banka S, Bariana T, Barwell J, Batista J, Baxendale HE, Beales PL, Bennett DL, Bentley DR, Bentley DR, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Black GC, Bleda M, Blesneac I, Bockenhauer D, Bogaard H, Bourne CJ, Boyce S, Bradley JR, Bragin E, Breen G, Brennan P, Brewer C, Brown M, Browning AC, Browning MJ, Buchan RJ, Buckland MS, Bueser T, Diz CB, Burn J, Burns SO, Burren OS, Burren OS, Burrows N, Calleja P, Campbell C, Carr-White G, Carss K, Carss K, Casey R, Caulfield MJ, Chambers J, Chambers J, Chan MMY, Cheah C, Cheng F, Chinnery PF, Chitre M, Christian MT, Church C, Clayton-Smith J, Cleary M, Brod NC, Coghlan G, Colby E, Cole TRP, Collins J, Collins PW, Colombo C, Compton CJ, Condliffe R, Cook S, Cook HT, Cooper N, Corris PA, Furnell A, Cunningham F, Curry NS, Cutler AJ, Daniels MJ, Dattani M, Daugherty LC, Davis J, De Soyza A, Deevi SVV, Dent T, Deshpande C, Dewhurst EF, Dixon PH, Douzgou S, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards K, Egner W, Ekani MN, Elliott P, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Fassihi H, Favier R, Findhammer J, Fletcher D, Flinter FA, Floto RA, Fowler T, Fox J, Frary AJ, French CE, Freson K, Frontini M, Gale DP, Gale DP, Gall H, Ganesan V, Gattens M, Geoghegan C, Gerighty TSA, Gharavi AG, Ghio S, Ghofrani H-A, Gibbs JSR, Gibson K, Gilmour KC, Girerd B, Gleadall NS, Goddard S, Goldstein DB, Gomez K, Gordins P, Gosal D, Graf S, Graham J, Grassi L, Greene D, Greenhalgh L, Greinacher A, Gresele P, Griffiths P, Grigoriadou S, Grocock RJ, Grozeva D, Gurnell M, Hackett S, Hadinnapola C, Hague WM, Hague R, Haimel M, Haimel M, Hall M, Hanson HL, Haque E, Harkness K, Harper AR, Harris CL, Hart D, Hassan A, Hayman G, Henderson A, Herwadkar A, Hoffman J, Holden S, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes J, Huissoon AP, Humbert M, Humphray S, Hunter S, Hurles M, Irving M, Izatt L, James R, Johnson SA, Jolles S, Jolley J, Josifova D, Jurkute N, Karten T, Karten J, Kasanicki MA, Kazkaz H, Kazmi R, Kelleher P, Kelly AM, Kelsall W, Kempster C, Kiely DG, Kingston N, Klima R, Koelling N, Kostadima M, Kovacs G, Koziell A, Koziell A, Kreuzhuber R, Kuijpers TW, Kumar A, Kumararatne D, Kurian MA, Laffan MA, Lalloo F, Lambert M, Allen HL, Lawrie A, Layton DM, Lench N, Lentaigne C, Lester T, Levine AP, Linger R, Longhurst H, Lorenzo LE, Louka E, Lyons PA, Machado RD, MacKenzie Ross RV, Madan B, Maher ER, Maimaris J, Malka S, Mangles S, Mapeta R, Mapeta R, Marchbank KJ, Marks S, Markus HS, Marschall H-U, Marshall A, Martin J, Mathias M, Matthews E, Maxwell H, McAlinden P, McCarthy MI, McKinney H, McMahon A, Meacham S, Mead AJ, Castello IM, Megy K, Megy K, Mehta SG, Michaelides M, Millar C, Mohammed SN, Moledina S, Montani D, Moore AT, Morales J, Morrell NW, Mozere M, Muir KW, Mumford AD, Nemeth AH, Newman WG, Newnham M, Noorani S, Nurden P, O'Sullivan J, Obaji S, Odhams C, Okoli S, Olschewski A, Olschewski H, Ong KR, Oram SH, Ormondroyd E, Ormondroyd E, Ouwehand WH, Palles C, Papadia S, Park S-M, Parry D, Patel S, Paterson J, Peacock A, Pearce SH, Peden J, Peerlinck K, Pepke-Zaba J, Petersen R, Pilkington C, Poole KES, Prathalingam R, Psaila B, Pyle A, Quinton R, Rahman S, Rankin S, Rao A, Raymond FL, Rayner-Matthews PJ, Rees C, Rendon A, Renton T, Rhodes CJ, Rice ASC, Richardson S, Richter A, Robert L, Roberts I, Rogers A, Rose SJ, Ross-Russell R, Roughley C, Roy NBA, Ruddy DM, Sadeghi-Alavijeh O, Saleem MA, Samani N, Samarghitean C, Sanchis-Juan A, Sanchis-Juan A, Sargur RB, Sarkany RN, Satchell S, Savic S, Sayer JA, Sayer G, Scelsi L, Schaefer AM, Schulman S, Scott R, Scully M, Searle C, Seeger W, Sen A, Sewell WAC, Seyres D, Shah N, Shamardina O, Shamardina O, Shapiro SE, Shaw AC, Short PJ, Sibson K, Side L, Simeoni I, Simpson MA, Sims MC, Sivapalaratnam S, Smedley D, Smith KR, Smith KGC, Snape K, Soranzo N, Soubrier F, Southgate L, Spasic-Boskovic O, Staines S, Staples E, Stark H, Stark H, Stephens J, Steward C, Stirrups KE, Stuckey A, Suntharalingam J, Swietlik EM, Syrris P, Tait RC, Talks K, Tan RYY, Tate K, Taylor JM, Taylor JC, Thaventhiran JE, Themistocleous AC, Themistocleous AC, Thomas E, Thomas D, Thomas MJ, Thomas P, Thomson K, Thrasher AJ, Threadgold G, Thys C, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tolhuis B, Tomlinson IP, Toshner M, Traylor M, Treacy C, Treadaway P, Trembath R, Tuna S, Turek W, Turro E, Twiss P, Vale T, Geet CV, Zuydam N, Vandekuilen M, Vandersteen AM, Vazquez-Lopez M, von Ziegenweidt J, Noordegraaf AV, Wagner A, Waisfisz Q, Walker SM, Walker N, Walter K, Ware JS, Watkins H, Watt C, Webster AR, Wedderburn L, Wei W, Welch SB, Wessels J, Westbury SK, Westwood J-P, Wharton J, Whitehorn D, Whitworth J, Wilkie AOM, Wilkins MR, Williamson C, Wilson BT, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Wort SJ, Worth A, Wright M, Yates K, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, 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, 96-102.
  • Molinari E, Srivastava S, Dewhurst RM, Sayer JA. Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles. BMC Nephrology 2020, 21(1), 435.
  • Mabillard H, Sayer JA. SGLT₂ inhibitors - a potential treatment for Alport syndrome. Clinical Science 2020, 134(4), 379-388.
  • Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. Proceedings of the National Academy of Sciences of the United States of America 2020, 117(2), 1113-1118.
  • Al-Hamed MH, Alsahan N, Tulbah M, Kurdi W, Ali W, Sayer JA, Imtiaz F. Fetal anomalies associated with novel pathogenic variants in TMEM94. Genes 2020, 11(9), 967.
  • Powell L, Barroso-Gil M, Clowry GJ, Devlin LA, Molinari E, Ramsbottom SA, Miles CG, Sayer JA. Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. BMC Developmental Biology 2020, 20(1), 26.
  • Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA. Embryonic and foetal expression patterns of the ciliopathy gene CEP164. PLoS ONE 2020, 15(1), e0221914.
  • Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome. Kidney International Reports 2020, 5(10), 1823-1827.
  • Molinari E, Sayer JA. Disease modeling to understand the pathomechanisms of human genetic kidney disorders. Clinical Journal of the American Society of Nephrology 2020, 15(6), 855-872.
  • Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gracia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E. Cystinuria: clinical practice recommendation. Kidney International 2020, 99(1), 48-58.
  • 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, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Zivna M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ, Devuyst O. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney International 2020, 98(3), 717-731.
  • Al Alawi I, Molinari E, Al Salmi I, Al Rahbi F, Al Mawali A, Sayer JA. Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman. BMC Nephrology 2020, 21(1), 347.
  • Sayer JA, Mabillard H, Tedd H, Speight A, Duncan C, Price DA. Case Report: Renal potassium wasting in SARS-CoV-2 infection. F1000Research 2020, 9, 659.
  • Geraghty R, Wood K, Sayer JA. Calcium oxalate crystal deposition in the kidney: identification, causes and consequences. Urolithiasis 2020, 48, 377-384.
  • Griffin TP, Joyce CM, Alkanderi S, Blake LM, O'Keeffe DT, Bogdanet D, Islam MN, Dennedy MC, Gillan JE, Morrison JJ, O'Brien T, Sayer JA, Bell M, O'Shea PM. Biallelic CYP24A1 variants presenting during pregnancy: Clinical and biochemical phenotypes. Endocrine Connections 2020, 9(6), 530-541.
  • Molinari E, Ramsbottom SA, Srivastava S, Booth P, Alkanderi S, McLafferty SM, Devlin LA, White K, Gunay-Aygun M, Miles CG, Sayer JA. Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. Scientific Reports 2019, 9(1).
  • Olahova M, Berti CC, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Human Molecular Genetics 2019, 28(22), 3766-3776.
  • Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM. Homozygous variant in ARL3 causes autosomal recessive cone rod dystrophy. Investigative Ophthalmology and Visual Science 2019, 60(14), 4811-4819.
  • 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.
  • Schonauer R, Petzold F, Lucinescu W, Seidel A, Muller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J. Evaluating pathogenicity of SLC₃₄A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. Urolithiasis 2019, 47, 511-519.
  • Willows J, Al Badi M, Richardson C, Al Sinani A, Edwards N, Rice SJ, Sayer JA. Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report . F1000Research 2019, 8, 666.
  • Frikstad K-AM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S. A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling. Cell Reports 2019, 28(7), 1907-1922.
  • Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney International 2018, 93(1), 204-213.
  • Sayer JA, McCloskey S, Brennan P. Variable phenotypic presentations of renal involvement in Fabry disease: A case series [version 1; referees: 2 approved]. F1000Research 2018, 7, 356.
  • Molinari E, Ramsbottom SA, Sammut V, Hughes FEP, Sayer JA. Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]. F1000Research 2018, 7, 1133.
  • Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model. Proceedings of the National Academy of Sciences of the United States of America 2018, 115(49), 12489-12494.
  • Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model. National Academy of Sciences. Proceedings (PNAS) 2018, 115(49), 12489-12494.
  • Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European Journal of Human Genetics 2018, 26, 1791-1796.
  • Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiological Reports 2018, 6(12), e13715.
  • Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van'tHoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. Journal of the American Society of Nephrology 2018, 29(3), 1041-1048.
  • Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. The American Journal of Human Genetics 2018, 103(4), 612-620.
  • Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Clinical Journal of the American Society of Nephrology 2017, 12(12), 1962-1973.
  • Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Prospective evaluation of kidney disease in Joubert syndrome. Clinical Journal of the American Society of Nephrology 2017, 12(12), 1962-1973.
  • Connor TM, Hoer S, 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, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genetics 2017, 13(3), e1006620.
  • Mabillard H, Srivastava S, Haslam P, Karasek M, Sayer JA. Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease. Case Reports in Nephrology 2017, 2017, 4653267.
  • Al Alawi I, Al Salmi I, Al Mawali A, Sayer JA. Kidney disease in oman: A view of the current and future landscapes. Iranian Journal of Kidney Diseases 2017, 11(4), 263-270.
  • Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific Reports 2017, 7, 14595.
  • Molinari E, Srivastava S, Sayer JA, Ramsbottom SA. From disease modelling to personalised therapy in patients with CEP290 mutations. F1000 Research 2017, 6, 669.
  • Al Alawi I, Al Salmi I, Al Mawali A, Al Maimani Y, Sayer JA. End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases. International Journal of Nephrology 2017, 2017, 6403985.
  • Sayer JA, Iqbal Z. Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives. F1000Research 2017, 6, 470.
  • Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA. A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion. Nephrology Dialysis Transplantation 2017, gfx066.
  • Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies. Human Molecular Genetics 2017, 26(23), 4657-4667.
  • Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney International 2016, 89(2), 468-475.
  • Al-Hamed MH, Kurdi W, Alsahan N, Ambosaidi Q, Tulbah M, Sayer JA. Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. Clinical Kidney Journal 2016, 9(6), 807-810.
  • Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan WZ, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clinical Journal of the American Society of Nephrology 2016, 11(4), 664-672.
  • Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan WZ, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Mutations in SLC26A1 Cause Nephrolithiasis. American Journal of Human Genetics 2016, 98(6), 1228-1234.
  • Haghighi A, Borhany M, Ghazi A, Edwards N, Tabaksert A, Haghighi A, Fatima N, Shamsi TS, Sayer JA. Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. Clinical Genetics 2016, 89(2), 187-192.
  • Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA. Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. Genetics and Molecular Research 2015, 14(2), 3618-3624.
  • Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li CM, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. Journal of Cell Biology 2015, 209(1), 129-142.
  • Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, Goodship JA, Otto EA. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. BMC Medical Genetics 2015, 16, 35.
  • Ramsbottom S, Miles C, Sayer J. Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles. F1000 Research 2015, 4, 590.
  • Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis. Journal of the American Society of Nephrology 2015, 26(3), 543-551.
  • Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Evidence of digenic inheritance in Alport syndrome. Journal of Medical Genetics 2015, 52(3), 163-174.
  • Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH. DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. Journal of Clinical Investigation 2015, 125(9), 3657-3666.
  • Rhodes HL, Yarram L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJM. Clinical and genetic analysis of patients with cystinuria in the UK. Clinical Journal of the American Society of Nephrology 2015, 10(7), 1235-1245.
  • Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale D, Sayer JA. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’. Clinical Kidney Journal 2015, 8(1), 113-119.
  • Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S, Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proceedings of the National Academy of Sciences of the United States of America 2014, 111(27), 9893-9898.
  • Al-Hamed MH, Al-Sabban E, Al-Mojalli H, Al-Harbi N, Faqeih E, Al Shaya H, Alhasan K, Al-Hissi S, Rajab M, Edwards N, Al-Abbad A, Al-Hassoun I, Sayer JA, Meyer BF. A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. Journal of Human Genetics 2013, 58(7), 480-489.
  • Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Ysunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Joles JA, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EYHP, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012, 150(3), 533-548.
  • Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA. A meckelin-filamin A interaction mediates ciliogenesis. Human Molecular Genetics 2012, 21(6), 1272-1286.
  • Simms RJ, Hynes AM, Eley L, Inglis D, Chaudhry B, Dawe HR, Sayer JA. Modelling a ciliopathy: ahi1 knockdown in model systems reveals an essential role in brain, retinal and renal development. Cellular and Molecular Life Sciences 2011, 69(6), 993-1009.
  • Tasic V, Hynes AM, Kitamura K, Il Cheong H, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA. Clinical and Functional Characterization of URAT1 Variants. PLoS One 2011, 6(12), e28641.
  • Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MTF. Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD. American Journal of Kidney Diseases 2011, 58(5), 821-825.
  • Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CWA, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MTF. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human Molecular Genetics 2010, 19(10), 1985-1997.
  • Shawcross J, Sayer J. Secondary hyperparathyroidism in a poorly compliant patient. QJM 2010, 103(2), 125.
  • O'Toole JF, Liu YJ, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Karppa M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou WB, Wolf MTF, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson P, Khanna H, Katsanis N, Hildebrandt F. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. Journal of Clinical Investigation 2010, 120(3), 791-802.
  • Carr G, Moochhala SH, Eley L, Vandewalle A, Simmons NL, Sayer JA. The Pyrophosphate Transporter ANKH is Expressed in Kidney and Bone Cells and Colocalises to the Primary Cilium/Basal Body Complex. Cellular Physiology and Biochemistry 2009, 24(5-6), 595-604.
  • Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F. Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. Clinical Genetics 2009, 76(4), 413-416.
  • Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney International 2008, 74(9), 1139-1149.
  • Schafer T, Putz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Human Molecular Genetics 2008, 17(23), 3655-3662.
  • Wolf MTF, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney International 2007, 72(12), 1520-1526.
  • Carr G, Sayer JA, Simmons NL. Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cellular Physiology and Biochemistry 2007, 20(5), 507-516.
  • Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. 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. Human Molecular Genetics 2006, 15(11), 1847-1857.
  • Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology 2006, 21(1), 32-35.
  • Moore I, Sayer JA, Nayar A, Ahmed S, Tapson JS. Pantoprazole-induced acute interstitial nephritis. Journal of Nephrology 2004, 17(4), 580-581.
  • Moore I, Ahmed S, Sayer JA, Ward MK. Digital ischaemia in a renal transplant patient. Nephrology Dialysis Transplantation 2004, 19(6), 1656-1657.
  • Sayer JA, Carr G, Simmons NL. Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2004, 1689(1), 83-90.
  • Sayer JA, Carr G, Pearce SHS, Goodship THJ, Simmons NL. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochemical and Biophysical Research Communications 2003, 300(2), 305-310.
  • Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA. 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. Human Molecular Genetics 2002, 11(26), 3345-3350.
  • Sayer JA, Stewart GS, Boese SH, Gray MA, Pearce SHS, Goodship THJ, Simmons NL. The voltage-dependent of Cl- channel ClC-5 and plasma membrane Cl- conductances of mouse renal collecting duct cells (mIMCD-3). Journal of Physiology 2001, 536(3), 769-783.

• Book Chapters

  • Sayer J, Raman S, Srivastava S. Ciliopathies and nephronophthisis. In: Clinical Pediatric Nephrology: Third Edition. Boca Raton: CRC Press, 2016, pp.889-897.
  • Boese S, Sayer J, Stewart G, Glanville M, Gray MA, Simmons NL. Renal expression of Ca2+-activated Cl- channels. In: Fuller, C.M, ed. Calcium-Activated Chloride Channels. Amsterdam & London: Academic Press, 2002, pp.283-307.

• Conference Proceedings (inc. Abstracts)

  • Rice S, Edwards N, Sayer J, Thwaites D. The Effect of a Novel rBAT Mutation on the Expression and Function of System b(o,+). In: Experimental Biology 2015. 2015, Boston, USA: Federation of American Societies for Experimental Biology.
  • Srivastava S, Hynes AM, Miles C, Giles RH, Sayer JA. Studying mechanisms underlying cystogenesis in NPHP6 in an ex vivo murine collecting duct cell line. In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
  • Montgomery EK, Sayer JA. Phenotypic analysis of a cohort of patients with hepatocyte nuclear factor 1 beta (HNF1b) mutations. In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
  • Kelly MJ, Beck BB, Wolf M, Sayer JA. Clinical and Molecular Genetic Correlations in Families with UMOD Variants. In: Nephrology Dialysis Transplantation. 2015, London, UK: Oxford University Press.
  • Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Smithson S, Woodward MN, Tomson C, Welsh GI, Williams M, Thwaites D, Sayer JA, Coward RJM. Clinical and Genetic Analysis of a Cohort of English Cystinuria Patients. In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
  • Sayer JA, Carr G, Moochhala SH, Simmons NL. Pyrophosphate Transport and Stones. In: Renal Stone Disease: No. 2: 2nd International Urolithiasis Research Symposium. 2008, Indianapolis, IN: American Institute of Physics.
  • Sayer J, Hogg P. Biochemical abnormalities in renal stone formers attending for lithotripsy. In: XLIV Congress of the European Renal Association European Dialysis and Transplant Association (ERA-EDTA). 2007, Barcelona, Spain: OXFORD UNIV PRESS.

• Editorials

  • Iqbal Z, Sayer JA. Chondrocalcinosis and Gitelman syndrome. QJM: an international journal of medicine 2016, 109(8), 563-564.
  • Sayer JA. Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis. European Urology 2015, 68(1), 164-165.
  • Brady M, Montgomery E, Brennan P, Mohindra R, Sayer JA. Diagnosing Fabry disease-delays and difficulties within discordant siblings. QJM 2015, 108(7), 585-590.
  • Sayer JA, Simms RJ. The challenges and surprises of a definitive molecular genetic diagnosis. Kidney International 2014, 85(4), 748-749.

• Letters

  • Al-Hamed MH, Alzaidan H, Hussein M, Albaik L, Qari A, Sayer JA, Imtiaz F. Novel pathogenic MAPKBP1 variant in a family with nephronophthisis. Clinical Kidney Journal 2021, 14(2), 728-730.
  • Geraghty RM, Wilson I, Sayer JA. Regarding “Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis”. Kidney International 2020, 98(5), 1347-1347.
  • Barroso-Gil M, Powell L, Sayer JA. RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric Neurology 2020, 112, 10-10.
  • Willows J, Sayer JA. CYP2AA1 mutations and hypervitaminosis D. Clinical Medicine, Journal of the Royal College of Physicians of London 2019, 19(1), 92-93.
  • Hill FJ, Sayer JA. Re: Sagy I, Zeldetz V, Halerin D, Abu Tailakh M, Novack V. The effect of Ramadan fast on the incidence of renal colic emergency department visits. QJM 2018, 111(5), 353-354.
  • Hill FJ, Sayer JA. Re: Ghebre Y., Raghu G. Proton pump inhibitors in IPF: beyond mere suppression of gastric acidity. QJM: An International Journal of Medicine 2016; 109:577–9. QJM 2017, 110(4), 261-261.
  • Sayer JA, Haslam P, Brennan P. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney International 2008, 74(10), 1366.
  • Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nature Genetics 2007, 39(8), 1018-1024.
  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics 2006, 38(6), 674-681.
  • Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics 2005, 37(3), 282-288.

• Notes

  • Sayer JA. Re: Genetic Architecture of Azoospermia—Time to Advance the Standard of Care. European Urology 2023, 84(5), 511-511.
  • Olinger E, Wilson I, Devuyst O, Sayer JA. Kidney traits on repeat—the role of MUC1 VNTR. Kidney International 2022, 101(5), 863-866.
  • Geraghty R, Olinger E, Sayer JA. Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases. Kidney International 2021, 99(6), 1255-1259.

• Reviews

  • Pournasiri Z, Madani A, Nazarpack F, Sayer JA, Chavoshzadeh Z, Nili F, Tran P, Saba JD, Jamee M. Sphingosine phosphate lyase insufficiency syndrome: a systematic review. World Journal of Pediatrics 2023, 19, 425-437.
  • Dewhurst RM, Molinari E, Sayer JA. Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies. Microfluidics and Nanofluidics 2023, 27(3), 21.
  • Devlin L, Dhondurao Sudhindar P, Sayer JA. Renal ciliopathies: promising drug targets and prospects for clinical trials. Expert Opinion on Therapeutic Targets 2023, 27(4-5), 325-346.
  • Esson GA, Hussain AB, Meggitt SJ, Reynolds NJ, Sayer JA. Cutaneous manifestations of acute kidney injury. Clinical Kidney Journal 2022, 15(5), 855-864.
  • Barroso-Gil M, Olinger E, Sayer JA. Molecular genetics of renal ciliopathies. Biochemical Society Transactions 2021, 49(3), 1205-1220.
  • Dewhurst RM, Molinari E, Sayer JA. Cell preservation methods and its application to studying rare disease. Molecular and Cellular Probes 2021, 56, 101694.
  • Powell L, Samarakoon YH, Ismail S, Sayer JA. ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses. Small GTPases 2021, 12(3), 167-176.
  • Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Heon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics, Part A 2020, 182(1), 229-249.
  • Mabillard H, Sayer JA. Electrolyte Disturbances in SARS-CoV-2 Infection. F1000Research 2020, 9, 587.
  • Devlin LA, Sayer JA. Renal ciliopathies. Current Opinion in Genetics and Development 2019, 56, 49-60.
  • Hill F, Sayer JA. Precision medicine in renal stone-formers. Urolithiasis 2019, 47(1), 99-105.
  • Srivastava S, Molinari E, Raman S, Sayer JA. Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Frontiers in Pediatrics 2018, 5, 287.
  • Sayer JA. Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis. Journal of the American Society of Nephrology : JASN 2017, 28(3), 748-759.
  • Molinari E, Sayer JA. Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease. Expert Opinion on Orphan Drugs 2017, 5(10), 785-798.
  • Sayer J. Renal stone disease. Nephron - Physiology 2011, 118(1), 35-44.