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Number of items: 158.

Article

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all 100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J; Chan, G; Williams, HJ; Ratnaike, T; Wei, W; Stirrups, K; Ibanez, K; Moutsianas, L; Wielscher, M; Need, A; Barnes, MR; Vestito, L; Buchanan, J; Wordsworth, S; Ashford, S; Rehmström, K; Li, E; Fuller, G; Twiss, P; Spasic-Boskovic, O; Halsall, S; Floto, RA; Poole, K; Wagner, A; Mehta, SG; Gurnell, M; Burrows, N; James, R; Penkett, C; Dewhurst, E; Gräf, S; Mapeta, R; Kasanicki, M; Haworth, A; Savage, H; Babcock, M; Reese, MG; Bale, M; Baple, E; Boustred, C; Brittain, H; de Burca, A; Bleda, M; Devereau, A; Halai, D; Haraldsdottir, E; Hyder, Z; Kasperaviciute, D; Patch, C; Polychronopoulos, D; Matchan, A; Sultana, R; Ryten, M; Tavares, ALT; Tregidgo, C; Turnbull, C; Welland, M; Wood, S; Snow, C; Williams, E; Leigh, S; Foulger, RE; Daugherty, LC; Niblock, O; Leong, IUS; Wright, CF; Davies, J; Crichton, C; Welch, J; Woods, K; Abulhoul, L; Aurora, P; Bockenhauer, D; Broomfield, A; Cleary, MA; Lam, T; Dattani, M; Footitt, E; Ganesan, V; Grunewald, S; Compeyrot-Lacassagne, S; Muntoni, F; Pilkington, C; Quinlivan, R; Thapar, N; Wallis, C; Wedderburn, LR; Worth, A; Bueser, T; Compton, C; Deshpande, C; Fassihi, H; Haque, E; Izatt, L; Josifova, D; Mohammed, S; Robert, L; Rose, S; Ruddy, D; Sarkany, R; Say, G; Shaw, AC; Wolejko, A; Habib, B; Burns, G; Hunter, S; Grocock, RJ; Humphray, SJ; Robinson, PN; Haendel, M; Simpson, MA; Banka, S; Clayton-Smith, J; Douzgou, S; Hall, G; Thomas, HB; O'Keefe, RT; Michaelides, M; Moore, AT; Malka, S; Pontikos, N; Browning, AC; Straub, V; Gorman, GS; Horvath, R; Quinton, R; Schaefer, AM; Yu-Wai-Man, P; Turnbull, DM; McFarland, R; Taylor, RW; O'Connor, E; Yip, J; Newland, K; Morris, HR; Polke, J; Wood, NW; Campbell, C; Camps, C; Gibson, K; Koelling, N; Lester, T; Németh, AH; Palles, C; Patel, S; Roy, NBA; Sen, A; Taylor, J; Cacheiro, P; Jacobsen, JO; Seaby, EG; Davison, V; Chitty, L; Douglas, A; Naresh, K; McMullan, D; Ellard, S; Temple, IK; Mumford, AD; Wilson, G; Beales, P; Bitner-Glindzicz, M; Black, G; Bradley, JR; Brennan, P; Burn, J; Chinnery, PF; Elliott, P; Flinter, F; Houlden, H; Irving, M; Newman, W; Rahman, S; Sayer, JA; Taylor, JC; Webster, AR; Wilkie, AOM; Ouwehand, WH; Raymond, FL; Chisholm, J; Hill, S; Bentley, D; Scott, RH; Fowler, T; Rendon, A; Caulfield, M; - view fewer (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790.

Abdelhadi, O; Iancu, D; Stanescu, H; Kleta, R; Bockenhauer, D; (2016) EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Diseases , 4 (1) , Article e1195043. 10.1080/21675511.2016.1195043.

Abdelhadi, O; Iancu, D; Tekman, M; Stanescu, H; Bockenhauer, D; Kleta, R; (2016) Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Molecular Genetics & Genomic Medicine , 4 (5) pp. 521-526. 10.1002/mgg3.227.

Adalat, S; Hayes, WN; Bryant, WA; Booth, J; Woolf, AS; Kleta, R; Subtil, S; ... Bockenhauer, D; + view all Adalat, S; Hayes, WN; Bryant, WA; Booth, J; Woolf, AS; Kleta, R; Subtil, S; Clissold, R; Colclough, K; Ellard, S; Bockenhauer, D; - view fewer (2019) HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney International Reports , 4 (9) pp. 1304-1311. 10.1016/j.ekir.2019.05.019.

Afentou, Nafsika; Frew, Emma; Mehta, Samir; Ives, Natalie J; Woolley, Rebecca L; Brettell, Elizabeth A; Khan, Adam R; ... PREDNOS Collaborative Group, NIHR Medicines for Children Researc; + view all Afentou, Nafsika; Frew, Emma; Mehta, Samir; Ives, Natalie J; Woolley, Rebecca L; Brettell, Elizabeth A; Khan, Adam R; Milford, David V; Bockenhauer, Detlef; Saleem, Moin A; Hall, Angela S; Koziell, Ania; Maxwell, Heather; Hegde, Shivaram; Finlay, Eric; Gilbert, Rodney D; Jones, Caroline; McKeever, Karl; Cook, Wendy; Webb, Nicholas JA; Christian, Martin T; PREDNOS Collaborative Group, NIHR Medicines for Children Researc; - view fewer (2022) Economic Evaluation of Using Daily Prednisolone versus Placebo at the Time of an Upper Respiratory Tract Infection for the Management of Children with Steroid-Sensitive Nephrotic Syndrome: A Model-Based Analysis. PharmacoEconomics - Open 10.1007/s41669-022-00334-6. (In press).

Arslan, Z; Watson, E; Bockenhauer, D; (2023) Ascertaining pathogenicity of genetic variants: caution required. Pediatric Nephrology , 38 pp. 1695-1696. 10.1007/s00467-023-05909-x.

Arslan, Z; Webb, H; Ashton, E; Foxler, B; Tullus, K; Waters, A; Bockenhauer, D; (2023) Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported? Pediatric Nephrology , 38 pp. 1051-1056. 10.1007/s00467-022-05569-3.

Ashton, E; Bockenhauer, D; (2020) Diagnosis of uncertain significance: can next generation sequencing replace the clinician? Kidney International , 97 (3) pp. 455-457. 10.1016/j.kint.2019.12.012.

Ashton, E; Legrand, A; Benoit, V; Roncelin, I; Venisse, A; Zennaro, MC; Jeunemaitre, X; ... Bockenhauer, D; + view all Ashton, E; Legrand, A; Benoit, V; Roncelin, I; Venisse, A; Zennaro, MC; Jeunemaitre, X; Iancu, D; van't Hoff, W; Walsh, SB; Godefroid, N; Rotthier, A; Del Favero, J; Devuyst, O; Schaefer, F; Jenkins, L; Kleta, R; Dahan, K; Vargas-Poussou, R; Bockenhauer, D; - view fewer (2018) Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney International , 93 (4) pp. 961-967. 10.1016/j.kint.2017.10.016.

Aymé, S; Bockenhauer, D; Day, S; (2017) Aymé S, Bockenhauer D, Day S, et al. Common Elements in Rare Kidney Diseases: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017;92:796–808. [Corrigendum]. Kidney International , 92 (6) p. 1558. 10.1016/j.kint.2017.10.004.

Balogh, E; Chandler, J; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; ... Tory, K; + view all Balogh, E; Chandler, J; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; Hamar, R; Légrádi, R; Szekeres, Á; Gribouval, O; Kleta, R; Stanescu, H; Bockenhauer, D; Kerti, A; Williams, H; Kinsler, V; Di, W-L; Curtis, D; Kolatsi-Joannou, M; Hammid, H; Szőcs, A; Perczel, K; Maka, E; Toldi, G; Sava, F; Arrondel, C; Kardos, M; Fintha, A; Hossain, A; D’Arco, F; Kaliakatsos, M; Koeglmeier, J; Mifsud, W; Moosajee, M; Faro, A; Jávorszky, E; Rudas, G; Saied, MH; Marzouk, S; Kelen, K; Götze, J; Reusz, G; Tulassay, T; Dragon, F; Mollet, G; Motameny, S; Thiele, H; Dorval, G; Nürnberg, P; Perczel, A; Szabó, AJ; Long, DA; Tomita, K; Antignac, C; Waters, AM; Tory, K; - view fewer (2020) Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America , 117 (26) pp. 15137-15147. 10.1073/pnas.2002328117.

Bassanese, G; Wlodkowski, T; Servais, A; Heidet, L; Roccatello, D; Emma, F; Levtchenko, E; ... Schaefer, F; + view all Bassanese, G; Wlodkowski, T; Servais, A; Heidet, L; Roccatello, D; Emma, F; Levtchenko, E; Ariceta, G; Bacchetta, J; Capasso, G; Jankauskiene, A; Miglinas, M; Ferraro, PM; Montini, G; Oh, J; Decramer, S; Levart, TK; Wetzels, J; Cornelissen, E; Devuyst, O; Zurowska, A; Pape, L; Buescher, A; Haffner, D; Marcun Varda, N; Ghiggeri, GM; Remuzzi, G; Konrad, M; Longo, G; Bockenhauer, D; Awan, A; Andersone, I; Groothoff, JW; Schaefer, F; - view fewer (2021) The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results. Orphanet Journal of Rare Diseases , 16 (1) , Article 251. 10.1186/s13023-021-01872-8.

Bertulli, C; Hureaux, M; De Mutiis, C; Pasini, A; Bockenhauer, D; Vargas-Poussou, R; La Scola, C; (2020) A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis. Children , 7 (11) , Article 212. 10.3390/children7110212.

Besouw, MTP; Bienias, M; Walsh, P; Kleta, R; van't Hoff, WG; Ashton, E; Jenkins, L; Besouw, MTP; Bienias, M; Walsh, P; Kleta, R; van't Hoff, WG; Ashton, E; Jenkins, L; Bockenhauer, D; - view fewer (2017) Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children. [Corrigendum]. Pediatric Nephrology , 32 (6) p. 1095. 10.1007/s00467-017-3631-6.

Besouw, MTP; Kleta, R; Bockenhauer, D; (2019) Bartter and Gitelman syndromes: questions of class. Pediatric Nephrology 10.1007/s00467-019-04371-y. (In press).

Bianic, F; Guelfucci, F; Robin, L; Martre, C; Game, D; Bockenhauer, D; (2021) Epidemiology of Distal Renal Tubular Acidosis: A Study Using Linked UK Primary Care and Hospital Data. Nephron , 145 pp. 486-495. 10.1159/000516876.

Bichet, Daniel G; Bockenhauer, Detlef; (2024) Thirst, Hunger, and Nephrogenic Diabetes Insipidus. New England Journal of Medicine , 390 (20) pp. 1922-1924. 10.1056/NEJMcibr2400066.

Bichet, DG; Granier, S; Bockenhauer, D; (2019) GNAS: a new nephrogenic cause of inappropriate antidiuresis. [Editorial comment]. Journal of the American Society of Nephrology , 30 (5) pp. 722-725. 10.1681/ASN.2019020143.

Biebermann, H; Kleinau, G; Schnabel, D; Bockenhauer, D; Wilson, LC; Tully, I; Kiff, S; ... Grüters, A; + view all Biebermann, H; Kleinau, G; Schnabel, D; Bockenhauer, D; Wilson, LC; Tully, I; Kiff, S; Scheerer, P; Reyes, M; Paisdzior, S; Gregory, JW; Allgrove, J; Krude, H; Mannstadt, M; Gardella, TJ; Dattani, M; Jüppner, H; Grüters, A; - view fewer (2019) A new multi-system disorder caused by the Gαs mutation p.F376V. The Journal of Clinical Endocrinology & Metabolism , 104 (4) pp. 1079-1089. 10.1210/jc.2018-01250.

Blanchard, A; Bockenhauer, D; Bolignano, D; Calò, LA; Cosyns, E; Devuyst, O; Ellison, DH; ... Vargas-Poussou, R; + view all Blanchard, A; Bockenhauer, D; Bolignano, D; Calò, LA; Cosyns, E; Devuyst, O; Ellison, DH; Karet Frankl, FE; Knoers, NV; Konrad, M; Lin, SH; Vargas-Poussou, R; - view fewer (2017) Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International , 91 (1) pp. 24-33. 10.1016/j.kint.2016.09.046.

Bockenhauer, D; Mushtaq, I; Faravelli, F; (2022) Absent abdominal musculature in a girl. Kidney International , 101 (4) p. 833. 10.1016/j.kint.2021.10.016.

Bockenhauer, Detlef; Bichet, Daniel G; (2022) Genetic Testing and FOX News. American Journal of Nephrology , 53 (4) pp. 249-252. 10.1159/000522227.

Bockenhauer, Detlef; Boyer, Olivia; (2024) Less or later: Treatment dilemmas in congenital nephrotic syndrome. Acta Paediatrica: Nurturing the Child , 113 (8) pp. 1746-1747. 10.1111/apa.17310.

Bockenhauer, Detlef; Knoers, Nine VAM; Bichet, Daniel G; (2023) What's in a name? That which we call diabetes does not taste sweet! Pediatric Nephrology , 38 pp. 937-939. 10.1007/s00467-022-05815-8.

Bockenhauer, Detlef; Sadeghi-Alavijeh, Omid; Gale, Daniel P; (2025) Phosphate transporters and avoiding the prosecutor’s fallacy. Kidney International , 107 (4) p. 757. 10.1016/j.kint.2025.01.001.

Bockenhauer, Detlef; Stanescu, Horia; (2025) Distal renal tubular acidosis and WDR72: some answers, more questions. Pediatric Nephrology , 40 (2) pp. 297-300. 10.1007/s00467-024-06504-4.

Bockenhauer, D; (2017) Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics? Pediatric Nephrology , 32 (5) pp. 721-723. 10.1007/s00467-017-3578-7.

Bockenhauer, D; Besouw, M; Bienias, M; Walsh, P; Kleta, R; Van't Hoff, WG; Jenkins, L; Bockenhauer, D; Besouw, M; Bienias, M; Walsh, P; Kleta, R; Van't Hoff, WG; Jenkins, L; Ashton, E; - view fewer (2017) Clinical and molecular aspects of distal renal tubular acidosis in children. Pediatric Nephrology , 32 (6) pp. 987-996. 10.1007/s00467-016-3573-4.

Bockenhauer, D; Bichet, DG; (2017) Nephrogenic diabetes insipidus. Current Opinion in Pediatrics , 29 (2) pp. 199-205. 10.1097/MOP.0000000000000473.

Bockenhauer, D; Bichet, DG; (2015) Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nature Reviews Nephrology , 11 (10) pp. 576-588. 10.1038/nrneph.2015.89.

Bockenhauer, D; Bichet, DG; (2014) Urinary concentration: different ways to open and close the tap. Pediatric Nephrology , 29 (8) 1297 - 1303. 10.1007/s00467-013-2526-4.

Bockenhauer, D; Hayes, W; Boyle, S; Carroll, A; Marks, S; (2017) Hypomagnesemia and increased risk of new-onset diabetes mellitus after transplantation in pediatric renal transplant recipients. Paediatric Nephrology , 32 (5) pp. 879-884. 10.1007/s00467-016-3571-6.

Bockenhauer, D; Jaureguiberry, G; (2016) HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatric Nephrology , 31 pp. 707-714. 10.1007/s00467-015-3142-2.

Bockenhauer, D; Kleta, R; (2021) Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling. Pediatric Nephrology 10.1007/s00467-021-05098-5. (In press).

Bockenhauer, D; Kleta, R; (2018) Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial? Journal of the American Society of Nephrology , 29 (3) pp. 727-739. 10.1681/ASN.2017060600.

Bockenhauer, D; Kleta, R; (2017) Of dogs and men. European Journal of Human Genetics , 25 (2) p. 161. 10.1038/ejhg.2016.161.

Bockenhauer, D; Zieg, J; (2014) Electrolyte disorders. Clinics in Perinatology , 41 (3) pp. 575-590. 10.1016/j.clp.2014.05.007.

Boyer, O; Schaefer, F; Haffner, D; Bockenhauer, D; Holtta, T; Berody, S; Webb, H; ... Vivarelli, M; + view all Boyer, O; Schaefer, F; Haffner, D; Bockenhauer, D; Holtta, T; Berody, S; Webb, H; Heselden, M; Lipska-Zietkiewicz, BS; Ozaltin, F; Levtchenko, E; Vivarelli, M; - view fewer (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group. Nature Reviews Nephrology , 17 pp. 277-289. 10.1038/s41581-020-00384-1.

Burballa, Carla; Cantero-Recasens, Gerard; Prikhodina, Larisa; Lugani, Francesca; Schlingmann, Karlpeter; Ananin, Petr V; Besouw, Martine; ... DENT study group; + view all Burballa, Carla; Cantero-Recasens, Gerard; Prikhodina, Larisa; Lugani, Francesca; Schlingmann, Karlpeter; Ananin, Petr V; Besouw, Martine; Bockenhauer, Detlef; Madariaga, Leire; Bertholet-Thomas, Aurelia; Taroni, Francesca; Parolin, Mattia; Conlon, Peter; Delprete, Dorella; Chauveau, Dominique; Koster-Kamphuis, Linda; Fila, Marc; Pasini, Andrea; Castro, Isabel; Colussi, Giacomo; Gil, Marta; Mohidin, Barian; Wlodkowski, Tanja; Schaefer, Franz; Ariceta, Gema; DENT study group; - view fewer (2023) Clinical and genetic characteristics of Dent's Disease type 1 in Europe. Nephrology Dialysis Transplantation , 38 (6) pp. 1497-1507. 10.1093/ndt/gfac310.

Cabezas, OR; Flanagan, S; Stanescu, H; Garcia-Martinez, E; Caswell, R; Lango-Allen, H; Anton-Gamero, M; ... Bockenhauer, D; + view all Cabezas, OR; Flanagan, S; Stanescu, H; Garcia-Martinez, E; Caswell, R; Lango-Allen, H; Anton-Gamero, M; Argente, J; Bussell, AM; Brandli, A; Cheshire, C; Crowne, E; Dumitriu, S; Drynda, R; Hamilton-Shield, J; Hayes, W; Hofherr, A; Iancu, D; Issler, N; Jefferies, C; Jones, P; Johnson, M; Kesselheim, A; Klootwijk, E; Koettgen, M; Lewis, W; Martos, JM; Mozere, M; Norman, J; Patel, V; Parrish, A; Perez-Cerda, C; Pozo, J; Rahman, SA; Sebire, N; Tekman, M; Turnpenny, P; van't Hoff, W; Viering, D; Weedon, M; Wilson, P; Guay-Woodford, L; Kleta, R; Hussain, K; Ellard, S; Bockenhauer, D; - view fewer (2017) Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2. Journal of the American Society of Nephrology , 28 (8) pp. 2529-2539. 10.1681/ASN.2016121312.

Caubit, X; Gubellini, P; Andrieux, J; Roubertoux, PL; Metwaly, M; Jacq, B; Fatmi, A; ... Fasano, L; + view all Caubit, X; Gubellini, P; Andrieux, J; Roubertoux, PL; Metwaly, M; Jacq, B; Fatmi, A; Had-Aissouni, L; Kwan, KY; Salin, P; Carlier, M; Liedén, A; Rudd, E; Shinawi, M; Vincent-Delorme, C; Cuisset, JM; Lemaitre, MP; Abderrehamane, F; Duban, B; Lemaitre, JF; Woolf, AS; Bockenhauer, D; Severac, D; Dubois, E; Zhu, Y; Sestan, N; Garratt, AN; Kerkerian-Le Goff, L; Fasano, L; - view fewer (2016) TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nature Genetics , 48 (11) pp. 1359-1369. 10.1038/ng.3681.

Chan, Melanie Mai Yee; Sadeghi-Alavijeh, Omid; Lopes, Filipa M; Hilger, Alina C; Stanescu, Horia C; Voinescu, Catalin D; Beaman, Glenda M; ... Gale, Daniel P; + view all Chan, Melanie Mai Yee; Sadeghi-Alavijeh, Omid; Lopes, Filipa M; Hilger, Alina C; Stanescu, Horia C; Voinescu, Catalin D; Beaman, Glenda M; Newman, William G; Zaniew, Marcin; Weber, Stefanie; Ho, Yee Mang; Connolly, John O; Wood, Dan; Maj, Carlo; Stuckey, Alexander; Kousathanas, Athanasios; Genomics England Research Consortium; Kleta, Robert; Woolf, Adrian S; Bockenhauer, Detlef; Levine, Adam P; Gale, Daniel P; - view fewer (2022) Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves. eLife , 11 , Article e74777. 10.7554/eLife.74777.

Chong, LSH; Sautenet, B; Tong, A; Hanson, CS; Samuel, S; Zappitelli, M; Dart, A; ... Craig, JC; + view all Chong, LSH; Sautenet, B; Tong, A; Hanson, CS; Samuel, S; Zappitelli, M; Dart, A; Furth, S; Eddy, AA; Groothoff, J; Webb, NJA; Yap, H-K; Bockenhauer, D; Sinha, A; Alexander, SI; Goldstein, SL; Gipson, DS; Raman, G; Craig, JC; - view fewer (2017) Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease. The Journal of Pediatrics , 186 110-117.e11. 10.1016/j.jpeds.2017.03.034.

Christian, Martin T; Webb, Nicholas Ja; Woolley, Rebecca L; Afentou, Nafsika; Mehta, Samir; Frew, Emma; Brettell, Elizabeth A; ... Ives, Natalie; + view all Christian, Martin T; Webb, Nicholas Ja; Woolley, Rebecca L; Afentou, Nafsika; Mehta, Samir; Frew, Emma; Brettell, Elizabeth A; Khan, Adam R; Milford, David V; Bockenhauer, Detlef; Saleem, Moin A; Hall, Angela S; Koziell, Ania; Maxwell, Heather; Hegde, Shivaram; Finlay, Eric R; Gilbert, Rodney D; Jones, Caroline; McKeever, Karl; Cook, Wendy; Ives, Natalie; - view fewer (2022) Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT. Health Technology Assessment , 26 (3) pp. 1-94. 10.3310/WTFC5658.

Christian, MT; Webb, NJA; Mehta, S; Woolley, RL; Afentou, N; Frew, E; Brettell, EA; ... Ives, N; + view all Christian, MT; Webb, NJA; Mehta, S; Woolley, RL; Afentou, N; Frew, E; Brettell, EA; Khan, AR; Milford, DV; Bockenhauer, D; Saleem, MA; Hall, AS; Koziell, A; Maxwell, H; Hegde, S; Prajapati, H; Gilbert, RD; Jones, C; McKeever, K; Cook, W; Ives, N; - view fewer (2021) Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial. JAMA Pediatrics 10.1001/jamapediatrics.2021.5189. (In press).

Chromek, M; Jungner, Å; Rudolfson, N; Ley, D; Bockenhauer, D; Hagander, L; (2020) Hyponatraemia despite isotonic maintenance fluid therapy: a time series intervention study. Archives of Disease in Childhood 10.1136/archdischild-2019-318555. (In press).

Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JOB; Arno, G; Behr, ER; Benson, KA; ... Smedley, D; + view all 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; García-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; - view fewer (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature 10.1038/s41586-025-08623-w. (In press).

Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; ... Bockenhauer, D; + view all Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; Differ, AM; Lench, N; Varadkar, S; Sirimanna, T; Wassmer, E; Hulton, SA; Ognjanovic, M; Ramesh, V; Feather, S; Kleta, R; Hammers, A; Bockenhauer, D; - view fewer (2013) Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol , 55 (9) 846 - 856. 10.1111/dmcn.12171.

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Hayes, W; Boyle, S; Carroll, A; Bockenhauer, D; Marks, SD; (2017) Erratum to: Hypomagnesemia and increased risk of new-onset diabetes mellitus after transplantation in pediatric renal transplant recipients. Pediatric Nephrology , 32 (5) p. 903. 10.1007/s00467-017-3609-4.

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Kasperavičiute, D; Catarino, CB; Chinthapalli, K; Clayton, LMS; Thom, M; Martinian, L; Cohen, H; ... Sisodiya, SM; + view all Kasperavičiute, D; Catarino, CB; Chinthapalli, K; Clayton, LMS; Thom, M; Martinian, L; Cohen, H; Adalat, S; Bockenhauer, D; Pope, SA; Lench, N; Koltzenburg, M; Duncan, JS; Hammond, P; Hennekam, RCM; Land, JM; Sisodiya, SM; - view fewer (2011) Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions. PLoS ONE , 6 (8) , Article e23182. 10.1371/journal.pone.0023182.

KDIGO Conference Participants; (2022) Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International , 101 (6) pp. 1126-1141. 10.1016/j.kint.2022.03.019.

Kerklaan, Jasmijn; Hanson, Camilla S; Carter, Simon; Tong, Allison; Sinha, Aditi; Dart, Allison; Eddy, Allison A; ... Craig, Jonathan C; + view all Kerklaan, Jasmijn; Hanson, Camilla S; Carter, Simon; Tong, Allison; Sinha, Aditi; Dart, Allison; Eddy, Allison A; Guha, Chandana; Gipson, Debbie S; Bockenhauer, Detlef; Hannan, Elyssa; Yap, Hui-Kim; Groothoff, Jaap; Zappitelli, Michael; Amir, Noa; Alexander, Stephen I; Furth, Susan L; Samuel, Susan; Gutman, Talia; Craig, Jonathan C; - view fewer (2022) Perspectives of Clinicians on Shared Decision Making in Pediatric CKD: A Qualitative Study. American Journal of Kidney Diseases 10.1053/j.ajkd.2021.12.009. (In press).

Kesselheim, A; Ashton, E; Bockenhauer, D; (2017) Potential and pitfalls in the genetic diagnosis of kidney diseases. Clinical Kidney Journal , 10 (5) pp. 581-585. 10.1093/ckj/sfx075.

Kiparissi, F; Dastamani, A; Palm, L; Azabdaftari, A; Campos, L; Gaynor, E; Grünewald, S; ... Jones, KDJ; + view all Kiparissi, F; Dastamani, A; Palm, L; Azabdaftari, A; Campos, L; Gaynor, E; Grünewald, S; Uhlig, HH; Kleta, R; Böckenhauer, D; Jones, KDJ; - view fewer (2023) Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. Human Genetics 10.1007/s00439-023-02523-7. (In press).

Klootwijk, E; Dufek, S; Issler, N; Bockenhauer, D; Kleta, R; (2017) Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome. Expert Opinion on Orphan Drugs , 5 (1) pp. 45-54. 10.1080/21678707.2017.1259560.

Klootwijk, ED; Reichold, M; Unwin, RJ; Kleta, R; Warth, R; Bockenhauer, D; (2015) Renal Fanconi syndrome: taking a proximal look at the nephron. Nephrology Dialysis Transplantation , 30 (9) pp. 1456-1460. 10.1093/ndt/gfu377.

König, JC; Karsay, R; Gerß, J; Schlingmann, KP; Dahmer-Heath, M; Telgmann, AK; Kollmann, S; ... Schlevogt, B; + view all König, JC; Karsay, R; Gerß, J; Schlingmann, KP; Dahmer-Heath, M; Telgmann, AK; Kollmann, S; Ariceta, G; Gillion, V; Bockenhauer, D; Bertholet-Thomas, A; Mastrangelo, A; Boyer, O; Lilien, M; Decramer, S; Schanstra, JP; Pohl, M; Schild, R; Weber, S; Hoefele, J; Drube, J; Cetiner, M; Hansen, M; Thumfart, J; Tönshoff, B; Habbig, S; Liebau, MC; Bald, M; Bergmann, C; Pennekamp, P; Konrad, M; Antczak, P; Birtel, J; Bergmann, C; Cetiner, M; Gerß, J; Haffner, D; Illig, T; Kamp-Becker, I; Klopp, N; König, J; Konrad, M; Liebau, MC; Nittel, C; Okorn, C; Omran, H; Pape, L; Pennekamp, P; Schäfer, F; Schermer, B; Storf, H; Vasseur, J; Weber, S; Wohlgemuth, K; Ziegler, W; Gimpel, C; Göbel, J; Schlevogt, B; - view fewer (2022) Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney International Reports 10.1016/j.ekir.2022.05.035. (In press).

Konrad, M; Nijenhuis, T; Ariceta, G; Bertholet-Thomas, A; Calo, LA; Capasso, G; Emma, F; ... Bockenhauer, D; + view all Konrad, M; Nijenhuis, T; Ariceta, G; Bertholet-Thomas, A; Calo, LA; Capasso, G; Emma, F; Schlingmann, KP; Singh, M; Trepiccione, F; Walsh, SB; Whitton, K; Vargas-Poussou, R; Bockenhauer, D; - view fewer (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney International , 99 (2) pp. 324-335. 10.1016/j.kint.2020.10.035.

Lambe, T; Frew, E; Ives, NJ; Woolley, RL; Cummins, C; Brettell, EA; Barsoum, EN; ... Shippey, J; + view all Lambe, T; Frew, E; Ives, NJ; Woolley, RL; Cummins, C; Brettell, EA; Barsoum, EN; Webb, NJA; James-Ellison, M; Williams, HM; Bala, P; Jones, C; Holt, R; Morgan, H; Bailey, E; Flanagan, L; Bhatti, T; Bahl, S; Walding, L; Gouta, E; Gupta, R; Kerrin, D; Parikh, A; Duthie, A; Gadong, N; Anjum, B; Crone, B; de Jesus, H; Lancoma-Malcolm, I; Plaatjies, N; Khalifa, K; McKeever, K; McCall, G; McCreesh, P; Millar, M; Hesseling, M; Kubwalo, M; Bolger, A; Hobson, L; Milford, D; Kerecuk, L; Norton, C; Rahania, N; Williamson, H; Bibi, F; Gazeley, T; Williams, J; Watson, F; Abbot, C; Frazer, S; Akeroyd, L; Ahmed, M; Muogbo, D; Backhouse, C; Boswell, S; Crosbie, E; Heinz, P; Ulbrich, B; Hegde, S; Jones, P; Webb, NJA; Lennon, R; Lewis, M; Plant, N; Shenoy, M; Sukthankar, S; Bryant, C; Douglas, S; Sumner, H; Howell, J; Elhadi, N; Bishton, I; Ayonrinde, O; Turner, A; Campbell, J; Turner, A; Gibbs, J; Newby, E; Saladi, S; Timmis, A; Burchett, C; de-Beger, S; Nair, A; Banerjee, A; Fenton, T; D Costa, S; Bowker, R; Smith, C; Natarajan, VU; Wong, LM; Parslow, P; Kandala, V; Imran, S; Chandrasekaran, S; Ho, SA; Losa, I; Marinaki, K; Keenan, N; Nichols, J; Shippey, J; - view fewer (2018) Mapping the Paediatric Quality of Life Inventory (PedsQL™) Generic Core Scales onto the Child Health Utility Index–9 Dimension (CHU-9D) Score for Economic Evaluation in Children. PharmacoEconomics , 36 (4) pp. 451-465. 10.1007/s40273-017-0600-7.

Levey, AS; Eckardt, K-U; Dorman, NM; Christiansen, SL; Hoorn, EJ; Ingelfinger, JR; Inker, LA; ... Winkelmayer, WC; + view all Levey, AS; Eckardt, K-U; Dorman, NM; Christiansen, SL; Hoorn, EJ; Ingelfinger, JR; Inker, LA; Levin, A; Mehrotra, R; Palevsky, PM; Perazella, MA; Tong, A; Allison, SJ; Bockenhauer, D; Briggs, JP; Bromberg, JS; Davenport, A; Feldman, HI; Fouque, D; Gansevoort, RT; Gill, JS; Greene, EL; Hemmelgarn, BR; Kretzler, M; Lambie, M; Lane, PH; Laycock, J; Leventhal, SE; Mittelman, M; Morrissey, P; Ostermann, M; Rees, L; Ronco, P; Schaefer, F; St Clair Russell, J; Vinck, C; Walsh, SB; Weiner, DE; Cheung, M; Jadoul, M; Winkelmayer, WC; - view fewer (2020) Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference. Kidney International , 97 (6) pp. 1117-1129. 10.1016/j.kint.2020.02.010. (In press).

Lipska-Ziętkiewicz, BS; Ozaltin, F; Hölttä, T; Bockenhauer, D; Bérody, S; Levtchenko, E; Vivarelli, M; ... Boyer, O; + view all Lipska-Ziętkiewicz, BS; Ozaltin, F; Hölttä, T; Bockenhauer, D; Bérody, S; Levtchenko, E; Vivarelli, M; Webb, H; Haffner, D; Schaefer, F; Boyer, O; - view fewer (2020) Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group. European Journal of Human Genetics 10.1038/s41431-020-0642-8.

Logeman, C; Guha, C; Howell, M; Hanson, CS; Craig, JC; Samuel, S; Zappitelli, M; ... Gutman, T; + view all Logeman, C; Guha, C; Howell, M; Hanson, CS; Craig, JC; Samuel, S; Zappitelli, M; Matsuda-Abedini, M; Dart, A; Furth, S; Eddy, A; Groothoff, J; Yap, H-K; Bockenhauer, D; Sinha, A; Alexander, S; Goldstein, S; Gipson, DS; Michael, M; Walker, A; Kausman, J; Gaillard, S; Bacchetta, J; Rheault, M; Warady, BA; Neu, A; Christian, M; McTaggart, S; Liu, I; Teo, S; Sautenet, B; Gutman, T; - view fewer (2020) Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey. American Journal of Kidney Diseases , 76 (4) pp. 533-545. 10.1053/j.ajkd.2020.03.014.

Lopez-Garcia, SC; Downie, ML; Kim, JS; Boyer, O; Walsh, SB; Nijenhuis, T; Papizh, S; ... Bockenhauer, D; + view all 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; La Scola, C; Trepiccione, F; Ariceta, G; Hummel, A; Dossier, C; Sayer, JA; Konrad, M; Keijzer-Veen, MG; Awan, A; Basu, B; Chauveau, D; Madariaga, L; Koster-Kamphius, 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; Arango Sancho, P; Schild, R; Sinha, R; Guarino, S; Jimenez, VM; Rodriguez Pena, L; Belge, H; Devuyst, O; Wlodkowski, T; Emma, F; Levtchenko, E; Knoers, NVAM; Bichet, DG; Schaefer, F; Kleta, R; Bockenhauer, D; - view fewer (2020) Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology Dialysis Transplantation , Article gfaa243. 10.1093/ndt/gfaa243. (In press).

Lopez-Garcia, SC; Emma, F; Walsh, SB; Fila, M; Hooman, N; Zaniew, M; Bertholet-Thomas, A; ... Bockenhauer, D; + view all Lopez-Garcia, SC; Emma, F; Walsh, SB; Fila, M; Hooman, N; Zaniew, M; Bertholet-Thomas, A; Colussic, G; Burgmaier, K; Levtchenko, E; Sharma, J; Soliman, NA; Ariceta, G; Basu, B; Murer, L; Tasic, V; Tsygin, A; Decramer, S; Gil-Peña, H; Koster-Kamphius, L; La Scola, C; Gellermann, J; Konrad, M; Lilien, M; Francisco, T; Tramma, D; Trnka, P; Yüksel, S; Caruso, MR; Chromek, M; Ekinci, Z; Gambaro, G; Kari, JA; König, J; Taroni, F; Thumfart, J; Trepiccione, F; Windin, L; Wuh, E; Ağbaş, A; Belkevich, A; Vargas-Poussou, R; Blanchard, A; Conti, G; Boyer, O; Dursun, I; Pınarbaşı, AS; Melek, E; Miglinas, M; Novo, R; Mallett, A; Milosevic, D; Szczepanska, M; Wente, S; Cheong, HI; Sinha, R; Gucev, Z; Dufek, S; Iancu, D; Kleta, R; Schaefer, F; Bockenhauer, D; - view fewer (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation , 34 (6) pp. 981-991. 10.1093/ndt/gfy409.

Malakasioti, G; Alders, N; Lucchini, G; Cheng, IL; Bockenhauer, D; (2019) Acute kidney injury in an infant with severe combined immunodeficiency: Questions. Pediatric Nephrology , 34 pp. 2539-2540. 10.1007/s00467-019-04302-x.

Malakasioti, G; Alders, N; Lucchinni, G; Cheng, F; Bockenhauer, D; (2019) Acute kidney injury in an infant with severe combined immunodeficiency: Answers. Pediatric Nephrology , 34 pp. 2541-2544. 10.1007/s00467-019-04303-w.

Marx-Berger, D; Milford, DV; Bandhakavi, M; Van't Hof, W; Kleta, R; Dattani, M; Bockenhauer, D; (2016) Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants. Acta Paediatrica , 105 (7) e334-e337. 10.1111/apa.13415.

Mozere, M; Tekman, M; Kari, J; Bockenhauer, D; Kleta, R; Stanescu, H; (2018) OVAS: an open-source variant analysis suite with inheritance modelling. BMC Bioinformatics , 19 p. 46. 10.1186/s12859-018-2030-8.

Oliveira, B; Kleta, R; Bockenhauer, D; Walsh, SB; (2016) Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. American Journal of Physiology - Renal Physiology , 311 (6) F1243-F1252. 10.1152/ajprenal.00211.2016.

Outtandy, P; Russell, C; Kleta, R; Bockenhauer, D; (2018) Zebrafish as a model for kidney function and disease. Pediatric Nephrology 10.1007/s00467-018-3921-7. (In press).

Patel, V; Klootwijk, E; Whiting, G; Bockenhauer, D; Siew, K; Walsh, S; Bleich, M; ... Wheeler, J; + view all Patel, V; Klootwijk, E; Whiting, G; Bockenhauer, D; Siew, K; Walsh, S; Bleich, M; Himmerkus, N; Jaureguiberry, G; Issler, N; Godovac-Zimmermann, J; Kleta, R; Wheeler, J; - view fewer (2021) Quantification of FAM20A in human milk and identification of calcium metabolism proteins. Physiological Reports , 9 (24) , Article e15150. 10.14814/phy2.15150.

Plumb, LA; van't Hoff, W; Kleta, R; Reid, C; Ashton, E; Samuels, M; Bockenhauer, D; (2016) Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV. Lancet , 388 (10044) pp. 631-632. 10.1016/S0140-6736(16)00087-8.

Reichold, M; Klootwijk, ED; Reinders, J; Otto, EA; Milani, M; Broeker, C; Laing, C; ... Kleta, R; + view all Reichold, M; Klootwijk, ED; Reinders, J; Otto, EA; Milani, M; Broeker, C; Laing, C; Wiesner, J; Devi, S; Zhou, W; Schmitt, R; Tegtmeier, I; Sterner, C; Doellerer, H; Renner, K; Oefner, PJ; Dettmer, K; Simbuerger, JM; Witzgall, R; Stanescu, HC; Dumitriu, S; Iancu, D; Patel, V; Mozere, M; Tekman, M; Jaureguiberry, G; Issler, N; Kesselheim, A; Walsh, SB; Gale, DP; Howie, AJ; Martins, JR; Hall, AM; Kasgharian, M; O'Brien, K; Ferreira, CR; Atwal, PS; Jain, M; Hammers, A; Charles-Edwards, G; Choe, C-U; Isbrandt, D; Cebrian-Serrano, A; Davies, B; Sandford, RN; Pugh, C; Konecki, DS; Povey, S; Bockenhauer, D; Lichter-Konecki, U; Gahl, WA; Unwin, RJ; Warth, R; Kleta, R; - view fewer (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology , 29 (7) pp. 1849-1858. 10.1681/ASN.2017111179.

Riachi, M; Yilmaz, S; Kurnaz, E; Aycan, Z; Çetinkaya, S; Tranebjærg, L; Rendtorff, ND; ... Hussain, K; + view all Riachi, M; Yilmaz, S; Kurnaz, E; Aycan, Z; Çetinkaya, S; Tranebjærg, L; Rendtorff, ND; Bitner-Glindzicz, M; Bockenhauer, D; Hussain, K; - view fewer (2019) Functional Assessment of Variants Associated with Wolfram Syndrome. Human Molecular Genetics , 28 (22) pp. 3815-3824. 10.1093/hmg/ddz212.

Riedhammer, KM; Schmaderer, C; Heemann, U; Bockenhauer, D; (2021) Tubulopathies. Der Nephrologe , 16 (6) pp. 397-410. 10.1007/s11560-021-00547-6.

Sadeghi-Alavijeh, Omid; Chan, Melanie My; Doctor, Gabriel T; Voinescu, Catalin D; Stuckey, Alexander; Kousathanas, Athanasios; Ho, Alexander T; ... Gale, Daniel P; + view all Sadeghi-Alavijeh, Omid; Chan, Melanie My; Doctor, Gabriel T; Voinescu, Catalin D; Stuckey, Alexander; Kousathanas, Athanasios; Ho, Alexander T; Stanescu, Horia C; Bockenhauer, Detlef; Sandford, Richard N; Levine, Adam P; Gale, Daniel P; - view fewer (2024) Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of Clinical Investigation (JCI) , Article e181467. 10.1172/JCI181467.

Sadeghi-Alavijeh, Omid; Chan, Melanie MY; Stanescu, Horia; Gale, Daniel P; Bockenhauer, Detlef; (2025) 50 Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases. Journal of the American Society of Nephrology 10.1681/ASN.0000000893. (In press).

Saito, H; Noda, H; Philippe, G; Bockenhauer, D; Loke, KY; Hiort, O; Silve, C; ... Jueppner, H; + view all Saito, H; Noda, H; Philippe, G; Bockenhauer, D; Loke, KY; Hiort, O; Silve, C; Sharwood, E; Matsungaga Martin, R; Dillon, M; Gillis, D; Harris, M; Rao, SD; Pauli, R; Gardella, TJ; Jueppner, H; - view fewer (2018) Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia. The Journal of Clinical Endocrinology & Metabolism , 103 (7) pp. 2660-2669. 10.1210/jc.2018-00332.

Sawan, ZA; El-Desoky, SM; Shalaby, MA; Bockenhauer, D; Kari, JA; (2017) Facial swelling in a child on chronic hemodialysis: Answers. Pediatric Nephrology , 32 (8) pp. 1351-1353. 10.1007/s00467-016-3525-z.

Sawan, ZA; El-Desoky, SM; Shalaby, MA; Bockenhauer, D; Kari, JA; (2017) Facial swelling in a child on chronic hemodialysis: Questions. Pediatric Nephrology , 32 (8) pp. 1349-1350. 10.1007/s00467-016-3523-1.

Schaefer, F; Mekahli, D; Emma, F; Gilbert, RD; Bockenhauer, D; Cadnapaphornchai, MA; Shi, L; ... Shoaf, SE; + view all Schaefer, F; Mekahli, D; Emma, F; Gilbert, RD; Bockenhauer, D; Cadnapaphornchai, MA; Shi, L; Dandurand, A; Sikes, K; Shoaf, SE; - view fewer Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial. European Journal of Pediatrics 10.1007/s00431-019-03384-x. (In press).

Schlingmann, KP; Bandulik, S; Mammen, C; Tarailo-Graovac, M; Holm, R; Baumann, M; König, J; ... Konrad, M; + view all Schlingmann, KP; Bandulik, S; Mammen, C; Tarailo-Graovac, M; Holm, R; Baumann, M; König, J; Lee, JJY; Drögemöller, B; Imminger, K; Beck, B; Altmüller, J; Thiele, H; Waldegger, S; van’t Hoff, W; Kleta, R; Warth, R; van Karnebeek, CDM; Vilsen, B; Bockenhauer, D; Konrad, M; - view fewer (2018) Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. The American Journal of Human Genetics , 103 (5) pp. 808-816. 10.1016/j.ajhg.2018.10.004.

Schlingmann, KP; Renigunta, A; Hoorn, EJ; Forst, A-L; Renigunta, V; Atanasov, V; Mahendran, S; ... Konrad, M; + view all Schlingmann, KP; Renigunta, A; Hoorn, EJ; Forst, A-L; Renigunta, V; Atanasov, V; Mahendran, S; Barakat, TS; Gillion, V; Godefroid, N; Brooks, AS; Lugtenberg, D; Lake, J; Debaix, H; Rudin, C; Knebelmann, B; Tellier, S; Rousset-Rouvière, C; Viering, D; deBaaij, JHF; Weber, S; Palygin, O; Staruschenko, A; Kleta, R; Houillier, P; Bockenhauer, D; Devuyst, O; Vargas-Poussou, R; Warth, R; Zdebik, AA; Konrad, M; - view fewer (2021) Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology , 32 (5) 10.1681/ASN.2020111587.

Schmidts, M; Vodopiutz, J; Christou-Savina, S; Cortés, CR; McInerney-Leo, AM; Emes, RD; Arts, HH; ... Mitchison, HM; + view all Schmidts, M; Vodopiutz, J; Christou-Savina, S; Cortés, CR; McInerney-Leo, AM; Emes, RD; Arts, HH; Tüysüz, B; D'Silva, J; Leo, PJ; Giles, TC; Oud, MM; Harris, JA; Koopmans, M; Marshall, M; Elçioglu, N; Kuechler, A; Bockenhauer, D; Moore, AT; Wilson, LC; Janecke, AR; Hurles, ME; Emmet, W; Gardiner, B; Streubel, B; Dopita, B; Zankl, A; Kayserili, H; Scambler, PJ; Brown, MA; Beales, PL; Wicking, C; UK10K; Duncan, EL; Mitchison, HM; - view fewer (2013) Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. The American Journal of Human Genetics , 93 (5) 932 - 944. 10.1016/j.ajhg.2013.10.003.

Sekula, P; Li, Y; Stanescu, HC; Wuttke, M; Ekici, AB; Bockenhauer, D; Walz, G; ... Koettgen, A; + view all Sekula, P; Li, Y; Stanescu, HC; Wuttke, M; Ekici, AB; Bockenhauer, D; Walz, G; Powis, SH; Kielstein, JT; Brenchley, P; Eckardt, K-U; Kronenberg, F; Kleta, R; Koettgen, A; - view fewer (2016) Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Nephrology Dialysis Transplantation , 32 (2) pp. 325-332. 10.1093/ndt/gfw001.

Sharma, S; Ashton, E; Iancu, D; Arthus, M-F; Hayes, W; Van't Hoff, W; Kleta, R; ... Bockenhauer, D; + view all Sharma, S; Ashton, E; Iancu, D; Arthus, M-F; Hayes, W; Van't Hoff, W; Kleta, R; Bichet, DG; Bockenhauer, D; - view fewer (2018) Long-term outcome in inherited Nephrogenic Diabetes Insipidus. CKJ: Clinical Kidney Journal 10.1093/ckj/sfy027.

Shenoy, S; Bockenhauer, D; (2024) Challenges in using fractional excretion of sodium in the assessment of salt poisoning. Acta Paediatrica: Nurturing the Child , 113 (1) 15--154. 10.1111/apa.16734.

Simpkin, A; Cochran, E; Cameron, F; Dattani, M; de Bock, M; Dunger, DB; Forsander, G; ... Bockenhauer, D; + view all Simpkin, A; Cochran, E; Cameron, F; Dattani, M; de Bock, M; Dunger, DB; Forsander, G; Guran, T; Harris, J; Isaac, I; Hussain, K; Kleta, R; Peters, C; Tasic, V; Williams, R; Yap Kok Peng, F; O'Rahilly, S; Gorden, P; Semple, RK; Bockenhauer, D; - view fewer (2014) Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron Physiology , 128 (3-4) 10.1159/000366225.

Sinha, Rajiv; Pradhan, Subal; Banerjee, Sushmita; Jahan, Afsana; Akhtar, Shakil; Pahari, Amitava; Raut, Sumantra; ... Mandal, Kausik; + view all Sinha, Rajiv; Pradhan, Subal; Banerjee, Sushmita; Jahan, Afsana; Akhtar, Shakil; Pahari, Amitava; Raut, Sumantra; Parakh, Prince; Basu, Surupa; Srivastava, Priyanka; Nayak, Snehamayee; Thenral, SG; Ramprasad, V; Ashton, Emma; Bockenhauer, Detlef; Mandal, Kausik; - view fewer (2022) Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study. Pediatric Nephrology , 37 pp. 1811-1836. 10.1007/s00467-021-05388-y.

Smeulders, N; Cho, A; Alshaiban, A; Read, K; Fagan, A; Easty, M; Minhas, K; ... Bockenhauer, D; + view all Smeulders, N; Cho, A; Alshaiban, A; Read, K; Fagan, A; Easty, M; Minhas, K; Barnacle, A; Hayes, W; Bockenhauer, D; - view fewer (2022) Shockwaves and the Rolling Stones: An Overview of Pediatric Stone Disease. Kidney International Reports 10.1016/j.ekir.2022.11.017. (In press).

Stiles, CE; Thursaisingham, R; Bockenhauer, D; Platts, L; Kumar, A; Korbonits, M; (2018) De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia. Endocrinology, Diabetes and Metabolism Case Reports , 2018 (1) 10.1530/EDM-17-0120.

Tahoun, M; Chandler, JC; Ashton, E; Haston, S; Hannan, A; Kim, JS; D'Arco, F; ... Waters, AM; + view all Tahoun, M; Chandler, JC; Ashton, E; Haston, S; Hannan, A; Kim, JS; D'Arco, F; Bockenhauer, D; Anderson, G; Lin, M-H; Marzouk, S; Saied, MH; Miner, JH; Dattani, M; Waters, AM; - view fewer (2019) 'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'. The Journal of Clinical Endrocrinology & Metabolism , 105 (3) pp. 595-599. 10.1210/clinem/dgz216.

Tan, HL; Marlais, M; Veligratli, F; Shah, S; Hayes, W; Bockenhauer, D; (2024) Treatment of paediatric renal tubular acidosis with a prolonged-release alkali supplementation. Pediatric Nephrology , 39 pp. 3373-3375. 10.1007/s00467-024-06411-8.

Tong, A; Manns, B; Wang, AYM; Hemmelgarn, B; Wheeler, DC; Gill, J; Tugwell, P; ... Craig, JC; + view all Tong, A; Manns, B; Wang, AYM; Hemmelgarn, B; Wheeler, DC; Gill, J; Tugwell, P; Pecoits-Filho, R; Crowe, S; Harris, T; Van Biesen, WV; Winkelmayer, W; Levin, A; Thompson, A; Perkovic, V; Ju, A; Gutman, T; Bernier-Jean, A; Viecelli, A; O'Lone, E; Shen, J; Josephson, MA; Cho, Y; Sautenet, B; Tonelli, M; Craig, JC; - view fewer (2018) Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop. Kidney International , 94 (6) pp. 1053-1068. 10.1016/j.kint.2018.08.018.

Tong, A; Samuel, S; Zappitelli, M; Dart, A; Furth, S; Eddy, A; Groothoff, J; ... Craig, JC; + view all Tong, A; Samuel, S; Zappitelli, M; Dart, A; Furth, S; Eddy, A; Groothoff, J; Webb, NJA; Yap, H-K; Bockenhauer, D; Sinha, A; Alexander, SI; Goldstein, SL; Gipson, DS; Hanson, CS; Evangelidis, N; Crowe, S; Harris, T; Hemmelgarn, BR; Manns, B; Gill, J; Tugwell, P; Van Biesen, W; Wheeler, DC; Winkelmayer, WC; Craig, JC; - view fewer (2016) Standardised Outcomes in Nephrology-Children and Adolescents (SONG-Kids): a protocol for establishing a core outcome set for children with chronic kidney disease. Trials , 17 , Article 401. 10.1186/s13063-016-1528-5.

Trepiccione, F; Walsh, SB; Ariceta, G; Boyer, O; Emma, F; Camilla, R; Ferraro, PM; ... Bockenhauer, D; + view all Trepiccione, F; Walsh, SB; Ariceta, G; Boyer, O; Emma, F; Camilla, R; Ferraro, PM; Haffner, D; Konrad, M; Levtchenko, E; Lopez-Garcia, SC; Santos, F; Stabouli, S; Szczepanska, M; Tasic, V; Topaloglu, R; Vargas-Poussou, R; Wlodkowski, T; Bockenhauer, D; - view fewer (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points. Nephrology Dialysis Transplantation , 36 (9) pp. 1585-1596. 10.1093/ndt/gfab171.

Tschernoster, Nikolai; Erger, Florian; Kohl, Stefan; Reusch, Björn; Wenzel, Andrea; Walsh, Stephen; Thiele, Holger; ... Altmüller, Janine; + view all Tschernoster, Nikolai; Erger, Florian; Kohl, Stefan; Reusch, Björn; Wenzel, Andrea; Walsh, Stephen; Thiele, Holger; Becker, Christian; Franitza, Marek; Bartram, Malte P; Kömhoff, Martin; Schumacher, Lena; Kukat, Christian; Borodina, Tatiana; Quedenau, Claudia; Nürnberg, Peter; Rinschen, Markus M; Driller, Jan H; Pedersen, Bjørn P; Schlingmann, Karl P; Hüttel, Bruno; Bockenhauer, Detlef; Beck, Bodo; Altmüller, Janine; - view fewer (2023) Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome Medicine volume , 15 , Article 62. 10.1186/s13073-023-01215-1.

Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; Sanchis-Juan, A; Frontini, M; Thys, C; Stephens, J; Mapeta, R; Burren, OS; Downes, K; Haimel, M; Tuna, S; Deevi, SVV; Aitman, TJ; Bennett, DL; Calleja, P; Carss, K; Caulfield, MJ; Chinnery, PF; Dixon, PH; Gale, DP; James, R; Koziell, A; Laffan, MA; Levine, AP; Maher, ER; Markus, HS; Morales, J; Morrell, NW; Mumford, AD; Ormondroyd, E; Rankin, S; Rendon, A; Richardson, S; Roberts, I; Roy, NBA; Saleem, MA; Smith, KGC; Stark, H; Tan, RYY; Themistocleous, AC; Thrasher, AJ; Watkins, H; Webster, AR; Wilkins, MR; Williamson, C; Whitworth, J; Humphray, S; Bentley, DR; NIHR BioResource for the 100,000 Genomes Project, .; Kingston, N; Walker, N; Bradley, JR; Ashford, S; Penkett, CJ; Freson, K; Stirrups, KE; Raymond, FL; Ouwehand, WH; - view fewer (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2.

Veligratli, Faidra; Alexandrou, Demitra; Shah, Sarit; Amin, Rakesh; Dattani, Mehul; Gan, Hoong-Wei; Famuboni, Adeola; ... Bockenhauer, Detlef; + view all Veligratli, Faidra; Alexandrou, Demitra; Shah, Sarit; Amin, Rakesh; Dattani, Mehul; Gan, Hoong-Wei; Famuboni, Adeola; Lopez-Garcia, Camilo; Trompeter, Richard; Bockenhauer, Detlef; - view fewer (2023) Tolvaptan and urea in paediatric hyponatraemia. Pediatric Nephrology , 39 (1) pp. 177-183. 10.1007/s00467-023-06091-w.

Verjans, Marcelien; Hindryckx, An; Rosier, Karen; Devriendt, Koen; Mekahli, Djalila; Bockenhauer, Detlef; (2024) Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2. Pediatric Nephrology , 39 pp. 2911-2913. 10.1007/s00467-024-06403-8.

Verploegen, Maartje FA; Vargas-Poussou, Rosa; Walsh, Stephen B; Alpay, Harika; Amouzegar, Atefeh; Ariceta, Gema; Atmis, Bahriye; ... Nijenhuis, Tom; + view all Verploegen, Maartje FA; Vargas-Poussou, Rosa; Walsh, Stephen B; Alpay, Harika; Amouzegar, Atefeh; Ariceta, Gema; Atmis, Bahriye; Bacchetta, Justine; Bárány, Peter; Baron, Stéphanie; Bayrakci, Umut Selda; Belge, Hendrica; Besouw, Martine; Blanchard, Anne; Bökenkamp, Arend; Boyer, Olivia; Burgmaier, Kathrin; Calò, Lorenzo A; Decramer, Stéphane; Devuyst, Olivier; van Dyck, Maria; Ferraro, Pietro Manuel; Fila, Marc; Francisco, Telma; Ghiggeri, Gian Marco; Gondra, Leire; Guarino, Stefano; Hooman, Nakysa; Hoorn, Ewout J; Houillier, Pascal; Kamperis, Konstantinos; Kari, Jameela A; Konrad, Martin; Levtchenko, Elena; Lucchetti, Laura; Lugani, Francesca; Marzuillo, Pierluigi; Mohidin, Barian; Neuhaus, Thomas J; Osman, Abdaldafae; Papizh, Svetlana; Perelló, Manel; Rookmaaker, Maarten B; Conti, Valerie Said; Santos, Fernando; Sawaf, Ghalia; Serdaroglu, Erkin; Szczepanska, Maria; Taroni, Francesca; Topaloglu, Rezan; Trepiccione, Francesco; Vidal, Enrico; Wan, Elizabeth R; Weber, Lutz; Yildirim, Zeynep Yuruk; Yüksel, Selçuk; Zlatanova, Galia; Bockenhauer, Detlef; Emma, Francesco; Nijenhuis, Tom; - view fewer (2022) Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. Nephrology Dialysis Transplantation , 37 (12) pp. 2474-2786. 10.1093/ndt/gfac029.

Veys, Koenraad; Zadora, Ward; Hohenfellner, Katharina; Bockenhauer, Detlef; Janssen, Mirian CH; Niaudet, Patrick; Servais, Aude; ... Levtchenko, Elena; + view all Veys, Koenraad; Zadora, Ward; Hohenfellner, Katharina; Bockenhauer, Detlef; Janssen, Mirian CH; Niaudet, Patrick; Servais, Aude; Topaloglu, Rezan; Besouw, Martine; Novo, Robert; Haffner, Dieter; Kanzelmeyer, Nele; Pape, Lars; Wühl, Elke; Harms, Erik; Awan, Atif; Sikora, Przemyslaw; Ariceta, Gema; Van den Heuvel, Bert; Levtchenko, Elena; - view fewer (2023) Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study. Journal of Inherited Metabolic Disease , 46 (1) pp. 43-54. 10.1002/jimd.12562.

Viering, D; Schlingmann, K-P; Hureaux, M; Nijenhuis, T; Mallett, A; Chan, MMY; van Beek, A; ... de Baaij, J; + view all Viering, D; Schlingmann, K-P; Hureaux, M; Nijenhuis, T; Mallett, A; Chan, MMY; van Beek, A; van Eerde, AM; Coulibaly, J-M; Vallet, M; Decramer, S; Pelletier, S; Klaus, G; Komhoff, M; Beetz, R; Patel, C; Shenoy, M; Steenbergen, EJ; Anderson, G; Bongers, EMHF; Bergmann, C; Pannerman, D; Rodenburg, RJ; Kleta, R; Konrad, M; Vargas-Poussou, R; Knoers, N; Bockenhauer, D; de Baaij, J; - view fewer (2021) Gitelman-like syndrome caused by pathogenic variants in mtDNA. Journal of the American Society of Nephrology : JASN (In press).

Viering, DH; de Baaij, JH; Walsh, SB; Kleta, R; Bockenhauer, D; (2017) Genetic causes of hypomagnesemia, a clinical overview. Pediatric Nephrology , 32 (7) pp. 1123-1135. 10.1007/s00467-016-3416-3.

Viering, DHHM; Chan, MMY; Hoogenboom, L; Iancu, D; de Baaij, JHF; Tullus, K; Kleta, R; Viering, DHHM; Chan, MMY; Hoogenboom, L; Iancu, D; de Baaij, JHF; Tullus, K; Kleta, R; Bockenhauer, D; - view fewer (2020) Genetics of renovascular hypertension in children. Journal of Hypertension , 38 (10) pp. 1964-1970. 10.1097/HJH.0000000000002491.

Wagner, Carsten A; Unwin, Robert; Lopez-Garcia, Sergio C; Kleta, Robert; Bockenhauer, Detlef; Walsh, Stephen; (2023) The pathophysiology of distal renal tubular acidosis. Nature Reviews Nephrology , 19 pp. 384-400. 10.1038/s41581-023-00699-9.

Walker, Emma; Hayes, Wesley; Bockenhauer, Detlef; (2024) Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review. Best Practice & Research Clinical Endocrinology & Metabolism , 38 (2) , Article 101843. 10.1016/j.beem.2023.101843.

Walker, Emma Yi Xiu; Lindsay, Timothy Alexander James; Allgrove, Jeremy; Marlais, Matko; Bockenhauer, Detlef; Hayes, Wesley; (2023) Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels. Archives of Disease in Childhood 10.1136/archdischild-2022-324962. (In press).

Wallace, D; Lichtarowicz-Krynska, E; Bockenhauer, D; (2016) Non-accidental salt poisoning. Archives of Disease in Childhood , 102 (2) pp. 119-122. 10.1136/archdischild-2016-310437.

Walsh, PR; Tse, Y; Ashton, E; Iancu, D; Jenkins, L; Bienias, M; Kleta, R; ... Bockenhauer, D; + view all Walsh, PR; Tse, Y; Ashton, E; Iancu, D; Jenkins, L; Bienias, M; Kleta, R; van't Hoff, W; Bockenhauer, D; - view fewer (2018) Clinical and diagnostic features of Bartter and Gitelman syndromes. Clinical Kidney Journal , 11 (3) 10.1093/ckj/sfx118.

Walsh, SB; Unwin, R; Kleta, R; Van't Hoff, W; Bass, P; Hussain, K; Ellard, S; Walsh, SB; Unwin, R; Kleta, R; Van't Hoff, W; Bass, P; Hussain, K; Ellard, S; Bockenhauer, D; - view fewer (2017) Fainting Fanconi syndrome clarified by proxy: a case report. BMC Nephrology , 18 , Article 230. 10.1186/s12882-017-0649-8.

Warejko, JK; Tan, W; Daga, A; Schapiro, D; Lawson, JA; Shril, S; Lovric, S; ... Hildebrandt, F; + view all Warejko, JK; Tan, W; Daga, A; Schapiro, D; Lawson, JA; Shril, S; Lovric, S; Ashraf, S; Rao, J; Hermle, T; Jobst-Schwan, T; Widmeier, E; Majmundar, AJ; Schneider, R; Gee, HY; Schmidt, JM; Vivante, A; van der Ven, AT; Ityel, H; Chen, J; Sadowski, CE; Kohl, S; Pabst, WL; Nakayama, M; Somers, MJG; Rodig, NM; Daouk, G; Baum, M; Stein, DR; Ferguson, MA; Traum, AZ; Soliman, NA; Kari, JA; El Desoky, S; Fathy, H; Zenker, M; Bakkaloglu, SA; Mueller, D; Noyan, A; Ozaltin, F; Cadnapaphornchai, MA; Hashmi, S; Hopcian, J; Kopp, JB; Benador, N; Bockenhauer, D; Bogdanovic, R; Stajic, N; Chernin, G; Ettenger, R; Fehrenbach, H; Kemper, M; Munarriz, RL; Podracka, L; Buscher, R; Serdaroglu, E; Tasic, V; Mane, S; Lifton, RP; Braun, DA; Hildebrandt, F; - view fewer (2018) Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal of the American Society of Nephrology , 13 (1) pp. 53-62. 10.2215/CJN.04120417.

Webb, H; Jaureguiberry, G; Dufek, S; Tullus, K; Bockenhauer, D; (2016) Cyclophosphamide and rituximab in frequently relapsing/steroid-dependent nephrotic syndrome. Pediatric Nephrology , 31 (4) pp. 589-594. 10.1007/s00467-015-3245-9.

Webb, NJ; Frew, E; Brettell, EA; Milford, DV; Bockenhauer, D; Saleem, MA; Christian, M; ... Ives, NJ; + view all Webb, NJ; Frew, E; Brettell, EA; Milford, DV; Bockenhauer, D; Saleem, MA; Christian, M; Hall, AS; Koziell, A; Maxwell, H; Hegde, S; Finlay, ER; Gilbert, RD; Booth, J; Jones, C; McKeever, K; Cook, W; Ives, NJ; - view fewer (2014) Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial. Trials , 15 , Article 147. 10.1186/1745-6215-15-147.

Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all 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; - view fewer (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520.

Wheeler, DC; Bockenhauer, D; Day, S; Devuyst, O; Guay-Woodford, LM; Ingelfinger, JR; Klein, JB; ... Winkelmayer, W; + view all Wheeler, DC; Bockenhauer, D; Day, S; Devuyst, O; Guay-Woodford, LM; Ingelfinger, JR; Klein, JB; Knoers, NVAM; Perrone, RD; Roberts, J; Schaefer, F; Torres, VE; Cheung, M; Winkelmayer, W; - view fewer (2017) Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International , 92 (4) pp. 796-808. 10.1016/j.kint.2017.06.018.

Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; ... Gale, Daniel P; + view all Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Coward, Richard J; Chrysochou, Tina; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick WK; Thomas, Kay; Turner, A Neil; Walsh, Stephen B; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Sy, Karla Therese L; Huang, Kui; Ye, Jamie; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P; - view fewer (2024) Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney International Reports , 9 (7) pp. 2067-2083. 10.1016/j.ekir.2024.04.062.

Wu, JG-A; Tong, A; Evangelidis, N; Manera, KE; Hanson, CS; Baumgart, A; Amir, N; ... Craig, JC; + view all Wu, JG-A; Tong, A; Evangelidis, N; Manera, KE; Hanson, CS; Baumgart, A; Amir, N; Sinha, A; Dart, A; Eddy, AA; Guha, C; Gipson, DS; Bockenhauer, D; Yap, H-K; Groothoff, J; Zappitelli, M; Alexander, SI; Furth, SL; Samuel, S; Carter, SA; Walker, A; Kausman, J; Martinez-Martin, D; Gutman, T; Craig, JC; - view fewer (2021) Patient and caregiver perspectives on blood pressure in children with chronic kidney disease. Nephrology Dialysis Transplantation , 37 (7) pp. 1330-1339. 10.1093/ndt/gfab194.

Xie, J; Liu, L; Mladkova, N; Li, Y; Ren, H; Wang, W; Cui, Z; ... Kiryluk, K; + view all Xie, J; Liu, L; Mladkova, N; Li, Y; Ren, H; Wang, W; Cui, Z; Lin, L; Hu, X; Yu, X; Xu, J; Liu, G; Caliskan, Y; Sidore, C; Balderes, O; Rosen, RJ; Bodria, M; Zanoni, F; Zhang, JY; Krithivasan, P; Mehl, K; Marasa, M; Khan, A; Ozay, F; Canetta, PA; Bomback, AS; Appel, GB; Sanna-Cherchi, S; Sampson, MG; Mariani, LH; Perkowska-Ptasinska, A; Durlik, M; Mucha, K; Moszczuk, B; Foroncewicz, B; Pączek, L; Habura, I; Ars, E; Ballarin, J; Mani, L-Y; Vogt, B; Ozturk, S; Yildiz, A; Seyahi, N; Arikan, H; Koc, M; Basturk, T; Karahan, G; Akgul, SU; Sever, MS; Zhang, D; Santoro, D; Bonomini, M; Londrino, F; Gesualdo, L; Reiterova, J; Tesar, V; Izzi, C; Savoldi, S; Spotti, D; Marcantoni, C; Messa, P; Galliani, M; Roccatello, D; Granata, S; Zaza, G; Lugani, F; Ghiggeri, G; Pisani, I; Allegri, L; Sprangers, B; Park, J-H; Cho, B; Kim, YS; Kim, DK; Suzuki, H; Amoroso, A; Cattran, DC; Fervenza, FC; Pani, A; Hamilton, P; Harris, S; Gupta, S; Cheshire, C; Dufek, S; Issler, N; Pepper, RJ; Connolly, J; Powis, S; Bockenhauer, D; Stanescu, HC; Ashman, N; Loos, RJF; Kenny, EE; Wuttke, M; Eckardt, K-U; Köttgen, A; Hofstra, JM; Coenen, MJH; Kiemeney, LA; Akilesh, S; Kretzler, M; Beck, LH; Stengel, B; Debiec, H; Ronco, P; Wetzels, JFM; Zoledziewska, M; Cucca, F; Ionita-Laza, I; Lee, H; Hoxha, E; Stahl, RAK; Brenchley, P; Scolari, F; Zhao, M-H; Gharavi, AG; Kleta, R; Chen, N; Kiryluk, K; - view fewer (2020) The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nature Communications , 11 (1) , Article 1600. 10.1038/s41467-020-15383-w.

Zaniew, M; Bökenkamp, A; Kołbuc, M; La Scola, C; Baronio, F; Niemirska, A; Szczepańska, M; ... Bockenhauer, D; + view all Zaniew, M; Bökenkamp, A; Kołbuc, M; La Scola, C; Baronio, F; Niemirska, A; Szczepańska, M; Bürger, J; La Manna, A; Miklaszewska, M; Rogowska-Kalisz, A; Gellermann, J; Zampetoglou, A; Wasilewska, A; Roszak, M; Moczko, J; Krzemień, A; Runowski, D; Siteń, G; Załuska-Leśniewska, I; Fonduli, P; Zurrida, F; Paglialonga, F; Gucev, Z; Paripovic, D; Rus, R; Said-Conti, V; Sartz, L; Chung, WY; Park, SJ; Lee, JW; Park, YH; Ahn, YH; Sikora, P; Stefanidis, CJ; Tasic, V; Konrad, M; Anglani, F; Addis, M; Cheong, HI; Ludwig, M; Bockenhauer, D; - view fewer (2016) Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Nephrology Dialysis Transplantation , 33 (1) pp. 85-94. 10.1093/ndt/gfw350.

Zdebik, AA; Mahmood, F; Stanescu, HC; Kleta, R; Bockenhauer, D; Russell, C; (2013) Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings. PLoS One , 8 (11) , Article e79765. 10.1371/journal.pone.0079765.

Zhang, Yifan; Gutman, Talia; Tong, Allison; Craig, Jonathan C; Sinha, Aditi; Dart, Allison; Eddy, Allison A; ... Hanson, Camilla S; + view all Zhang, Yifan; Gutman, Talia; Tong, Allison; Craig, Jonathan C; Sinha, Aditi; Dart, Allison; Eddy, Allison A; Gipson, Debbie S; Bockenhauer, Detlef; Yap, Hui-Kim; Groothoff, Jaap; Zappitelli, Michael; Webb, Nicholas J A; Alexander, Stephen I; Furth, Susan; Samuel, Susan; Blydt-Hansen, Tom D; Dionne, Janis; Michael, Mini; Wenderfer, Scott E; Winkelmayer, Wolfgang C; McTaggart, Steven; Walker, Amanda; Zimmerman, Cortney T; Ralph, Angelique F; Ju, Angela; James, Laura J; Hanson, Camilla S; - view fewer (2023) Child and caregiver perspectives on access to psychosocial and educational support in pediatric chronic kidney disease: a focus group study. Pediatric Nephrology , 38 pp. 249-260. 10.1007/s00467-022-05551-z.

Conference item

Bockenhauer, D; Emma, F; Talhi, A; Papizh, S; Atmis, B; Homan, N; Aksu, B; ... Topologlu, R; + view all Bockenhauer, D; Emma, F; Talhi, A; Papizh, S; Atmis, B; Homan, N; Aksu, B; Santos, F; Boyer, O; Fila, M; Bayrakci, US; Eid, LAO; VanDyck, M; Moguel, C; Yuksel, S; Canpolat, N; Schaefer, F; Oh, J; Liebau, M; Ariceta Iraola, MG; Vargas-Poussou, R; Levtchenko, E; Lopez-Garcia, SC; Wlodkowski, T; Topologlu, R; - view fewer (2021) The European dRTA Registry: an initial data analysis. Presented at: 58th Congress of the European-Renal-Association (ERA)-European-Dialysis-and-Transplant-Association (EDTA).

Thesis

Dufek-Kamperis, Stephanie; (2020) Genome wide association study in steroid sensitive nephrotic syndrome. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Sun Jan 4 09:27:59 2026 GMT.