缅北禁地

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Staff Profile

Professor John Sayer

Clin Prof of Renal Medicine

  • Telephone: +44 (0) 191 241 8608
  • Personal Website: /medical-sciences/people/profile/johnsayer.html
  • Address: Institute of Genetic Medicine
    International Centre for Life
    University of 缅北禁地 upon Tyne
    缅北禁地 upon Tyne
    NE1 3BZ
Background

Roles and Responsibilities:

Honorary Consultant Nephrologist, 缅北禁地 upon Tyne Hospitals NHS Foundation Trust.

Clinical Professor of Renal Medicine

Deputy Dean of Clinical Medicine 

Research

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.

 

Teaching

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

 

 

Publications

  • Articles

    • Wongboonsin J, Gibson KM, Ke J, Sentell ZT, Arcila-Galvis JE, Koyama S, Greenberg A, Reynolds KM, Montini G, Magistroni R, Mitrotti A, Gesualdo L, Pezzuto A, Peruzzi L, Caliskan Y, Onuchic-Whitford AC, Bunlungsup S, McNulty M, Gbadegesin R, Saleem MA, Pollak MR, Hildebrandt F, Natarajan P, Lee D, Nigwekar SU, Sayer JA, Sanna-Cherchi S, Sampson MG. . Kidney International 2026, Epub ahead of print.
    • Menguy L, Hudier L, Zaidan M, Knebelmann B, Sayer JA, Arcila-Galvis J, Arondel C, Hummel A, Dorval G, Moriniere V, Fula-Pitu L, Guerrera C, Buob D, Rabeyrin M, Marijon P, Jean-Marcais N, Fournier C, Duong Van Huyen J-P, Antignac C, Saunier S, Heidet L. . Kidney International 2026, 109(2), 354-364.
    • Mcanallen SM, Elhassan EAE, Stoneman S, Vairo FPE, Hogan MC, Hoefele J, Clince M, Mekraksakit P, Titan SM, Jorge S, Calado J, Decramer S, Colliou E, Tellier S, Francisco T, Servais A, Cornet J, De Fallois J, Dossier C, Fenoglio R, Renieri A, Pinto AM, Daga S, Loberti L, Fila M, Quintana LF, Becherucci F, Godefroid N, Dubrasquet A, Kalman T, Dolan N, Alawi BA, Sweeney C, Riordan M, Stack M, Awan A, Hui NK, Mccarthy HJ, Biros E, Harris T, Kidd K, Haeberle S, Bleyer AJ, Mallett AJ, Sayer JA, Schafer F, Benson KA, Mccann E, Conlon PJ. . Nephrology Dialysis Transplantation 2026, 41(1), 79-91.
    • Clince M, Elhassan EAE, Kidd KO, Malamud E, McAnallen SM, Danial A, Chung BH, Kim M, Sayer JA, Al Alawi I, Bernards J, Jerbi M, Goucha R, Ben Jemaa L, Rejeb I, Patel C, Mallett AJ, Sperati CJ, de Boeck K, Muller M, Stehle T, Guebessi NB, Robert T, Ivanyi B, Csaszar I, Shril S, Zheng S, Mathew GG, Dirim MG, Dirim AB, Mesnard L, Gueguen L, Schafer F, Bergmann C, Gale DP, Halbritter J, Claes KJ, Knebelmann B, Zivna M, Kmoch S, Faguer S, Hildebrandt F, Bleyer AJ, Conlon PJ. . Kidney International 2026, Epub ahead of print.
    • Wedd L, Hort Y, Patel C, Sayer JA, Rius R, Mallett AJ, Cottle DL, Smyth IM, Furlong T, Shine J, Mallawaarachchi A. . European Journal of Human Genetics 2026, 34, 61-69.
    • Sudhindar PD, Orr SE, Miller-Hodges E, Molinari E, Wood K, Srivastava S, Miles CG, Mabillard HR, Sentell ZT, Trevisan-Herraz M, Arcila-Galvis JE, Sayer JA. . Clinical Science 2025, 139(14), 791-808.
    • Sudhindar PD, Olinger E, Sentell ZT, Mabillard H, Dicka B, Wood K, Rutland D, Collins C, Trevisan-Herraz M, Sayer JA, Arcila-Galvis JE. . Journal of Cell Science 2025, 138(20), jcs264141.
    • Patel MM, Gerakopoulos V, Lettenmaier B, Petsouki E, Zimmerman KA, Sayer JA, Tsiokas L. . EMBO Molecular Medicine 2025, 17(6), 1238-1258.
    • Gillespie H, Ng YS, Wood KM, Hopton S, Alston CL, Blakely EL, Thompson N, Taylor RW, Browning AC, McFarland R, Sayer JA. . Journal of Rare Diseases 2025, 4, 47.
    • Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, Garcia-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. . Nature 2025, Epub ahead of print.
    • Masoud S, Wong K, Pitcher D, Downward L, Proudfoot C, Webb NJA, Abat S, Adalat S, Agbonmwandolor J, Ahmad Z, Alejmi A, Almasarwah R, Annear N, Araujo M, Asgari E, Ayers A, Baharani J, Balasubramaniam G, Jo-Bamba Kpodo F, Bailey L, Bansal T, Barratt A, Barratt J, Bates M, Bayne N, Bendle J, Benyon S, Bergmann C, Bhandari S, Bingham C, Boddana P, Bond S, Braddon F, Bramham K, Branson A, Brearey S, Bridgett V, 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, Coward RJ, Crosbie S, Cserep G, Date A, Davidson K, Davies A, Dhaun N, Dhaygude A, Diskin L, Dixit A, Doctolero EA, Dorey S, Downard L, Drayson M, Dreyer G, Dutt T, Etuk K, Evans D, Finch J, Flinter F, Fotheringham J, Francis L, Gale DP, Gale DP, Gallagher H, Game D, Garcia EL, 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, Guzman R, Hamilton P, Hamrang-Yousefi S, 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, Johnson S, Jones CA, Jones C, Jones A, Jones R, Kamesh L, Kanigicherla D, Frankl FK, Karim M, Kaur A, Kavanagh D, Kearley K, Kerecuk L, Khwaja A, King G, King G, Kislowska E, Klata E, Kokocinska M, Koziell A, Lambie M, Lawless L, Ledson T, Lennon R, Levine AP, Maggie Lai LW, 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, Moochhala S, Morgan P, Morgan A, Muhammad F, Murray S, Novobritskaya K, Ong ACM, 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, Pitcher D, Plumb L, Plummer Z, Popoola J, Post F, Power A, Pratt G, Pusey C, Pywell S, Rabara R, Rabuya M, Raju T, Javier C, Roberts ISD, Roufosse C, Rumjon A, Salama A, Saleem M, Sandford RN, Sandu KS, Sarween N, Sayer JA, Sebire N, Selvaskandan H, Shah S, Sharma A, Sharples EJ, Sheerin N, Shetty H, Shroff R, Simms R, Sinha M, Sinha S, Smith K, Smith L, Srivastava S, Steenkamp R, Stott I, Stroud K, Swallow D, 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, Walsh SB, Waters 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, Wong K, Wood G, Woodward E, Woodward L, Woolf A, Wright D, Wong EKS, Gale DP. . Kidney International 2025, 108(3), 455-469.
    • Geertsema P, Gansevoort RT, Arici M, Capasso G, Cornec-Le Gall E, Furlano M, Fuster DG, Galletti F, Gomez Dos Santos V, Perez Gomez MV, Goumenos D, Halbritter J, Jambon E, Korst U, Leliveld-Kors AM, Musquera M, Figueiredo A, Nijenhuis T, Olsburgh J, Pol RA, Sayer JA, Stippel D, Torra R, Muller R-U, Casteleijn NF, Alam A, Bammens B, Bartram MP, Birn H, Budde K, Cakiroglu F, Castro-Alonso C, Chebib FT, Dahl NK, De Almeida E, Demoulin N, Devuyst O, Eleftheriadis T, Fistrek Prlic M, Horie S, Idrizi A, Iyasere O, Janssens P, Jouret F, Luque Y, Mallett A, Mousseaux C, Mrug M, Perrone RD, Reiterova J, Robles NR, Rroji M, Rudnicki MA, Schmitt R, Scolari F, Tesar V, Topaloglu R, Trillini M, Weekers L, Zakrocka I, Spahia N, Kawano H, Muto S. . Nephrology Dialysis Transplantation 2025, 40(5), 1032-1054.
    • Abouzeina M, Mead P, Okpongete R, Mabillard H, Geraghty R, Sayer JA. . Journal of Rare Diseases 2025, 4, 53.
    • Al Alawi I, Al Awadi M, Al Awaid F, Pillai J, Sampson M, Arcila Galvis JE, Al Maimani A, Al Hashmi Z, Sayer JA. . F1000Research 2025, 14, 1212.
    • Tse Y, Vasey N, Thomas R, Leech S, Owens S, Sayer J. . Archives of Disease in Childhood: Education and Practice Edition 2025, 110(5), 228-231.
    • Deesker LJ, Oubram L, Almardini R, Baum MA, Bonilla-Felix M, Figueres L, Garrelfs SF, Groothoff JW, Ekulu PM, Muller R-U, Oosterveld MJS, Qian S, Sayer JA, Soliman N, Moochhala SH, Bacchetta J. . Nephrology Dialysis Transplantation 2025, 40(9), 1688-1697.
    • Wieers MLAJ, Allard L, D'Ambrosio V, Arango-Sancho P, de Baaij JHF, Becherucci F, Bertholet-Thomas A, Besouw M, Blanchard A, Cacciapuoti M, Carbone V, Cornelissen EA, Daffara F, Degenhardt J, Devuyst O, Dorresteijn E, Evans R, Figueres L, Fila M, Giliberti M, Gillion V, Haumann S, Hawkins - van der Cingel G, Houillier P, Hureaux M, Knauf F, Knebelmann B, Konrad M, Kwon T, Lemoine S, Longo G, Nijenhuis T, Engberink RHGO, Duro HR, Saadee C, Sayer JA, Schlingmann K-P, Simon T, Speeckaert MM, Tan HL, Trepiccione F, Vargas-Poussou R, Veligratti F, Walsh SB, Salih M, Imenez Silva PH, Hoorn EJ, Aunon P, Bockenhauer D, Conlon PJ, Erhardt C, Flammier S, Gomez CB, Guven S, Hawkins G, Halbritter J, Herthelius M, Herreros A, Klaric D, Ledo N, Marzuillo P, Schafer S, Schmitt R, Stanczyk M, Taroni F, Zagorec N. . Kidney International Reports 2025, 10(11), 3967-3983.
    • Halbritter J, Figueres L, Van Eerde AM, Capasso G, Hoorn EJ, Nijenhuis T, Perez-Gomez MV, Sayer JA, Simons M, Walsh S, Zagorec N, Muller R-U, Cornec-Le Gall E. . Nephrology Dialysis Transplantation 2025, 40(12), 2390-2400.
    • Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, Mcdonnell SK, Bublitz JT, Ma J, Audrezet M-P, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SG, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC. . Journal of the American Society of Nephrology 2025, 36(6), 1056-1071.
    • Claus LR, Snoek R, Faber S, Roskothen-Shevchuk AJC, Sendino Garvi E, Peters EDJ, Savelberg SMC, Duran K, van der Zwaag B, Nguyen TQ, Broekhuizen R, Brummelhuis WJ, Rookmaaker M, van der Veen SW, Elferink MG, Karras A, Raymond L, Mousseaux C, Sadeghi-Alavijeh O, Sayer JA, Olinger E, Neatu R, Klambt V, Stokman MF, Knoers NVAM, Tessadori F, Gale DP, Boldt K, Ueffing M, Slaats GG, Roepman R, Hildebrandt F, Mesnard L, van Haaften G, van Eerde AM. . Nephron 2025, Epub ahead of print.
    • Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F, Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. . Kidney International 2024, 105(2), 376-380.
    • Boeckhaus J, Gale DP, Simon J, Ding J, Zhang Y, Bergmann C, Turner AN, Hall M, Sayer JA, Srivastava S, Kang HG, Cerkauskaite-Kerpauskiene A, Gillion V, Claes KJ, Krueger B, de Fallois J, Walden U, Choi M, Schueler M, Mueller R-U, Todorova P, Hohenstein B, Zeisberg M, Friede T, Knebelmann B, Halbritter J, Gross O. . Kidney International Reports 2024, 9(12), 3490-3500.
    • Schonauer R, Sierks D, Boerrigter M, et al, Sayer JA. . Gastroenterology 2024, 166(5), 902-914.
    • Wopperer FJ, Olinger E, Wiesener A, Broeker KAE, Knaup KX, Schaefer JT, Galiano M, Schneider K, Schiffer M, Buttner-Herold M, Reis A, Schmieder R, Pasutto F, Hilgers KF, Poglitsch M, Ziegler C, Shoemaker R, Sayer JA, Wiesener MS. . Hypertension 2024, 81(9), 1857 - 1868.
    • Orr S, Olinger E, Iosifidou S, Barroso-Gil M, Neatu R, Wood K, Wilson I, Sayer JA. . Annals of Human Genetics 2024, 88(1), 76-85.
    • Van Den Berg G, Claus LR, Van Der Zwaag B, Lakeman P, Kaasenbrood L, Sayer JA, Lilien MR, Van Eerde AM. . Nephron 2024, 148(8), 569–577.
    • Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacka A, Piherova L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. . BMC Nephrology 2024, 25(1), 449.
    • 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. . The Lancet 2024, 403(10433), 1279-1289.
    • Esson G, Logan I, Wood K, Browning AC, Sayer JA. . Journal of Rare Diseases 2024, 3, 7.
    • Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, 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, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, 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 FJ-B, 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, 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 EA, 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 EL, 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, Frankl FK, 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, Maggie Lai LW, Lipkin G, Lovitt G, Lyons P, Mabillard H, Mackintosh K, Mahdi K, Maher E, Marchbank KJ, Mark PB, 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 IS, Roufosse C, Rumjon A, Salama A, Sandford RN, Sandu KS, Sarween N, Sebire N, Selvaskandan H, Shah S, 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, Tse Y, Turnbull A, 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. . Kidney International Reports 2024, 9(7), 2067-2083.
    • Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R, Genomics England Research Consortium, Atan D, Sayer JA. . Genetics in Medicine Open 2024, 2, 101834.
    • Gale DP, Gross O, Wang F, Esteban de la Rosa RJ, Hall M, Sayer JA, Appel G, Hariri A, Liu S, Maski M, Shen Y, Zhang Q, Iqbal S, Kowthalam MU, Lin J, Ding J. . Clinical Journal of the American Society of Nephrology 2024, 19(8), 995-1004.
    • Strauss-Kruger M, Olinger E, Hofmann P, Wilson IJ, Mels C, Kruger R, Gafane-Matemane LF, Sayer JA, Ricci C, Schutte AE, Devuyst O. . Kidney International Reports 2024, 9(12), 3477-3489.
    • Almohlesy LS, Imtiaz F, Tulbah M, Alhashem A, Alhajooj M, Alhashem A, Mabillard H, Sayer JA, Alharbi KK, Al-Hamed MH. . Genes 2024, 15(11), 1374.
    • 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. . 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. . 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. . American Journal of Human Genetics 2023, 110(6), 998-1007.
    • Kamali F, Jamee M, Sayer JA, Sadeghi-Bojd S, Golchehre Z, Dehghanzad R, Keramatipour M, Mohkam M. . CEN Case Reports 2023, 12(4), 413-418.
    • Mabillard H, Sayer JA, Olinger E. . 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. . Kidney International 2023, 104(5), 995-1007.
    • 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. . Genetics in Medicine 2023, 25(3), 100351.
    • Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. . 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. . American Journal of Human Genetics 2022, 109(5), 928-943.
    • Er C, Dyson J, Jones D, Sayer J. . BMJ Case Reports 2022, 15(8), e248461.
    • 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . The BMJ 2021, 375, e066288.
    • Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA. . 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. . 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. . Human Genetics 2021, 141, 101-126.
    • Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F. . 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. . 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. . 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. . 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. . 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. . Human Mutation 2021, 42(10), 1221-1228.
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    • Elston MS, Du Toit S, Alkanderi S, Sayer JA, Conaglen JV, Tamatea JAU. . SN Comprehensive Clinical Medicine 2020, 2, 995-1002.
    • Molinari E, Srivastava S, Dewhurst RM, Sayer JA. . BMC Nephrology 2020, 21(1), 435.
    • Mabillard H, Sayer JA. . 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. . 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. . Genes 2020, 11(9), 967.
    • Powell L, Barroso-Gil M, Clowry GJ, Devlin LA, Molinari E, Ramsbottom SA, Miles CG, Sayer JA. . 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. . 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. . Kidney International Reports 2020, 5(10), 1823-1827.
    • Molinari E, Sayer JA. . 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. . 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. . Kidney International 2020, 98(3), 717-731.
    • Al Alawi I, Molinari E, Al Salmi I, Al Rahbi F, Al Mawali A, Sayer JA. . BMC Nephrology 2020, 21(1), 347.
    • Sayer JA, Mabillard H, Tedd H, Speight A, Duncan C, Price DA. . F1000Research 2020, 9, 659.
    • Geraghty R, Wood K, Sayer JA. . 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. . 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. . 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. . 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. . 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. . 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. . Urolithiasis 2019, 47, 511-519.
    • Willows J, Al Badi M, Richardson C, Al Sinani A, Edwards N, Rice SJ, Sayer JA. . 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. . 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. . Kidney International 2018, 93(1), 204-213.
    • Sayer JA, McCloskey S, Brennan P. . F1000Research 2018, 7, 356.
    • Molinari E, Ramsbottom SA, Sammut V, Hughes FEP, Sayer JA. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . PLoS Genetics 2017, 13(3), e1006620.
    • Mabillard H, Srivastava S, Haslam P, Karasek M, Sayer JA. . Case Reports in Nephrology 2017, 2017, 4653267.
    • Al Alawi I, Al Salmi I, Al Mawali A, Sayer JA. . 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. . Scientific Reports 2017, 7, 14595.
    • Molinari E, Srivastava S, Sayer JA, Ramsbottom SA. . F1000 Research 2017, 6, 669.
    • Al Alawi I, Al Salmi I, Al Mawali A, Al Maimani Y, Sayer JA. . International Journal of Nephrology 2017, 2017, 6403985.
    • Sayer JA, Iqbal Z. . F1000Research 2017, 6, 470.
    • Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA. . 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. . 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. . Kidney International 2016, 89(2), 468-475.
    • Al-Hamed MH, Kurdi W, Alsahan N, Ambosaidi Q, Tulbah M, Sayer JA. . 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. . 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. . 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. . Clinical Genetics 2016, 89(2), 187-192.
    • Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA. . 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. . 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. . BMC Medical Genetics 2015, 16, 35.
    • Ramsbottom S, Miles C, Sayer J. . 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. . 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. . 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. . 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 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. . 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. . 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. . 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. . 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. . Human Molecular Genetics 2012, 21(6), 1272-1286.
    • Simms RJ, Hynes AM, Eley L, Inglis D, Chaudhry B, Dawe HR, Sayer JA. . 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. . PLoS One 2011, 6(12), e28641.
    • Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MTF. . 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. . Human Molecular Genetics 2010, 19(10), 1985-1997.
    • Shawcross J, Sayer J. . 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. . Journal of Clinical Investigation 2010, 120(3), 791-802.
    • Carr G, Moochhala SH, Eley L, Vandewalle A, Simmons NL, Sayer JA. . 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. . Clinical Genetics 2009, 76(4), 413-416.
    • Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. . 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. . 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. . Kidney International 2007, 72(12), 1520-1526.
    • Carr G, Sayer JA, Simmons NL. . 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. . Human Molecular Genetics 2006, 15(11), 1847-1857.
    • Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. . Pediatric Nephrology 2006, 21(1), 32-35.
    • Moore I, Sayer JA, Nayar A, Ahmed S, Tapson JS. . Journal of Nephrology 2004, 17(4), 580-581.
    • Moore I, Ahmed S, Sayer JA, Ward MK. . Nephrology Dialysis Transplantation 2004, 19(6), 1656-1657.
    • Sayer JA, Carr G, Simmons NL. . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2004, 1689(1), 83-90.
    • Sayer JA, Carr G, Pearce SHS, Goodship THJ, Simmons NL. . Biochemical and Biophysical Research Communications 2003, 300(2), 305-310.
    • Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA. . Human Molecular Genetics 2002, 11(26), 3345-3350.
    • Sayer JA, Stewart GS, Boese SH, Gray MA, Pearce SHS, Goodship THJ, Simmons NL. . Journal of Physiology 2001, 536(3), 769-783.

  • Book Chapters

    • Devlin LA, Dewhurst RM, Sudhindar PD, Sayer JA. . In: Current Topics in Developmental Biology. Academic Press Inc, 2025, pp.229-305.
    • Sayer J, Raman S, Srivastava S. . 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. . 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. . In: Experimental Biology 2015. 2015, Boston, USA: Federation of American Societies for Experimental Biology.
    • Srivastava S, Hynes AM, Miles C, Giles RH, Sayer JA. . In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
    • Montgomery EK, Sayer JA. . In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
    • Kelly MJ, Beck BB, Wolf M, Sayer JA. . 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. . In: 52nd ERA-EDTA Congress. 2015, London, UK: Oxford University Press.
    • Sayer JA, Carr G, Moochhala SH, Simmons NL. . In: Renal Stone Disease: No. 2: 2nd International Urolithiasis Research Symposium. 2008, Indianapolis, IN: American Institute of Physics.
    • Sayer J, Hogg P. . In: XLIV Congress of the European Renal Association European Dialysis and Transplant Association (ERA-EDTA). 2007, Barcelona, Spain: OXFORD UNIV PRESS.

  • Editorials

    • Sayer JA, Mallett AJ, Soliman NA. . Journal of Rare Diseases 2026, 5, 19.
    • Soliman NA, Sayer JA. . Journal of Rare Diseases 2025, 4, 6.
    • Sayer JA, Omran H, Zietkiewicz E. . Frontiers in Molecular Biosciences 2025, 12, 1753098.
    • Sayer JA, Pillai J. . American Journal of Kidney Diseases 2025, 86(6), 719-720.
    • Iqbal Z, Sayer JA. . QJM: an international journal of medicine 2016, 109(8), 563-564.
    • Sayer JA. . European Urology 2015, 68(1), 164-165.
    • Brady M, Montgomery E, Brennan P, Mohindra R, Sayer JA. . QJM 2015, 108(7), 585-590.
    • Sayer JA, Simms RJ. . Kidney International 2014, 85(4), 748-749.

  • Letters

    • Al-Hamed MH, Alzaidan H, Hussein M, Albaik L, Qari A, Sayer JA, Imtiaz F. . Clinical Kidney Journal 2021, 14(2), 728-730.
    • Geraghty RM, Wilson I, Sayer JA. . Kidney International 2020, 98(5), 1347-1347.
    • Barroso-Gil M, Powell L, Sayer JA. . Pediatric Neurology 2020, 112, 10-10.
    • Willows J, Sayer JA. . Clinical Medicine, Journal of the Royal College of Physicians of London 2019, 19(1), 92-93.
    • Hill FJ, Sayer JA. . QJM 2018, 111(5), 353-354.
    • Hill FJ, Sayer JA. . QJM 2017, 110(4), 261-261.
    • Sayer JA, Haslam P, Brennan P. . 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. . 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. . 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. . Nature Genetics 2005, 37(3), 282-288.

  • Notes

    • Sayer JA. . European Urology 2023, 84(5), 511-511.
    • Olinger E, Wilson I, Devuyst O, Sayer JA. . Kidney International 2022, 101(5), 863-866.
    • Geraghty R, Olinger E, Sayer JA. . Kidney International 2021, 99(6), 1255-1259.

  • Reviews

    • Chang AR, Wongboonsin J, Mallett AJ, Morales A, Retterer K, Mirshahi T, Sayer JA. . Seminars in Nephrology 2025, 45(5), 151651.
    • Bachmann-Gagescu R, Sayer JA. . Journal of Cell Science 2025, 138(20), jcs264177.
    • Boeckhaus J, Mabillard H, Sayer JA. . Journal of Rare Diseases 2025, 4, 5.
    • Gall EC-L, van Eerde AM, Figueres L, Simons M, Capasso G, Gomez MVP, Nijenhuis T, Sayer JA, Zagorec N, Muller R-U, Halbritter J. . Clinical Kidney Journal 2025, 18(9), sfaf253.
    • Geraghty R, Lovegrove C, Howles S, Sayer JA. . Current Urology Reports 2024, 25, 311-323.
    • Mabillard H, Ryan R, Tzoumas N, Gear S, Sayer JA. . Journal of Rare Diseases 2024, 3, 14.
    • Pournasiri Z, Madani A, Nazarpack F, Sayer JA, Chavoshzadeh Z, Nili F, Tran P, Saba JD, Jamee M. . World Journal of Pediatrics 2023, 19, 425-437.
    • Dewhurst RM, Molinari E, Sayer JA. . Microfluidics and Nanofluidics 2023, 27(3), 21.
    • Devlin L, Dhondurao Sudhindar P, Sayer JA. . Expert Opinion on Therapeutic Targets 2023, 27(4-5), 325-346.
    • Esson GA, Hussain AB, Meggitt SJ, Reynolds NJ, Sayer JA. . Clinical Kidney Journal 2022, 15(5), 855-864.
    • Barroso-Gil M, Olinger E, Sayer JA. . Biochemical Society Transactions 2021, 49(3), 1205-1220.
    • Dewhurst RM, Molinari E, Sayer JA. . Molecular and Cellular Probes 2021, 56, 101694.
    • Powell L, Samarakoon YH, Ismail S, Sayer JA. . 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. . American Journal of Medical Genetics, Part A 2020, 182(1), 229-249.
    • Mabillard H, Sayer JA. . F1000Research 2020, 9, 587.
    • Devlin LA, Sayer JA. . Current Opinion in Genetics and Development 2019, 56, 49-60.
    • Hill F, Sayer JA. . Urolithiasis 2019, 47(1), 99-105.
    • Srivastava S, Molinari E, Raman S, Sayer JA. . Frontiers in Pediatrics 2018, 5, 287.
    • Sayer JA. . Journal of the American Society of Nephrology : JASN 2017, 28(3), 748-759.
    • Molinari E, Sayer JA. . Expert Opinion on Orphan Drugs 2017, 5(10), 785-798.
    • Sayer J. . Nephron - Physiology 2011, 118(1), 35-44.