2022

Issler, N., Afonso, S., Weissman, I., Jordan, K., Cebrian-Serrano, A., Meindl, K., ...Robles-López, J.M. (2022). A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.. Journal of the American Society of Nephrology, doi:10.1681/ASN.2021101312
Issler, N., Afonso, S., Weissman, I., Jordan, K., Cebrian-Serrano, A., Meindl, K., ...Robles-López, J.M. (2022). A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.. Journal of the American Society of Nephrology, doi:10.1681/ASN.2021101312
Bockenhauer, D., Mushtaq, I., Faravelli, F. (2022). Absent abdominal musculature in a girl. Kidney International, 101 (4), 833. doi:10.1016/j.kint.2021.10.016
Snoek, R., Claus, L.R., Peters, E.D.J., Savelberg, S.M.C., Duran, K., van der Veen, S.W., ...Nguyen, T.Q. (2022). Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype.
Zhang, Y., Gutman, T., Tong, A., Craig, J.C., Sinha, A., Dart, A., ...Yap, H.-.K. (2022). Child and caregiver perspectives on access to psychosocial and educational support in pediatric chronic kidney disease: a focus group study.. Pediatric Nephrology, doi:10.1007/s00467-022-05551-z
Christian, M.T., Webb, N.J., Woolley, R.L., Afentou, N., Mehta, S., Frew, E., ...Bockenhauer, D. (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), 1-94. doi:10.3310/WTFC5658
Savige, J., Renieri, A., Ars, E., Daga, S., Pinto, A.M., Rothe, H., ...Bielska, O. (2022). Digenic Alport Syndrome.. Clinical Journal of the American Society of Nephrology, doi:10.2215/CJN.03120322
Bockenhauer, D., Bichet, D.G. (2022). Genetic Testing and FOX News.. American Journal of Nephrology, 1-4. doi:10.1159/000522227
KDIGO Conference, P.a.r.t.i.c.i.p.a.n.t.s. (2022). Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101 (6), 1126-1141. doi:10.1016/j.kint.2022.03.019
KDIGO Conference, P.a.r.t.i.c.i.p.a.n.t.s. (2022). Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101 (6), 1126-1141. doi:10.1016/j.kint.2022.03.019
Gibson, J.T., Huang, M., Shenelli Croos Dabrera, M., Shukla, K., Rothe, H., Hilbert, P., ...Chan, M.M.Y. (2022). Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. Scientific Reports, 12 (1), doi:10.1038/s41598-022-06525-9
de Baaij, J.H.F., Viering, D., Schlingmann, K.P., Hureaux, M., Nijenhuis, T., Knoers, N.V., ...Bockenhauer, D. (2022). Gitelman-like syndrome caused by pathogenic variants in mitochondrial DNA..
Liang, K.V., Ellis, B.K., Stokes, M.B., Smith, R.J., Gu, X., Gale, D.P. (2022). Hematuria and Proteinuria in a Patient With Recurrent Pulmonary Illnesses: A Quiz. American Journal of Kidney Diseases, 79 (6), A13-A15. doi:10.1053/j.ajkd.2021.10.015
Downie, M., Shroff, R., Bockenhauer, D. (2022). Is my PET in my genes?. Pediatric Nephrology, doi:10.1007/s00467-022-05452-1
Morais, M.R., Tian, P., Lawless, C., Murtuza-Baker, S., Hopkinson, L., Woods, S., ...Zorn, T.M. (2022). Kidney organoids recapitulate human basement membrane assembly in health and disease. eLife, 11 doi:10.7554/eLife.73486
Verploegen, M.F.A., Vargas-Poussou, R., Walsh, S.B., Alpay, H., Amouzegar, A., Ariceta, G., ...Baron, S. (2022). Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfac029
Kerklaan, J., Hanson, C.S., Carter, S., Tong, A., Sinha, A., Dart, A., ...Bockenhauer, D. (2022). Perspectives of Clinicians on Shared Decision Making in Pediatric CKD: A Qualitative Study. American Journal of Kidney Diseases, doi:10.1053/j.ajkd.2021.12.009
Sas, D.J., Magen, D., Hayes, W., Shasha-Lavsky, H., Michael, M., Schulte, I., ...Habtemariam, B. (2022). Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children. Genetics in Medicine, 24 (3), 654-662. doi:10.1016/j.gim.2021.10.024
Daga, S., Ding, J., Deltas, C., Savige, J., Lipska-Zietkiewicz, B.S., Hoefele, J., ...Kai, H. (2022). The 2019 and 2021 International Workshops on Alport Syndrome. European Journal of Human Genetics, doi:10.1038/s41431-022-01075-0
Khalil, Y., Carrino, S., Lin, F., Ferlin, A., Lad, H.V., Mazzacuva, F., ...Concas, D. (2022). Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International Journal of Molecular Sciences, 23 (2), doi:10.3390/ijms23020987
Sinha, R., Pradhan, S., Banerjee, S., Jahan, A., Akhtar, S., Pahari, A., ...Srivastava, P. (2022). Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study. PEDIATRIC NEPHROLOGY, doi:10.1007/s00467-021-05388-y

2021

100,000 Genomes Project Pilot, I.n.v.e.s.t.i.g.a.t.o.r.s., Smedley, D., Smith, K.R., Martin, A., Thomas, E.A., McDonagh, E.M., ...Tucci, A. (2021). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.. New England Journal of Medicine, 385 (20), 1868-1880. doi:10.1056/NEJMoa2035790
Dachy, A., De Rechter, S., Guay-Woodford, L., Mallett, A.J., Harris, T., Bockenhauer, D., ...Mekahli, D. (2021). ADPEDKD: A GLOBAL ONLINE PLATFORM TO EXPLORE THE CHILDHOOD PHENOTYPE OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE.
Dachy, A., De Rechter, S., Guay-woodford, L.M., Mallett, A.J., Harris, T., Bockenhauer, D., ...Mekahli, D. (2021). ADPEDKD: A GLOBAL ONLINE PLATFORM TO EXPLORE THE CHILDHOOD PHENOTYPE OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE.
Sit, J., Bockenhauer, D., Waters, A. (2021). ALPORT SYNDROME IN CHILDREN: A 15-YEAR SINGLE CENTRE EXPERIENCE.
Emma, F., Hoff, W.V., Hohenfellner, K., Topaloglu, R., Greco, M., Ariceta, G., ...Pape, L. (2021). An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.. Kidney International, doi:10.1016/j.kint.2021.06.019
Wong, E.K.S., Marchbank, K.J., Lomax-Browne, H., Pappworth, I.Y., Denton, H., Cooke, K., ...Wilson, V. (2021). C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes.. Clinical Journal of the American Society of Nephrology, 16 (11), 1639-1651. doi:10.2215/CJN.00320121
Burballa, C., Prikhodina, L., Lugani, F., Schlingmann, K., Ananin, P.V., Bockenhauer, D., ...Delprete, D. (2021). CLINICAL FEATURES AND MANAGEMENT OF DENT'S DISEASE TYPE 1 (DD1) IN EUROPE.
Kerklaan, J., Hanson, C., Gutman, T., Carter, S., Amir, N., Tong, A., ...Gipson, D. (2021). CLINICIAN PERSPECTIVES ON COMMUNICATION AND DECISION-MAKING IN PEDIATRIC CHRONIC KIDNEY DISEASE: AN INTERVIEW STUDY.
Sanderson, S.C., Lewis, C., Hill, M., Peter, M., McEntagart, M., Gale, D., ...Hunter, A. (2021). Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study. Genetics in Medicine, doi:10.1016/j.gim.2021.08.010
Schlingmann, K.P., Renigunta, A., Hoorn, E.J., Forst, A.-.L., Renigunta, V., Atanasov, V., ...Godefroid, N. (2021). Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.. J Am Soc Nephrol, doi:10.1681/ASN.2020111587
Schlingmann, K.P., Renigunta, A., Hoorn, E.J., Forst, A.-.L., Renigunta, V., Atanasov, V., ...Godefroid, N. (2021). Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.. J Am Soc Nephrol, doi:10.1681/ASN.2020111587
Konrad, M., Nijenhuis, T., Ariceta, G., Bertholet-Thomas, A., Calo, L.A., Capasso, G., ...Trepiccione, F. (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), 324-335. doi:10.1016/j.kint.2020.10.035
Trepiccione, F., Walsh, S.B., Ariceta, G., Boyer, O., Emma, F., Camilla, R., ...Levtchenko, E. (2021). Distal Renal Tubular Acidosis: ERKNet/ESPN Clinical Practice Points.. Nephrol Dial Transplant, doi:10.1093/ndt/gfab171
Forst, A.L., Reichold, M., Kleta, R., Warth, R. (2021). Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM. Frontiers in Physiology, 12 doi:10.3389/fphys.2021.715485
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, doi:10.1159/000516876
Christian, M.T., Webb, N.J.A., Mehta, S., Woolley, R.L., Afentou, N., Frew, E., ...Bockenhauer, D. (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, doi:10.1001/jamapediatrics.2021.5189
Islam, S., Tekman, M., Flanagan, S.E., Guay-Woodford, L., Hussain, K., Ellard, S., ...Iancu, D. (2021). Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular Genetics and Genomic Medicine, doi:10.1002/mgg3.1674
Islam, S., Tekman, M., Flanagan, S.E., Guay-Woodford, L., Hussain, K., Ellard, S., ...Iancu, D. (2021). Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular Genetics and Genomic Medicine, doi:10.1002/mgg3.1674
Viering, D., Schlingmann, K.-.P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M.M.Y., ...Vallet, M. (2021). Gitelman-like syndrome caused by pathogenic variants in mtDNA. Journal of the American Society of Nephrology : JASN,
Viering, D., Schlingmann, K.-.P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M.M.Y., ...Vallet, M. (2021). Gitelman-like syndrome caused by pathogenic variants in mtDNA. Journal of the American Society of Nephrology : JASN,
Downie, M.L., Gupta, S., Tekman, M.C., Cheshire, C., Arora, S., Licht, C., ...Al Attrach, I. (2021). Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney International Reports, doi:10.1016/j.ekir.2021.02.025
Downie, M.L., Gupta, S., Tekman, M.C., Cheshire, C., Arora, S., Licht, C., ...Al Attrach, I. (2021). Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney International Reports, doi:10.1016/j.ekir.2021.02.025
Downie, M.L., Gupta, S., Tekman, M.C., Cheshire, C., Arora, S., Licht, C., ...Al Attrach, I. (2021). Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney International Reports, doi:10.1016/j.ekir.2021.02.025
Stubbs, M.J., Coppo, P., Cheshire, C., Veyradier, A., Dufek, S., Levine, A.P., ...Hubank, M. (2021). Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura.. Haematologica, doi:10.3324/haematol.2020.274639
Stubbs, M.J., Coppo, P., Cheshire, C., Veyradier, A., Dufek, S., Levine, A.P., ...Hubank, M. (2021). Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura.. Haematologica, doi:10.3324/haematol.2020.274639
Downie, M.L., Garcia, L.S.C., Kleta, R., Bockenhauer, D. (2021). Inherited Tubulopathies of the Kidney: Insights from Genetics (vol 16, pg 620, 2021). CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 16 (7), 1100. doi:10.2215/CJN.05570421
Falcone, M.P., Pritchard-Jones, K., Brok, J., Mifsud, W., Williams, R., Nakata, K., ...Anderson, J. (2021). Long-term renal function in children with Wilms Tumour and constitutional WT1 pathogenic variant.. Pediatric Nephrology,
Christian, M., Webb, N., Mehta, S., Woolley, R., Brettell, E., Khan, A., ...Milford, D. (2021). LOW-DOSE PREDNISOLONE AT THE TIME OF AN URTI DOES NOT PREVENT RELAPSES IN STEROID SENSITIVE NEPHROTIC SYNDROME BUT MAY HAVE A HEALTH ECONOMIC BENEFIT: THE PREDNOS 2 TRIAL.
Boyer, O., Schaefer, F., Haffner, D., Bockenhauer, D., Holtta, T., Berody, S., ...Ozaltin, F. (2021). Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group (vol 17, pg 277, 2021). NATURE REVIEWS NEPHROLOGY, 17 (6), 434. doi:10.1038/s41581-021-00431-5
Boyer, O., Schaefer, F., Haffner, D., Bockenhauer, D., Hölttä, T., Bérody, S., ...Ozaltin, F. (2021). Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.. Nat Rev Nephrol, doi:10.1038/s41581-020-00384-1
Dufek-Kamperis, S., Kleta, R., Bockenhauer, D., Gale, D., Downie, M.L. (2021). Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology, doi:10.1007/s00467-020-04780-4
Dufek-Kamperis, S., Kleta, R., Bockenhauer, D., Gale, D., Downie, M.L. (2021). Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology, doi:10.1007/s00467-020-04780-4
Dufek-Kamperis, S., Kleta, R., Bockenhauer, D., Gale, D., Downie, M.L. (2021). Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology, doi:10.1007/s00467-020-04780-4
Wu, J.G.-.A., Tong, A., Evangelidis, N., Manera, K.E., Hanson, C.S., Baumgart, A., ...Eddy, A.A. (2021). Patient and caregiver perspectives on blood pressure in children with chronic kidney disease. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfab194
Veligratli, F., Alexandrou, D., Famuboni, A., Lopez-Garcia, S.C., Bockenhauer, D. (2021). PHARMACOLOGICAL APPROACHES IN PAEDIATRIC SIADH: TOLVAPTAN AND UREA.
Koenig, J., Karsay, R., Gerss, J., Schlingmann, K.P., Dahmer-Heath, M., Telgmann, A.-.K., ...Bockenhauer, D. (2021). PREDICTION OF RENAL PROGNOSIS IN NEPHRONOPHTHISIS.
Gibson, J., Fieldhouse, R., Chan, M.M.Y., Sadeghi-Alavijeh, O., Burnett, L., Izzi, V., ...Savige, J. (2021). Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. Journal of the American Society of Nephrology, ASN.2020071065. doi:10.1681/asn.2020071065
Mohamed, M., Tellez, J., Bergmann, C., Gale, D.P., Sayer, J.A., Olinger, E. (2021). Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. ANNALS OF HUMAN GENETICS, doi:10.1111/ahg.12454
Patel, V., Klootwijk, E., Whiting, G., Bockenhauer, D., Siew, K., Walsh, S., ...Issler, N. (2021). Quantification of FAM20A in human milk and identification of calcium metabolism proteins. Physiological Reports, 9 (24), doi:10.14814/phy2.15150
Patel, V., Klootwijk, E., Whiting, G., Bockenhauer, D., Siew, K., Walsh, S., ...Issler, N. (2021). Quantification of FAM20A in human milk and identification of calcium metabolism proteins. Physiological Reports, 9 (24), doi:10.14814/phy2.15150
Christian, M., Webb, N., Mehta, S., Nafsika, A., Woolley, R., Frew, E., ...Bockenhauer, D. (2021). SHORT COURSE DAILY LOW-DOSE PREDNISOLONE AT THE TIME OF UPPER RESPIRATORY TRACT INFECTION (URTI) IN NON-SELECTED CHILDREN WITH RELAPSING STEROID SENSITIVE NEPHROTIC SYNDROME DOES NOT PREVENT URTI-RELATED RELAPSE: THE PREDNOS 2 TRIAL.
Bockenhauer, D., Emma, F., Talhi, A., Papizh, S., Atmis, B., Homan, N., ...Fila, M. (2021). The European dRTA Registry: an initial data analysis.
Bassanese, G., Wlodkowski, T., Servais, A., Heidet, L., Roccatello, D., Emma, F., ...Capasso, G. (2021). The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results. Orphanet Journal of Rare Diseases, 16 (1), doi:10.1186/s13023-021-01872-8
Riedhammer, K.M., Schmaderer, C., Heemann, U., Bockenhauer, D. (2021). Tubulopathies. Der Nephrologe, doi:10.1007/s11560-021-00547-6
Bockenhauer, D., Kleta, R. (2021). Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling. Pediatric Nephrology, doi:10.1007/s00467-021-05098-5
Bockenhauer, D., Kleta, R. (2021). Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling. Pediatric Nephrology, doi:10.1007/s00467-021-05098-5

2020

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), 212. doi:10.3390/children7110212
Olinger, E., Hofmann, P., Kidd, K., Dufour, I., Belge, H., Schaeffer, C., ...Demoulin, N. (2020). Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney International, doi:10.1016/j.kint.2020.04.038
Giri, D., Bockenhauer, D., Deshpande, C., Achermann, J.C., Taylor, N.F., Rumsby, G., ...Ajzensztejn, M. (2020). Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.. Horm Res Paediatr, 93 (1), 66-71. doi:10.1159/000507577
Logeman, C., Guha, C., Howell, M., Hanson, C.S., Craig, J.C., Samuel, S., ...Furth, S. (2020). Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey. American Journal of Kidney Diseases, doi:10.1053/j.ajkd.2020.03.014
Gale, D., Mallett, A., Patel, C., Sneddon, T.P., Rehm, H.L., Sampson, M.G., Bockenhauer, D. (2020). Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology, doi:10.1038/s41581-020-0277-6
Gale, D., Mallett, A., Patel, C., Sneddon, T.P., Rehm, H.L., Sampson, M.G., Bockenhauer, D. (2020). Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology, doi:10.1038/s41581-020-0277-6
Ashton, E., Bockenhauer, D. (2020). Diagnosis of uncertain significance: can next generation sequencing replace the clinician?. Kidney International,
Hanson, C.S., Craig, J.C., Logeman, C., Sinha, A., Dart, A., Eddy, A.A., ...Yap, H.K. (2020). Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in Nephrology – Children and Adolescents (SONG-KIDS) consensus workshops.. Kidney International,
Kidd, K., Vylet'al, P., Schaeffer, C., Olinger, E., Živná, M., Hodaňová, K., ...Martin, L. (2020). Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney International Reports, doi:10.1016/j.ekir.2020.06.029
Lipska-Ziętkiewicz, B.S., Ozaltin, F., Hölttä, T., Bockenhauer, D., Bérody, S., Levtchenko, E., ...Schaefer, F. (2020). Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group. European Journal of Human Genetics, doi:10.1038/s41431-020-0642-8
Viering, D.H.H.M., Chan, M.M.Y., Hoogenboom, L., Iancu, D., de Baaij, J.H.F., Tullus, K., ...Bockenhauer, D. (2020). Genetics of renovascular hypertension in children. Journal of Hypertension, doi:10.1097/HJH.0000000000002491
Viering, D.H.H.M., Chan, M.M.Y., Hoogenboom, L., Iancu, D., de Baaij, J.H.F., Tullus, K., ...Bockenhauer, D. (2020). Genetics of renovascular hypertension in children. Journal of Hypertension, doi:10.1097/HJH.0000000000002491
Mccafferty, K., Caplin, B., Knight, S., Hockings, P., Wheeler, D., Fan, S.L., ...Papastefanou, V. (2020). HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol.. BMJ Open, 10 (9), e033923. doi:10.1136/bmjopen-2019-033923
Chromek, M., Jungner, Å., Rudolfson, N., Ley, D., Bockenhauer, D., Hagander, L. (2020). Hyponatraemia despite isotonic maintenance fluid therapy: a time series intervention study.. Arch Dis Child, doi:10.1136/archdischild-2019-318555
Sukcharoen, K., Sharp, S.A., Thomas, N.J., Kimmitt, R.A., Harrison, J., Bingham, C., ...Barratt, J. (2020). IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank. Kidney International Reports, doi:10.1016/j.ekir.2020.07.012
Downie, M.L., Lopez Garcia, S.C., Kleta, R., Bockenhauer, D. (2020). Inherited Tubulopathies of the Kidney: Insights from Genetics. Clin J Am Soc Nephrol, doi:10.2215/CJN.14481119
Downie, M.L., Lopez Garcia, S.C., Kleta, R., Bockenhauer, D. (2020). Inherited Tubulopathies of the Kidney: Insights from Genetics. Clin J Am Soc Nephrol, doi:10.2215/CJN.14481119
Levine, A.P., Chan, M.M.Y., Sadeghi-Alavijeh, O., Wong, E.K.S., Cook, H.T., Ashford, S., ...Harris, C.L. (2020). Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.. J Am Soc Nephrol, doi:10.1681/ASN.2019040433
Sharma, S., Ashton, E., Iancu, D., Arthus, M.-.F., Hayes, W., van't Hoff, W., ...Bockenhauer, D. (2020). Long-term outcome in inherited nephrogenic diabetes insipidus (vol 12, sfy027, 2019). CLINICAL KIDNEY JOURNAL, 13 (6), 1111. doi:10.1093/ckj/sfaa223
Brocklebank, V., Kumar, G., Howie, A.J., Chandar, J., Milford, D.V., Craze, J., ...Gale, D.P. (2020). Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy. Kidney International, doi:10.1016/j.kint.2020.01.045
Govers, L.P., Toka, H.R., Hariri, A., Walsh, S.B., Bockenhauer, D. (2020). Mitochondrial DNA mutations in renal disease: an overview. Pediatric Nephrology, doi:10.1007/s00467-019-04404-6
Levey, A.S., Eckardt, K.-.U., Dorman, N.M., Christiansen, S.L., Hoorn, E.J., Ingelfinger, J.R., ...Palevsky, P.M. (2020). Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference. Kidney International, doi:10.1016/j.kint.2020.02.010
Balogh, E., Chandler, J., Varga, M., Tahoun, M., Menyhárd, D.K., Schay, G., ...Szekeres, Á. (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, doi:10.1073/pnas.2002328117
Balogh, E., Chandler, J., Varga, M., Tahoun, M., Menyhárd, D.K., Schay, G., ...Szekeres, Á. (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, doi:10.1073/pnas.2002328117
Kari, J.A., Alhasan, K.A., Albanna, A.S., Safder, O.Y., Shalaby, M., Bockenhauer, D., El-Desoky, S.M. (2020). Rituximab versus cyclophosphamide as first steroid sparing agent in childhood frequently relapsing and steroid dependent nephrotic syndrome. Pediatric Nephrology,
Kari, J., Albanna, A., Alhassan, K., Safdar, O., Shalaby, M., Bockenhauer, D., Ei-Desoky, S. (2020). RITUXIMAB VESUS CYCLOPHOSPHAMIDE AS FIRST STEROID SPARING AGENT IN CHILDHOOD FREQUENTLY RELAPSING OR STEROID DEPENDENT NEPHROTIC SYNDROME.
Xie, J., Liu, L., Mladkova, N., Li, Y., Ren, H., Wang, W., ...Yu, X. (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.. Nat Commun, 11 (1), 1600. doi:10.1038/s41467-020-15383-w
Xie, J., Liu, L., Mladkova, N., Li, Y., Ren, H., Wang, W., ...Yu, X. (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.. Nat Commun, 11 (1), 1600. doi:10.1038/s41467-020-15383-w
Jdiaa, S.S., Walsh, S.B., Bockenhauer, D., Fakhredine, S.W., Koubar, S.H. (2020). The hypokalemia mystery: distinguishing Gitelman and Bartter syndromes from 'pseudo-Bartter syndrome'. Nephrol Dial Transplant, doi:10.1093/ndt/gfaa100
Kadkhodayi-Kholghi, N., Bhatt, J.S., Gor, J., McDermott, L.C., Gale, D.P., Perkins, S.J. (2020). The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy. Journal of Biological Chemistry, jbc.RA120.015132. doi:10.1074/jbc.ra120.015132
Standing, A.S., Hong, Y., Paisan-Ruiz, C., Omoyinmi, E., Medlar, A., Stanescu, H., ...Lachmann, H. (2020). TRAP1 chaperone protein mutations and autoinflammation.. Life Sci Alliance, 3 (2), doi:10.26508/lsa.201900376
Lopez-Garcia, S.C., Downie, M.L., Kim, J.S., Boyer, O., Walsh, S.B., Nijenhuis, T., ...Decramer, S. (2020). Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfaa243
Lopez-Garcia, S.C., Downie, M.L., Kim, J.S., Boyer, O., Walsh, S.B., Nijenhuis, T., ...Decramer, S. (2020). Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfaa243
Thaventhiran, J.E.D., Lango Allen, H., Burren, O.S., Rae, W., Greene, D., Staples, E., ...Rivers, E. (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, doi:10.1038/s41586-020-2265-1
Turro, E., Astle, W.J., Megy, K., Gräf, S., Greene, D., Shamardina, O., ...Thys, C. (2020). Whole-genome sequencing of patients with rare diseases in a national health system. Nature, doi:10.1038/s41586-020-2434-2
Turro, E., Astle, W.J., Megy, K., Gräf, S., Greene, D., Shamardina, O., ...Thys, C. (2020). Whole-genome sequencing of patients with rare diseases in a national health system. Nature, doi:10.1038/s41586-020-2434-2
Levey, A.S., Eckardt, K.U., Dorman, N.M., Christiansen, S.L., Hoorn, E.J., Ingelfinger, J.R., ...Palevsky, P.M. (2020). Номенклатура функции и болезней почек: отчет о результатах согласительной конференции инициативы по улучшению глобальных исходов заболеваний почек (KDIGO) = Nomenclature for kidney function and disease: Report of a kidney disease: Improving global outcomes (KDIGO) consensus conference. Nephrology and Dialysis, 22 (3), 271-292. doi:10.28996/2618-9801-2020-3-271-292

2019

Malakasioti, G., Alders, N., Lucchinni, G., Cheng, F., Bockenhauer, D. (2019). Acute kidney injury in an infant with severe combined immunodeficiency: Answers. Pediatric Nephrology, doi:10.1007/s00467-019-04303-w
Malakasioti, G., Alders, N., Lucchini, G., Cheng, I.L., Bockenhauer, D. (2019). Acute kidney injury in an infant with severe combined immunodeficiency: Questions. Pediatric Nephrology, doi:10.1007/s00467-019-04302-x
De Rechter, S., Bockenhauer, D., Guay-Woodford, L.M., Liu, I., Mallett, A.J., Soliman, N.A., ...Mekahli, D. (2019). ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney International Reports, 4 (9), 1271-1284. doi:10.1016/j.ekir.2019.05.015
Neave, L., Gale, D.P., Cheesman, S., Shah, R., Scully, M. (2019). Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy. British Journal of Haematology, doi:10.1111/bjh.15899
Besouw, M.T.P., Kleta, R., Bockenhauer, D. (2019). Bartter and Gitelman syndromes: questions of class. Pediatric Nephrology, doi:10.1007/s00467-019-04371-y
Besouw, M.T.P., Kleta, R., Bockenhauer, D. (2019). Bartter and Gitelman syndromes: questions of class. Pediatric Nephrology, doi:10.1007/s00467-019-04371-y
Gorman, K.M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., ...Schneider, A.L. (2019). Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.. Am J Hum Genet, doi:10.1016/j.ajhg.2019.03.005
Dudley, J., Winyard, P., Marlais, M., Cuthell, O., Harris, T., Chong, J., ...Turner, K. (2019). Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).. BMC Nephrol, 20 (1), 148. doi:10.1186/s12882-019-1285-2
Haffner, D., Emma, F., Eastwood, D., Biosse Duplan, M., Bacchetta, J., Schnabel, D., ...Levtchenko, E. (2019). Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nature Reviews Nephrology, doi:10.1038/s41581-019-0152-5
Bianic, F., Martin, M., Robin, L., Martre, C., Game, D., Bockenhauer, D. (2019). DISTAL RENAL TUBULAR ACIDOSIS, A RARE RENAL CONDITION THAT IS OFTEN UNDIAGNOSED: UK STUDY USING CPRD DATABASE.
Da Rocha Dourado, M., Rocha dos Santos, C.R., Dumitriu, S., Iancu, D., Albanyan, S., Kleta, R., ...Marques Mesquita, A.T. (2019). Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. European Journal of Medical Genetics, doi:10.1016/j.ejmg.2018.10.013
Savige, J., Ariani, F., Mari, F., Bruttini, M., Renieri, A., Gross, O., ...Gale, D.P. (2019). Expert consensus guidelines for the genetic diagnosis of Alport syndrome.. Pediatric Nephrology, doi:10.1007/s00467-018-3985-4
Lin, F.-.J., Yao, L., Hu, X.-.Q., Bian, F., Ji, G., Jiang, G.-.R., ...Ren, H.-.Q. (2019). First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.. Clinical Science, doi:10.1042/CS20180676
Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, L., ...Hussain, K. (2019). Functional Assessment of Variants Associated with Wolfram Syndrome. Human Molecular Genetics, doi:10.1093/hmg/ddz212
Rhodes, C.J., Batai, K., Bleda, M., Haimel, M., Southgate, L., Germain, M., ...Girerd, B. (2019). Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. The Lancet Respiratory Medicine, 7 (3), 227-238. doi:10.1016/S2213-2600(18)30409-0
Dufek, S., Cheshire, C., Levine, A.P., Trompeter, R.S., Issler, N., Stubbs, M., ...Patel, V. (2019). Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology : JASN, doi:10.1681/ASN.2018101054
Dufek, S., Cheshire, C., Levine, A.P., Trompeter, R.S., Issler, N., Stubbs, M., ...Patel, V. (2019). Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology : JASN, doi:10.1681/ASN.2018101054
Dufek, S., Cheshire, C., Levine, A.P., Trompeter, R.S., Issler, N., Stubbs, M., ...Patel, V. (2019). Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology : JASN, doi:10.1681/ASN.2018101054
Wei, W., Tuna, S., Keogh, M.J., Smith, K.R., Aitman, T.J., Beales, P.L., ...Black, G.C. (2019). Germline selection shapes human mitochondrial DNA diversity.. Science, 364 (6442), doi:10.1126/science.aau6520
Wei, W., Tuna, S., Keogh, M.J., Smith, K.R., Aitman, T.J., Beales, P.L., ...Black, G.C. (2019). Germline selection shapes human mitochondrial DNA diversity.. Science, 364 (6442), doi:10.1126/science.aau6520
Janchevska, A., Tasic, V., Jordanova, O., Gucev, Z., Ashton, E., Bockenhauer, D. (2019). GITELMAN SYNDROME - REPORT OF THE FIRST PEDIATRIC PATIENT FROM MACEDONIA.
Bichet, D.G., Granier, S., Bockenhauer, D. (2019). GNAS: a new nephrogenic cause of inappropriate antidiuresis.. Journal of the American Society of Nephrology,
Hureaux, M., Ashton, E., Dahan, K., Houillier, P., Blanchard, A., Cormier, C., ...Hilbert, P. (2019). High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.. Kidney Int, doi:10.1016/j.kint.2019.08.027
Hureaux, M., Ashton, E., Dahan, K., Houillier, P., Blanchard, A., Cormier, C., ...Hilbert, P. (2019). High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.. Kidney Int, doi:10.1016/j.kint.2019.08.027
Adalat, S., Hayes, W.N., Bryant, W.A., Booth, J., Woolf, A.S., Kleta, R., ...Ellard, S. (2019). HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney International Reports, doi:10.1016/j.ekir.2019.05.019
Adalat, S., Hayes, W.N., Bryant, W.A., Booth, J., Woolf, A.S., Kleta, R., ...Ellard, S. (2019). HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney International Reports, doi:10.1016/j.ekir.2019.05.019
Adalat, S., Hayes, W., Bryant, W., Booth, J., Woolf, A., Kleta, R., Bockenhauer, D. (2019). HNF1B MUTATIONS ARE ASSOCIATED WITH AN EVOLVING GITELMAN-LIKE TUBULOPATHY.
Hanson, C.S., Gutman, T., Craig, J.C., Bernays, S., Raman, G., Zhang, Y., ...Manera, K.E. (2019). Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study. American Journal of Kidney Diseases, doi:10.1053/j.ajkd.2018.12.040
Gimpel, C., Bergmann, C., Bockenhauer, D., Breysem, L., Cadnapaphornchai, M.A., Cetiner, M., ...Harris, T. (2019). International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nature Reviews Nephrology, doi:10.1038/s41581-019-0155-2
Marchesin, V., Pérez-Martí, A., Le Meur, G., Pichler, R., Grand, K., Klootwijk, E.D., ...Simons, M. (2019). Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.. Cell Rep, 29 (13), 4407-4421.e5. doi:10.1016/j.celrep.2019.11.066
Tahoun, M., Chandler, J.C., Ashton, E., Haston, S., Hannan, A., Kim, J.S., ...Lin, M.-.H. (2019). 'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'.. J Clin Endocrinol Metab, doi:10.1210/clinem/dgz216
Oz-Levi, D., Olender, T., Bar-Joseph, I., Zhu, Y., Marek-Yagel, D., Barozzi, I., ...Han, Y. (2019). Noncoding deletions reveal a gene that is critical for intestinal function. Nature, doi:10.1038/s41586-019-1312-2
Hayes, W., Longley, C., Scanlon, N., Bryant, W., Stojanovic, J., Kessaris, N., ...Marks, S.D. (2019). Plasma electrolyte imbalance in pediatric kidney transplant recipients. Pediatric Transplantation, doi:10.1111/petr.13411
Downie, M.L., Bockenhauer, D. (2019). Swimming with the fishes: delineating tubular transport pathways for magnesium.. Pflugers Arch, doi:10.1007/s00424-019-02286-z
Schaefer, F., Mekahli, D., Emma, F., Gilbert, R.D., Bockenhauer, D., Cadnapaphornchai, M.A., ...Shoaf, S.E. (2019). 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, doi:10.1007/s00431-019-03384-x
Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., ...Levtchenko, E. (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfy409
Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., ...Levtchenko, E. (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfy409
Annear, N.M.P., Appleton, R.E., Bassi, Z., Bhatt, R., Bolton, P.F., Crawford, P., ...Finlay, E. (2019). Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in Neurology, 10 doi:10.3389/fneur.2019.01116
French, C.E., Delon, I., Dolling, H., Sanchis-Juan, A., Shamardina, O., Mégy, K., ...Branco, R.G. (2019). Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.. Intensive Care Med, doi:10.1007/s00134-019-05552-x

2018

Biebermann, H., Kleinau, G., Schnabel, D., Bockenhauer, D., Wilson, L.C., Tully, I., ...Paisdzior, S. (2018). A new multi-system disorder caused by the Gαs mutation p.F376V. The Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2018-01250
Rubio-Cabezas, O., Flanagan, S., Stanescu, H., Kleta, R., Hussain, K., Bockenhauer, D., Ellard, S. (2018). A PMM2 promoter mutation causing congenital polycystic kidney and hyperinsulinemic hypoglycemia.
Gast, C., Marinaki, A., Arenas-Hernandez, M., Campbell, S., Seaby, E.G., Pengelly, R.J., ...Hodaňová, K. (2018). Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC nephrology, 19 (1), 301. doi:10.1186/s12882-018-1107-y
Gutman, T., Hanson, C., Bernays, S., Craig, J., Sinha, A., Dart, A., ...Yap, H. (2018). CHILD AND PARENTAL PERSPECTIVES ON COMMUNICATION AND DECISION-MAKING IN PAEDIATRIC CHRONIC KIDNEY DISEASE: A FOCUS GROUP STUDY.
Gutman, T., Hanson, C., Bernays, S., Craig, J., Sinha, A., Dart, A., ...Yap, H.-.K. (2018). Child and parental perspectives on communication and decision-making in pediatric chronic kidney disease: a focus group study. American Journal of Kidney Diseases, doi:10.1053/j.ajkd.2018.05.005
Whitworth, J., Smith, P.S., Martin, J.E., West, H., Luchetti, A., Rodger, F., ...Stirrups, K. (2018). Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. American Journal of Human Genetics, doi:10.1016/j.ajhg.2018.04.013
Stiles, C.E., 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, doi:10.1530/EDM-17-0120
Ito, Y., Carss, K.J., Duarte, S.T., Hartley, T., Keren, B., Kurian, M.A., ...Nava, C. (2018). De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics, doi:10.1016/j.ajhg.2018.06.001
Schlingmann, K.P., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., ...Imminger, K. (2018). Germline de-novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures and intellectual disability. The American Journal of Human Genetics, doi:10.1016/j.ajhg.2018.10.004
Schlingmann, K.P., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., ...Imminger, K. (2018). Germline de-novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures and intellectual disability. The American Journal of Human Genetics, doi:10.1016/j.ajhg.2018.10.004
Reichold, M., Klootwijk, E.D., Reinders, J., Otto, E.A., Milani, M., Broeker, C., ...Zhou, W. (2018). Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017111179
Reichold, M., Klootwijk, E.D., Reinders, J., Otto, E.A., Milani, M., Broeker, C., ...Zhou, W. (2018). Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017111179
Reichold, M., Klootwijk, E.D., Reinders, J., Otto, E.A., Milani, M., Broeker, C., ...Zhou, W. (2018). Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017111179
Roy, S.M., Newnham, A., Yadav, P., Tyerman, K., Bockenhauer, D., Mushtaq, T., Prajapati, H. (2018). HIGH PROTEIN FOR LOW SALT.
Tong, A., Manns, B., Wang, A.Y.M., Hemmelgarn, B., Wheeler, D.C., Gill, J., ...Harris, T. (2018). Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop. Kidney International, doi:10.1016/j.kint.2018.08.018
Garcia, S.C.L., Emma, F., Walsh, S., Fila, M., Hooman, N., Marcin, Z., ...Levtchenko, E. (2018). LONG-TERM OUTCOME AND TREATMENT PRACTICES IN DISTAL RENALTUBULAR ACIDOSIS.
Sharma, S., Ashton, E., Iancu, D., Arthus, M.-.F., Hayes, W., Van't Hoff, W., ...Bockenhauer, D. (2018). Long-term outcome in inherited Nephrogenic Diabetes Insipidus. CKJ: Clinical Kidney Journal, doi:10.1093/ckj/sfy027
Sharma, S., Ashton, E., Iancu, D., Arthus, M.-.F., Hayes, W., Van't Hoff, W., ...Bockenhauer, D. (2018). Long-term outcome in inherited Nephrogenic Diabetes Insipidus. CKJ: Clinical Kidney Journal, doi:10.1093/ckj/sfy027
Dufek, S., Holtta, T., Trautmann, A., Ylinen, E., Alpay, H., Ariceta, G., ...Bayazit, A. (2018). Management of children with congenital nephrotic syndrome: challenging treatment paradigms. Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfy165
Lambe, T., Frew, E., Ives, N.J., Woolley, R.L., Cummins, C., Brettell, E.A., ...Williams, H.M. (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, 1-15. doi:10.1007/s40273-017-0600-7
Tian, P., Kimber, S.J., Gale, D.P., Lennon, R. (2018). Modelling Alport syndrome using patient-derived kidney organoids.
Gale, D.P., Kleta, R. (2018). MUC1 Makes Me Miserable.. J Am Soc Nephrol, doi:10.1681/ASN.2018070742
Gale, D.P., Kleta, R. (2018). MUC1 Makes Me Miserable.. J Am Soc Nephrol, doi:10.1681/ASN.2018070742
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., ...Rao, J. (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.. J Clin Invest, doi:10.1172/JCI98688
Katugampola, H., Guemes, M., Aftab, S., Malhotra, N., Gilbert, C., Morgan, K., ...Shah, P. (2018). Nifedipine Therapy in Hyperinsulinaemic Hypoglycaemia Due to Mutations in the PMM2 Gene Improves Fast Tolerance, Stabilises Blood Glucose Profile, and Enables Rationalisation of Treatments for Glycaemic Control and Hypertension: the First Reported Trial in 3 Patients in a Tertiary Centre.
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 (1), doi:10.1186/s12859-018-2030-8
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 (1), doi:10.1186/s12859-018-2030-8
Besouw, M.T.P., Bockenhauer, D. (2018). Potassium Metabolism. In Nephrology and Fluid/Electrolyte Physiology: Neonatology Questions and Controversies. (pp. 31-46). .
Saito, H., Noda, H., Philippe, G., Bockenhauer, D., Loke, K.Y., Hiort, O., ...Dillon, M. (2018). Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia. Journal of Clinical Endocrinology and Metabolism, doi:10.1210/jc.2018-00332
Martinez E, G., Gamero M, A., Cabezas O, R., Ellard, S., Kleta, R., Bockenhauer, D. (2018). Renal cystic disease and hyperinsulinemic hypoglycemia: A clinical association of genetic origin.
Kleta, R., Bockenhauer, D. (2018). Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial?. Journal of the American Society of Nephrology, doi:10.1681/ASN.2017060600
Kleta, R., Bockenhauer, D. (2018). Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial?. Journal of the American Society of Nephrology, doi:10.1681/ASN.2017060600
Ashton, E., Legrand, A., Benoit, V., Roncelin, I., Venisse, A., Zennaro, M.C., ...Walsh, S.B. (2018). Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney International, doi:10.1016/j.kint.2017.10.016
Ashton, E., Legrand, A., Benoit, V., Roncelin, I., Venisse, A., Zennaro, M.C., ...Walsh, S.B. (2018). Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney International, doi:10.1016/j.kint.2017.10.016
Osborne, A., Breno, M., Ghiringhelli Borsa, N., Bu, F., Frémeaux-Bacchi, V., Gale, D., ...Pinto, S. (2018). Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. Journal of Immunology, doi:10.4049/jimmunol.1701695
Farmery, J.H.R., Smith, M.L., Lynch, A.G., Huissoon, A., Furnell, A., Mead, A., ...Greenhalgh, A. (2018). Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports, 8 doi:10.1038/s41598-018-31524-0
Amin, S., Kingswood, J.C., Bolton, P.F., Elmslie, F., Gale, D.P., Harland, C., ...Smeaton, M. (2018). The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.. QJM, doi:10.1093/qjmed/hcy215
Outtandy, P., Russell, C., Kleta, R., Bockenhauer, D. (2018). Zebrafish as a model for kidney function and disease.. Pediatric nephrology (Berlin, Germany), doi:10.1007/s00467-018-3921-7
Outtandy, P., Russell, C., Kleta, R., Bockenhauer, D. (2018). Zebrafish as a model for kidney function and disease.. Pediatric nephrology (Berlin, Germany), doi:10.1007/s00467-018-3921-7

2017

Vivante, A., Mann, N., Yonath, H., Weiss, A.-.C., Getwan, M., Kaminski, M.M., ...Shril, S. (2017). A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2016060694
Voskarides, K., Stefanou, C., Pieri, M., Demosthenous, P., Felekkis, K., Arsali, M., ...Daphnis, E. (2017). A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.. PLoS One, 12 (3), e0174274. doi:10.1371/journal.pone.0174274
Cabezas, O.R.R., Flanagan, S., Stanescu, H., Kleta, R., Bockenhauer, D., Ellard, S., Hussain, K. (2017). A NOVEL SYNDROME OF HYPERINSULINAEMIC HYPOGLYCEMIA AND POLYCYSTIC KIDNEYS DUE TO A PROMOTOR MUTATION IN PMM2.
Enerbäck, S., Nilsson, D., Edwards, N., Heglind, M., Alkanderi, S., Ashton, E., ...Van't Hoff, W. (2017). Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017080840
Enerbäck, S., Nilsson, D., Edwards, N., Heglind, M., Alkanderi, S., Ashton, E., ...Van't Hoff, W. (2017). Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017080840
Le Quesne Stabej, P., James, C., Ocaka, L., Tekman, M., Grunewald, S., Clement, E., ...Calder, A. (2017). An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.. Orphanet Journal of Rare Diseases, 12 (1), 24. doi:10.1186/s13023-017-0582-8
Standing, A.S.I., Malinova, D., Hong, Y., Record, J., Moulding, D., Blundell, M.P., ...Gilmour, K.C. (2017). Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.. J Exp Med, 214 59-71. doi:10.1084/jem.20161228
Ayme, 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. Kidney International, 92 (6), 1558. doi:10.1016/j.kint.2017.10.004
Arno, G., Carss, K.J., Hull, S., Zihni, C., Robson, A.G., Fiorentino, A., ...Cheetham, M.E. (2017). Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.. Am J Hum Genet, 100 (2), 334-342. doi:10.1016/j.ajhg.2016.12.014
Chan, M.M.Y., Barnicoat, A., Mumtaz, F., Aitchison, M., Side, L., Brittain, H., ...Gale, D.P. (2017). Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: A case report. BMC Medical Genetics, 18 (1), doi:10.1186/s12881-017-0436-1
Walsh, P.R., Tse, Y., Ashton, E., Iancu, D., Jenkins, L., Bienias, M., ...Bockenhauer, D. (2017). Clinical and diagnostic features of Bartter and Gitelman syndromes. Clinical Kidney Journal, doi:10.1093/ckj/sfx118
Walsh, P.R., Tse, Y., Ashton, E., Iancu, D., Jenkins, L., Bienias, M., ...Bockenhauer, D. (2017). Clinical and diagnostic features of Bartter and Gitelman syndromes. Clinical Kidney Journal, doi:10.1093/ckj/sfx118
Bockenhauer, D., Besouw, M., Bienias, M., Walsh, P., Kleta, R., Van't, H.o.f.f., ...Ashton, E. (2017). Clinical and molecular aspects of distal renal tubular acidosis in children. Pediatric Nephrology, doi:10.1007/s00467-016-3573-4
Besouw, M.T.P., Bienias, M., Walsh, P., Kleta, R., Van't Hoff, W.G., Ashton, E., ...Bockenhauer, D. (2017). Clinical and molecular aspects of distal renal tubular acidosis in children.. Pediatric Nephrology, doi:10.1007/s00467-016-3573-4
Wheeler, D.C., Bockenhauer, D., Day, S., Devuyst, O., Guay-Woodford, L.M., Ingelfinger, J.R., ...Roberts, J. (2017). Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, doi:10.1016/j.kint.2017.06.018
Carss, K.J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., ...Malka, S. (2017). Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.. Am J Hum Genet, 100 (1), 75-90. doi:10.1016/j.ajhg.2016.12.003
Scully, M., Cataland, S., Coppo, P., de la Rubia, J., Friedman, K.D., Kremer Hovinga, J., ...Sadler, E. (2017). Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies. Journal of Thrombosis and Haemostasis, 15 (2), 312-322. doi:10.1111/jth.13571
Bockenhauer, D., Bichet, D.G. (2017). Diabetes insipidus. In Pediatric Kidney Disease: Second Edition. (pp. 993-1012). .
Issler, N., Dufek, S., Kleta, R., Bockenhauer, D., Smeulders, N., Van't Hoff, W. (2017). Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.. BMC nephrology, 18 (1), 136. doi:10.1186/s12882-017-0505-x
Issler, N., Dufek, S., Kleta, R., Bockenhauer, D., Smeulders, N., Van't Hoff, W. (2017). Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.. BMC nephrology, 18 (1), 136. doi:10.1186/s12882-017-0505-x
Besouw, M.T.P., Bienias, M., Walsh, P., Kleta, R., van't Hoff, W.G., Ashton, E., ...Bockenhauer, D. (2017). Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children. PEDIATRIC NEPHROLOGY, 32 (6), 1095. doi:10.1007/s00467-017-3631-6
Sawan, Z.A., El-Desoky, S.M., Shalaby, M.A., Bockenhauer, D., Kari, J.A. (2017). Facial swelling in a child on chronic hemodialysis: Answers.. Pediatric nephrology (Berlin, Germany), 32 (8), 1351-1353. doi:10.1007/s00467-016-3525-z
Sawan, Z.A., El-Desoky, S.M., Shalaby, M.A., Bockenhauer, D., Kari, J.A. (2017). Facial swelling in a child on chronic hemodialysis: Questions.. Pediatric nephrology (Berlin, Germany), 32 (8), 1349-1350. doi:10.1007/s00467-016-3523-1
Walsh, S.B., Unwin, R., Kleta, R., Van't Hoff, W., Bass, P., Hussain, K., ...Bockenhauer, D. (2017). Fainting Fanconi syndrome clarified by proxy: a case report.. BMC nephrology, 18 (1), 230. doi:10.1186/s12882-017-0649-8
Walsh, S.B., Unwin, R., Kleta, R., Van't Hoff, W., Bass, P., Hussain, K., ...Bockenhauer, D. (2017). Fainting Fanconi syndrome clarified by proxy: a case report.. BMC nephrology, 18 (1), 230. doi:10.1186/s12882-017-0649-8
Gale, D.P., Papazachariou, L., Papagregoriou, G., Hadjipanag, D., Demosthenous, P., Voskarides, K., ...Xydakis, D. (2017). Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clinical Genetics, doi:10.1111/cge.13077
Gale, D.P., Molyneux, K., Wimbury, D., Higgins, P., Levine, A.P., Caplin, B., ...Stanescu, H. (2017). Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.. J Am Soc Nephrol, doi:10.1681/ASN.2016091043
Gale, D.P., Molyneux, K., Wimbury, D., Higgins, P., Levine, A.P., Caplin, B., ...Stanescu, H. (2017). Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.. J Am Soc Nephrol, doi:10.1681/ASN.2016091043
Viering, D.H.H.M., de Baaij, J.H.F., Walsh, S.B., Kleta, R., Bockenhauer, D. (2017). Genetic causes of hypomagnesemia, a clinical overview. Pediatric Nephrology, 32 (7), 1123-1135. doi:10.1007/s00467-016-3416-3
Viering, D.H.H.M., de Baaij, J.H.F., Walsh, S.B., Kleta, R., Bockenhauer, D. (2017). Genetic causes of hypomagnesemia, a clinical overview.. Pediatric Nephrology, 32 (7), 1123-1135. doi:10.1007/s00467-016-3416-3
Sekula, P., Li, Y., Stanescu, H.C., Wuttke, M., Ekici, A.B., Bockenhauer, D., ...Brenchley, P. (2017). Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 32 (2), 325-332. doi:10.1093/ndt/gfw001
Sekula, P., Li, Y., Stanescu, H.C., Wuttke, M., Ekici, A.B., Bockenhauer, D., ...Brenchley, P. (2017). Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 32 (2), 325-332. doi:10.1093/ndt/gfw001
Gupta, S., Köttgen, A., Hoxha, E., Brenchley, P., Bockenhauer, D., Stanescu, H.C., Kleta, R. (2017). Genetics of membranous nephropathy.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, doi:10.1093/ndt/gfx296
Gupta, S., Köttgen, A., Hoxha, E., Brenchley, P., Bockenhauer, D., Stanescu, H.C., Kleta, R. (2017). Genetics of membranous nephropathy.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, doi:10.1093/ndt/gfx296
Tekman, M., Medlar, A., Mozere, M., Kleta, R., Stanescu, H. (2017). HaploForge: A Comprehensive Pedigree Drawing and Haplotype Visualisation Web Application.. Bioinformatics, doi:10.1093/bioinformatics/btx510
Hayes, W.N., Boyle, S., Caroll, A., Bockenhauer, D., Marks, S.D. (2017). HYPOMAGNESAEMIA AND INCREASED RISK OF NEW ONSET DIABETES AFTER TRANSPLANTATION IN PAEDIATRIC RENAL TRANSPLANT RECIPIENTS..
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, doi:10.1007/s00467-016-3571-6
Hayes, W., Boyle, S., Carroll, A., Bockenhauer, D., Marks, S.D. (2017). Hypomagnesemia and increased risk of new-onset diabetes mellitus after transplantation in pediatric renal transplant recipients (vol 32, pg 879, 2017). PEDIATRIC NEPHROLOGY, 32 (5), 903. doi:10.1007/s00467-017-3609-4
Bockenhauer, D. (2017). Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics?. Pediatric Nephrology, doi:10.1007/s00467-017-3578-7
Hanson, C.S., Raman, G., Zhang, Y., Ralph, A.F., Ju, A., James, L.J., ...Dionne, J. (2017). IDENTIFYING IMPORTANT OUTCOMES FOR CHILDREN WITH CHRONIC KIDNEY DISEASE AND THEIR CAREGIVERS: FOCUS GROUPS WITH NOMINAL GROUP TECHNIQUE.
Falcone, M.P., Brok, J., Mifsud, W., Williams, R., Nakata, K., Tugnait, S., ...Chowdhury, T. (2017). Long-Term Renal Function in Children with Wilms Tumour and Constitutional WT1 Mutation.
Besouw, M., Beales, P., Bockenhauer, D., Boukhibar, L., Gagunashvili, A., Rees, L., ...Marks, S. (2017). MAKING A RAPID GENETIC DIAGNOSIS IN A NEONATE WITH ANURIC RENAL FAILURE.
Gupta, S., Connolly, J., Pepper, R.J., Walsh, S.B., Yaqoob, M.M., Kleta, R., Ashman, N. (2017). Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London.. BMC nephrology, 18 (1), 201. doi:10.1186/s12882-017-0615-5
Siitonen, M., Börjesson-Hanson, A., Pöyhönen, M., Ora, A., Pasanen, P., Bras, J., ...Stanescu, H. (2017). Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.. Brain, doi:10.1093/brain/awx062
Connor, T.M., Hoer, S., Mallett, A., Gale, D.P., Gomez-Duran, A., Posse, V., ...Frezza, C. (2017). Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.. PLoS Genet, 13 (3), e1006620. doi:10.1371/journal.pgen.1006620
Bockenhauer, D., Bichet, D.G. (2017). Nephrogenic diabetes insipidus. CURRENT OPINION IN PEDIATRICS, 29 (2), 199-205. doi:10.1097/MOP.0000000000000473
Bockenhauer, D., Kleta, R. (2017). Of dogs and men. EUROPEAN JOURNAL OF HUMAN GENETICS, 25 (2), doi:10.1038/ejhg.2016.161
Bockenhauer, D., Kleta, R. (2017). Of dogs and men.. EUROPEAN JOURNAL OF HUMAN GENETICS, 25 (2), doi:10.1038/ejhg.2016.161
Hadinnapola, C., Bleda, M., Haimel, M., Screaton, N., Swift, A., Dorfmuller, P., ...Martin, J. (2017). Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. CIRCULATION, 136 (21), 2022-+. doi:10.1161/CIRCULATIONAHA.117.028351
Falik Zaccai, T.C., Savitzki, D., Zivony-Elboum, Y., Vilboux, T., Fitts, E.C., Shoval, Y., ...Gross, B. (2017). Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.. Brain, 140 (2), 370-386. doi:10.1093/brain/aww295
Cabezas, O.R., Flanagan, S., Stanescu, H., Kleta, R., Hussain, K., Ellard, S., Bockenhauer, D. (2017). POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2.
Cabezas, O.R., Flanagan, S.E., Stanescu, H., García-Martínez, E., Caswell, R., Lango-Allen, H., ...Brandli, A. (2017). Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.. Journal of the American Society of Nephrology, doi:10.1681/ASN.2016121312
Cabezas, O.R., Flanagan, S., Stanescu, H., Garcia-Martinez, E., Caswell, R., Lango-Allen, H., ...Brandli, A. (2017). Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2. Journal of the American Society of Nephrology, doi:10.1681/ASN.2016121312
Kesselheim, A., Ashton, E., Bockenhauer, D. (2017). Potential and pitfalls in the genetic diagnosis of kidney diseases.. Clinical kidney journal, 10 (5), 581-585. doi:10.1093/ckj/sfx075
Chong, L.S.H., Sautenet, B., Tong, A., Hanson, C.S., Samuel, S., Zappitelli, M., ...Groothoff, J. (2017). Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.. The Journal of pediatrics, 186 110-117.e11. doi:10.1016/j.jpeds.2017.03.034
Bockenhauer, D., Kleta, R. (2017). Renal fanconi syndromes and other proximal tubular disorders. In Pediatric Kidney Disease: Second Edition. (pp. 883-904). .
Alexander, R.T., Bockenhauer, D. (2017). Renal tubular acidosis. In Pediatric Kidney Disease: Second Edition. (pp. 973-992). .
Forsythe, E., Sparks, K., Best, S., Borrows, S., Hoskins, B., Sabir, A., ...Goldsmith, D. (2017). Risk Factors for Severe Renal Disease in Barden-Biedl Syndrome. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 28 (3), 963-970. doi:10.1681/ASN.2015091029
Khan, K.N., El-Asrag, M.E., Ku, C.A., Holder, G.E., McKibbin, M., Arno, G., ...Bagheri, S. (2017). Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy. Investigative Ophthalmology and Visual Science, 58 (7), 2906-2914. doi:10.1167/iovs.16-20608
Eastwood, D.M., van't hoff, W., Bockenhauer, D., Horn, A. (2017). The orthopaedic management of lower limb deformity in hypophosphataemic rickets. Journal of Children's Orthopaedics, doi:10.1302/1863-2548.11.170003
Torres, V.E., Chapman, A.B., Devuyst, O., Gansevoort, R.T., Perrone, R.D., Koch, G., ...Czerwiec, F.S. (2017). Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. NEW ENGLAND JOURNAL OF MEDICINE, 377 (20), 1930-1942. doi:10.1056/NEJMoa1710030
Riachi, M., Kristiansen, M., Yilmaz, S., Aycan, Z., Kurnaz, E., Rendtorff, N.D., ...Bitner-Glindzicz, M. (2017). UNDERSTANDING WOLFRAM SYNDROME: GENETICS, FUNCTIONALITY & ALLELIC VARIATIONS.
Bockenhauer, D., Dufek, S., Booth, C., Carroll, A., van’t Hoff, W., Kleta, R. (2017). Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant. Acta Paediatrica,
Dufek, S., Booth, C., Carroll, A., Van't Hoff, W., Kleta, R., Bockenhauer, D. (2017). Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant.. Acta Paediatrica,
Deschênes, G., Vivarelli, M., Peruzzi, L., Alpay, H., Alvaro Madrid, A., Andersen, R., ...Bockenhauer, D. (2017). Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries. European Journal of Pediatrics, 176 (5), 647-654. doi:10.1007/s00431-017-2891-2
Warejko, J.K., Tan, W., Daga, A., Schapiro, D., Lawson, J.A., Shril, S., ...Hermle, T. (2017). Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.. Clinical journal of the American Society of Nephrology : CJASN, doi:10.2215/cjn.04120417

2016

Gale, D.P., Oygar, D.D., Lin, F., Oygar, P.D., Khan, N., Connor, T.M.F., ...Neild, G.H. (2016). A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. NEPHROLOGY DIALYSIS TRANSPLANTATION, 31 (11), 1908-1914. doi:10.1093/ndt/gfw051
Viseras, I.F., Giri, D., Bockenhauer, D., Deshpande, C., Achermann, J., Taylor, N., ...Ajzensztejn, M. (2016). A Unique Case of Dual Opposing Pathologies.
Gross, O., Kashtan, C.E., Rheault, M.N., Flinter, F., Savige, J., Miner, J.H., ...Savva, I. (2016). Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association,
Swift, O., Vilar, E., Rahman, B., Side, L., Gale, D.P. (2016). Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.. Genetic testing and molecular biomarkers, doi:10.1089/gtmb.2016.0050
Goodship, T.H., Cook, H.T., Fakhouri, F., Fervenza, F.C., Frémeaux-Bacchi, V., Kavanagh, D., ...Rodríguez de Córdoba, S. (2016). Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.. Kidney Int, 91 (3), 539-551. doi:10.1016/j.kint.2016.10.005
Rowczenio, D.M., Iancu, D.S., Trojer, H., Gilbertson, J.A., Gillmore, J.D., Wechalekar, A.D., ...Lane, T. (2016). Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.. Rheumatology (Oxford, England),
Schlingmann, K.P., Ruminska, J., Kaufmann, M., Dursun, I., Patti, M., Kranz, B., ...Bulus, D. (2016). Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 27 (2), 604-614. doi:10.1681/ASN.2014101025
Clissold, R.L., Shaw-Smith, C., Turnpenny, P., Bunce, B., Bockenhauer, D., Kerecuk, L., ...Ellard, S. (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.. Kidney international, 90 (1), 203-211.
Lin, F.J., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., Jiang, G.R. (2016). Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Experimental and Therapeutic Medicine, doi:10.3892/etm.2016.3035
Abdelhadi, O., Iancu, D., Stanescu, H., Kleta, R., Bockenhauer, D. (2016). EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.. Rare diseases (Austin, Tex.), 4 (1), e1195043. doi:10.1080/21675511.2016.1195043
Abdelhadi, O., Iancu, D., Stanescu, H., Kleta, R., Bockenhauer, D. (2016). EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.. Rare diseases (Austin, Tex.), 4 (1), e1195043. doi:10.1080/21675511.2016.1195043
Pêgo, S.P.B., Coletta, R.D., Dumitriu, S., Iancu, D., Albanyan, S., Kleta, R., ...Martelli-Júnior, H. (2016). Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 123 (2), 229-234.e2. doi:10.1016/j.oooo.2016.09.226
Dufek, S., Issler, N., Kleta, R., Bockenhauer, D., Smeulders, N., Van'T Hoff, W. (2016). Epidemiological aspects of paediatric stone disease.
Dufek, S., Issler, N., Kleta, R., Bockenhauer, D., Smeulders, N., van't Hoff, W. (2016). EPIDEMIOLOGY OF PAEDIATRIC UROLITHIASIS IN A LARGE COHORT IN UK.
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), 521-526. doi:10.1002/mgg3.227
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), 521-526. doi:10.1002/mgg3.227
Bichet, D.G., Bockenhauer, D. (2016). Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 30 (2), 263-276. doi:10.1016/j.beem.2016.02.010
Sekula, P., Li, Y., Stanescu, H.C., Wuttke, M., Ekici, A.B., Bockenhauer, D., ...Brenchley, P. (2016). Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.. Nephrol Dial Transplant, 32 (2), 325-332. doi:10.1093/ndt/gfw001
Oliveira, B., Kleta, R., Bockenhauer, D., Walsh, S.B. (2016). Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis.. American journal of physiology. Renal physiology, ajprenal.00211.2016. doi:10.1152/ajprenal.00211.2016
Oliveira, B., Kleta, R., Bockenhauer, D., Walsh, S.B. (2016). Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.. American journal of physiology. Renal physiology, ajprenal.00211.2016. doi:10.1152/ajprenal.00211.2016
Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L.A., Cosyns, E., Devuyst, O., ...Konrad, M. (2016). Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.. Kidney Int, 91 (1), 24-33. doi:10.1016/j.kint.2016.09.046
Improda, N., Shah, P., Güemes, M., Gilbert, C., Morgan, K., Sebire, N., ...Hussain, K. (2016). Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.. Hormone research in paediatrics,
Zaniew, M., Bökenkamp, A., Kołbuc, M., La Scola, C., Baronio, F., Niemirska, A., ...Miklaszewska, M. (2016). Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association,
Ai, Z., Li, M., Liu, W., Foo, J.N., Mansouri, O., Yin, P., ...Feng, S. (2016). Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Science Translational Medicine, 8 (345), doi:10.1126/scitranslmed.aaf2106
Bacchelli, C., Moretti, F.A., Carmo, M., Adams, S., Stanescu, H.C., Pearce, K., ...Woods, C.G. (2016). Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.. The Journal of allergy and clinical immunology,
Wallace, D., Lichtarowicz-Krynska, E., Bockenhauer, D. (2016). Non-accidental salt poisoning.. Archives of disease in childhood, doi:10.1136/archdischild-2016-310437
Klootwijk, E., Dufek, S., Issler, N., Bockenhauer, D., Kleta, R. (2016). Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome. Expert Opinion on Orphan Drugs, 5 (1), 45-54. doi:10.1080/21678707.2017.1259560
Klootwijk, E., Dufek, S., Issler, N., Bockenhauer, D., Kleta, R. (2016). Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome. Expert Opinion on Orphan Drugs, 5 (1), 45-54. doi:10.1080/21678707.2017.1259560
Bockenhauer, D., Zaniew, M., Bokenkamp, A., Ludwig, M., Konrad, M., Anglani, F., ...Cheong, H.I. (2016). Progression of CKD and its determinants in children with OCRL mutations - retrospective analysis of a large international cohort.
Plumb, L.A., 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), 631-632.
Plumb, L.A., 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), 631-632.
Assmann, N., Dettmer, K., Simbuerger, J.M.B., Broeker, C., Nuernberger, N., Renner, K., ...Hall, A. (2016). Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.. Cell Reports, 15 (7), 1423-1429. doi:10.1016/j.celrep.2016.04.037
Goldsmith, D.J.A., Forsythe, E., Milford, D., Bockenhauer, D., Foggensteiner, L., Beales, P. (2016). RISK FACTORS FOR SEVERE RENAL DISEASE IN BARDET-BIEDL SYNDROME - PHENOTYPIC AND GENOTYPIC ANALYSES OF THE LARGEST REPORTED AFFECTED COHORT.
Le Quesne Stabej, P., Williams, H.J., James, C., Tekman, M., Stanescu, H.C., Kleta, R., ...Bitner-Glindzicz, M. (2016). STAG3 truncating variant as the cause of primary ovarian insufficiency.. European Journal of Human Genetics, 24 (1), 135-138. doi:10.1038/ejhg.2015.107
Tong, A., Samuel, S., Zappitelli, M., Dart, A., Furth, S., Eddy, A., ...Bockenhauer, D. (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, 17 401. doi:10.1186/s13063-016-1528-5
Safdar, O.Y., El-Desoky, S.M., Bockenhauer, D., Sebire, N., Kari, J.A. (2016). Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers (vol 29, pg 839, 2014). PEDIATRIC NEPHROLOGY, 31 (7), 1199. doi:10.1007/s00467-016-3330-8
Safdar, O.Y., El-Desoky, S.M., Bockenhauer, D., Sebire, N., Kari, J.A. (2016). Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Questions (vol 29, pg 837, 2014). PEDIATRIC NEPHROLOGY, 31 (7), 1197. doi:10.1007/s00467-016-3329-1
Kadkhodayi-Kholghi, N., Gor, J., Ferlin, A., McDermott, L.C., Gale, D.P., Perkins, S.J. (2016). The solution structure of the human complement regulator CFHR5 reveals a compact dimeric structure by X-ray scattering and analytical ultracentrifugation.
Williams, H.J., Hurst, J.R., Ocaka, L., James, C., Pao, C., Chanudet, E., ......G.O.S.g.e.n.e. (2016). The use of whole-exome sequencing to disentangle complex phenotypes.. European Journal of Human Genetics, 24 (2), 298-301. doi:10.1038/ejhg.2015.121
Marx-Berger, D., Milford, D.V., Bandhakavi, M., van't Hoff, 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. doi:10.1111/apa.13415
Marx-Berger, D., Milford, D.V., Bandhakavi, M., Van't Hoff, 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. doi:10.1111/apa.13415
Wedatilake, Y., Niazi, R., Fassone, E., Powell, C.A., Pearce, S., Plagnol, V., ...Footitt, E. (2016). TRNT1 deficiency: clinical, biochemical and molecular genetic features.. Orphanet Journal of Rare Diseases, 11 (1), doi:10.1186/s13023-016-0477-0
Caubit, X., Gubellini, P., Andrieux, J., Roubertoux, P.L., Metwaly, M., Jacq, B., ...Salin, P. (2016). TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. NATURE GENETICS, 48 (11), 1359-1369. doi:10.1038/ng.3681
Bockenhauer, D. (2016). Tubulopathies. In Clinical Pediatric Nephrology: Third Edition. (pp. 819-837). .
Kavanagh, D., McGlasson, S., Jury, A., Williams, J., Scolding, N., Bellamy, C., ...Kanwar, Y.S. (2016). Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature. Blood, doi:10.1182/blood-2016-05-715987
Ware, N., Bockenhauer, D., Chong, K., Krishnan, R., Sebire, N., Stephens, S., Marks, S. (2016). When is biopsy-proven tubulo-interstitial nephritis not tubulo-interstitial nephritis ?.
Braun, D.A., Schueler, M., Halbritter, J., Gee, H.Y., Porath, J.D., Lawson, J.A., ...Stein, D. (2016). Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. KIDNEY INTERNATIONAL, 89 (2), 468-475. doi:10.1038/ki.2015.317

2015

Mencacci, N.E., Rubio-Agusti, I., Zdebik, A., Asmus, F., Ludtmann, M.H.R., Ryten, M., ...Bettencourt, C. (2015). A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.. Am J Hum Genet, 96 (6), 938-947. doi:10.1016/j.ajhg.2015.04.008
Gale, D.P., Oygar, D.D., Lin, F., Oygar, D.P., Connor, T.M.F., Khan, N., ...Neild, G.H. (2015). A NOVEL COL4A1 FRAMESHIFT MUTATION AND KIDNEY DISEASE WITHOUT EXTRA-RENAL INVOLVEMENT IN A LARGE TURKISH CYPRIOT FAMILY.
Edwards, N., Rice, S.J., Raman, S., Hynes, A.M., Srivastava, S., Moore, I., ...Thwaites, D.T. (2015). A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. Clinical Kidney Journal, 8 (1), 113-119. doi:10.1093/ckj/sfu129
Walsh, P., Bienias, M., Bockenhauer, D. (2015). A SINGLE-CENTRE RETROSPECTIVE REVIEW OF PATIENTS WITH A GENETIC DIAGNOSIS OF BARTTER & GITELMAN SYNDROME.
Sadowski, C.E., Lovric, S., Ashraf, S., Pabst, W.L., Gee, H.Y., Kohl, S., ...Halbritter, J. (2015). A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 26 (6), 1279-1289. doi:10.1681/ASN.2014050489
Hannan, F.M., Howles, S.A., Rogers, A., Cranston, T., Gorvin, C.M., Babinsky, V.N., ...Brown, R.S. (2015). Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. HUMAN MOLECULAR GENETICS, 24 (18), 5079-5092. doi:10.1093/hmg/ddv226
Recker, F., Zaniew, M., Böckenhauer, D., Miglietti, N., Bökenkamp, A., Moczulska, A., ...Kasap-Demir, B. (2015). Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.. PEDIATRIC NEPHROLOGY, 30 (6), 931-943. doi:10.1007/s00467-014-3013-2
Levine, A.P., Connor, T.M., Oygar, D.D., Neild, G.H., Segal, A.W., Maxwell, P.H., Gale, D.P. (2015). Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. BMC Genomics, 16 doi:10.1186/s12864-015-1360-4
Webb, H., Bockenhauer, D., Tullus, K., Jaureguiberry, G. (2015). COMPARING CYCLOPHOSPHAMIDE AND RITUXIMAB IN STEROID DEPENDENT NEPHROTIC SYNDROME.
Webb, H., Jaureguiberry, G., Dufek, S., Tullus, K., Bockenhauer, D. (2015). Cyclophosphamide and rituximab in frequently relapsing/steroid-dependent nephrotic syndrome. PEDIATRIC NEPHROLOGY, 31 (4), 589-594. doi:10.1007/s00467-015-3245-9
Schueler, M., Braun, D.A., Chandrasekar, G., Gee, H.Y., Klasson, T.D., Halbritter, J., ...Zhou, W. (2015). DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.. AMERICAN JOURNAL OF HUMAN GENETICS, 96 (1), 81-92. doi:10.1016/j.ajhg.2014.12.002
Klootwijk, E.D., Reichold, M., Stanescu, H., Bockenhauer, D., Warth, R., Kleta, R. (2015). Dysfunctional mitochondrial trifunctional protein complex in patients with autosomal dominant renal Fanconi syndrome..
Trautmann, A., Marks, S.D., Bockenhauer, D. (2015). END STAGE KIDNEY DISEASE IN CHILDHOOD AS FIRST CLINICAL PRESENTATION ASSOCIATED WITH A WT1 MUTATION - CASE REPORT.
Plumb, L., Vant Hoff, W., Bockenhauer, D. (2015). EXTREME DISTURBANCES OF ACID-BASE AND ELECTROLYTE HOEMOEOSTASIS IN AN INFANT WITH BARTTER SYNDROME TYPE 4..
Bockenhauer, D., Kleta, R., Vant Hoff, W., Ashton, E. (2015). GENETIC TESTING IN PATIENTS WITH TUBULOPATHIES. PEDIATRIC NEPHROLOGY, 30 (9), 1667.
Bockenhauer, D., Jaureguiberry, G. (2015). HNF1B-associated clinical phenotypes: the kidney and beyond. PEDIATRIC NEPHROLOGY, 31 (5), 707-714. doi:10.1007/s00467-015-3142-2
Lethaby, D., Cyriac, J., Bockenhauer, D. (2015). Is the use of furosemide beneficial in the treatment of acute kidney injury in the paediatric population including neonates?. ARCHIVES OF DISEASE IN CHILDHOOD, 100 (7), doi:10.1136/archdischild-2015-308978
Lethaby, D., Cyriac, J., Bockenhauer, D. (2015). Is the use of furosemide beneficial in the treatment of acute kidney injury in the paediatric population including neonates?. Archives of Disease in Childhood, 100 (7), 713-715. doi:10.1136/archdischild-2015-308472
Chan, M.M.Y., Gale, D.P. (2015). Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century. CLINICAL MEDICINE, 15 (6), 576-580. doi:10.7861/clinmedicine.15-6-576
Gale, D.P., Cook, H.T. (2015). Membranoproliferative glomerulonephritis and C3 glomerulopathy. In Turner, N.N., Lameire, N., Goldsmith, D.J., Winearls, C.G., Himmelfarb, J., Remuzzi, G. (Eds.), Oxford textbook of Clinical Nephrology. Oxford, UK: Oxford University Press.
Stojanovic, J., Marks, S., Bockenhauer, D., Waters, A., Jones, H., Taylor, J., ...Kessaris, N. (2015). OUTCOMES AFTER ABO INCOMPATIBLE TRANSPLANTATION IN CHILDREN.
Stojanovic, J., Adamusiak, A., Waters, A., Bockenhauer, D., Kessaris, N., Barton, C., ...Mamode, N. (2015). Outcomes of ABO Incompatible Kidney Transplantation in Children.
Bockenhauer, D., Bichet, D.G. (2015). Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nature Reviews Nephrology, 11 (10), 576-588. doi:10.1038/nrneph.2015.89
Satlin, L.M., Bockenhauer, D. (2015). Physiology of the developing kidney: Potassium homeostasis and its disorder. In Pediatric Nephrology, Seventh Edition. (pp. 181-217). .
Klootwijk, E.D., Reichold, M., Unwin, R.J., Kleta, R., Warth, R., Bockenhauer, D. (2015). Renal Fanconi syndrome: taking a proximal look at the nephron.. Nephrology Dialysis Transplantation, 30 (9), 1456-1460. doi:10.1093/ndt/gfu377
Klootwijk, E.D., Reichold, M., Unwin, R.J., Kleta, R., Warth, R., Bockenhauer, D. (2015). Renal Fanconi syndrome: taking a proximal look at the nephron.. Nephrology Dialysis Transplantation, 30 (9), 1456-1460. doi:10.1093/ndt/gfu377
Molyneux, K., Wimbury, D., Higgins, T., Gale, D., Barratt, J. (2015). SERUM IGA1 HINGE REGION O-GLYCOSYLATION IS A HERITABLE TRAIT IN CAUCASIANS.
Waters, A.M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., ...Osman, G. (2015). The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.. JOURNAL OF MEDICAL GENETICS, 52 (3), 147-156. doi:10.1136/jmedgenet-2014-102691
Phillips, E.H., Westwood, J.P., Brocklebank, V., Wong, E.K.S., Tellez, J.O., Marchbank, K.J., ...Goodship, T.H.J. (2015). The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 14 (1), 175-185. doi:10.1111/jth.13189
Ip, W., Gaspar, H.B., Kleta, R., Chanudet, E., Bacchelli, C., Pitts, A., ...Amrolia, P. (2015). Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.. Journal of Clinical Immunology, 35 (2), 147-157. doi:10.1007/s10875-015-0135-7

2014

Nadarajah, L., Khosravi, M., Dumitriu, S., Klootwijk, E., Kleta, R., Yaqoob, M.M., Walsh, S.B. (2014). A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.. LANCET, 383 (9911), 98. doi:10.1016/S0140-6736(13)62673-2
Drury, S., Boustred, C., Tekman, M., Stanescu, H., Kleta, R., Lench, N., ...Scott, R.H. (2014). A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 164 (7), 1777-1783. doi:10.1002/ajmg.a.36506
Kari, J.A., Montini, G., Bockenhauer, D., Brennan, E., Rees, L., Trompeter, R.S., ...Ashton, E. (2014). Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. Pediatric Nephrology, 29 (11), 2173-2180. doi:10.1007/s00467-014-2856-x
Kari, J.A., Montini, G., Bockenhauer, D., Brennan, E., Rees, L., Trompeter, R.S., ...Ashton, E. (2014). Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.. PEDIATRIC NEPHROLOGY, 29 (11), 2173-2180. doi:10.1007/s00467-014-2856-x
Kari, J.A., Bockenhauer, D., Stanescu, H., Gari, M., Kleta, R., Singh, A.K. (2014). Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.. AMERICAN JOURNAL OF KIDNEY DISEASES, 63 (2), 304-310. doi:10.1053/j.ajkd.2013.08.033
Kari, J.A., Bockenhauer, D., Stanescu, H., Gari, M., Kleta, R., Singh, A.K. (2014). Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.. AMERICAN JOURNAL OF KIDNEY DISEASES, 63 (2), 304-310. doi:10.1053/j.ajkd.2013.08.033
Guay-Woodford, L.M., Bissler, J.J., Braun, M.C., Bockenhauer, D., Cadnapaphornchai, M.A., Dell, K.M., ...Shneider, B. (2014). Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.. JOURNAL OF PEDIATRICS, 165 (3), 611-617. doi:10.1016/j.jpeds.2014.06.015
Kiryluk, K., Li, Y., Scolari, F., Sanna-Cherchi, S., Choi, M., Verbitsky, M., ...Shapiro, S. (2014). Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.. NATURE GENETICS, 46 (11), 1187-1196. doi:10.1038/ng.3118
Bockenhauer, D. (2014). Draining the edema: a new role for aquaretics?. PEDIATRIC NEPHROLOGY, 29 (5), 767-769. doi:10.1007/s00467-014-2763-1
Bockenhauer, D., Zieg, J. (2014). Electrolyte disorders.. Clinics in Perinatology, 41 (3), 575-590. doi:10.1016/j.clp.2014.05.007
Safder, O., El-Desoky, S.M., Bockenhauer, D., Sebire, N., Kari, J.A. (2014). Erratum to: Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers. Pediatric Nephrology, 29 (5), 945-. doi:10.1007/s00467-014-2784-9
Safder, O., El-Desoky, S.M., Bockenhauer, D., Sebire, N., Kari, J.A. (2014). Erratum to: Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Questions.. Pediatric Nephrology, 29 (5), 943-. doi:10.1007/s00467-014-2783-x
Adam, J., Connor, T.M.F., Wood, K., Lewis, D., Naik, R., Gale, D.P., Sayer, J.A. (2014). Genetic testing can resolve diagnostic confusion in Alport syndrome.. Clinical Kidney Journal, 7 (2), 197-200. doi:10.1093/ckj/sft144
Simpkin, A., Cochran, E., Cameron, F., Dattani, M., de Bock, M., Dunger, D.B., ...Isaac, I. (2014). Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.. Nephron Physiology, 128 (3-4), doi:10.1159/000366225
Simpkin, A., Cochran, E., Cameron, F., Dattani, M., de Bock, M., Dunger, D.B., ...Isaac, I. (2014). Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.. Nephron Physiology, 128 (3-4), doi:10.1159/000366225
Bausch, B., Wellner, U., Bausch, D., Schiavi, F., Barontini, M., Sanso, G., ...Dall'igna, P. (2014). Long-term prognosis of patients with pediatric pheochromocytoma.. ENDOCRINE-RELATED CANCER, 21 (1), 17-25. doi:10.1530/ERC-13-0415
Zdebik, A., Parrock, S., Issler, N., Amin-Rasip, S., Kleta, R., Bockenhauer, D. (2014). Loss of function through heteromerisation - a novel disease mechanism for EAST syndrome. ACTA PHYSIOLOGICA, 210 214.
Gale, D.P., Owen-Casey, M. (2014). Membranoproliferative glomerulonephritis and C3 glomerulopathy. In Practical Nephrology. (pp. 189-202). .
Klootwijk, E.D., Reichold, M., Helip-Wooley, A., Tolaymat, A., Broeker, C., Robinette, S.L., ...Eberhart, K. (2014). Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. New England Journal of Medicine, 370 129-138.
Klootwijk, E.D., Reichold, M., Helip-Wooley, A., Tolaymat, A., Broeker, C., Robinette, S.L., ...Eberhart, K. (2014). Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.. New England Journal of Medicine, 370 129-138.
Tondorf, F., Ratermann, A., Scherl, F., Humberg, E., Reichold, M., Bockenhauer, D., ...Warth, R. (2014). Pathophysiology of the p.A167V Mutation of KCNJ10 in mammalian cells. ACTA PHYSIOLOGICA, 210 146.
Shute, R., Jeelani, O., Lee, L., Brennan, E., Bockenhauer, D., Barnicoat, A., Shroff, R. (2014). Rapid head growth in a baby with ADPKD: Answers. PEDIATRIC NEPHROLOGY, 29 (2), 219-221. doi:10.1007/s00467-013-2489-5
Shute, R., Jeelani, O., Lee, L., Brennan, E., Bockenhauer, D., Barnicoat, A., Shroff, R. (2014). Rapid head growth in a baby with autosomal dominant polycystic kidney disease (ADPKD): questions.. PEDIATRIC NEPHROLOGY, 29 (2), 217-218. doi:10.1007/s00467-013-2488-6
H3Africa, C.o.n.s.o.r.t.i.u.m., Rotimi, C., Abayomi, A., Abimiku, A., Adabayeri, V.M., Adebamowo, C., ...Adeyemo, A. (2014). Research capacity. Enabling the genomic revolution in Africa.. Science, 344 (6190), 1346-1348. doi:10.1126/science.1251546
Webb, N.J.A., Frew, E., Brettell, E.A., Milford, D.V., Bockenhauer, D., Saleem, M.A., ...Maxwell, H. (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 doi:10.1186/1745-6215-15-147
Safdar, O., El-Desoky, S.M., Bockenhauer, D., Sebire, N., Sabire, N., Kari, J.A. (2014). Steroid-resistant nephrotic syndrome in a child with dysmorphic features: answers.. Pediatric nephrology (Berlin, Germany), 29 (5), doi:10.1007/s00467-014-2754-2
Safder, O., El-Desoky, S.M., Bockenhauer, D., Sabire, N., Kari, J.A. (2014). Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Questions.. PEDIATRIC NEPHROLOGY, 29 (5), 837-840. doi:10.1007/s00467-014-2752-4
El-Desoky, S.M., Bockenhauer, D., Shroff, R., Kari, J.A. (2014). Subcutaneous nodules in a child on long-term dialysis.. PEDIATRIC NEPHROLOGY, 29 (7), 1175-1179. doi:10.1007/s00467-013-2571-z
El-Desoky, S.M., Bockenhauer, D., Shroff, R., Kari, J.A. (2014). Subcutaneous nodules in a child on long-term dialysis: Answers.. Pediatric Nephrology, 29 (7), 1177-1179. doi:10.1007/s00467-013-2576-7
Miner, J.H., Baigent, C., Flinter, F., Gross, O., Judge, P., Kashtan, C.E., ...Ding, J. (2014). The 2014 international workshop on alport syndrome.
Miner, J.H., Baigent, C., Flinter, F., Gross, O., Judge, P., Kashtan, C.E., ...Ding, J. (2014). The 2014International Workshop on Alport Syndrome.. KIDNEY INTERNATIONAL, 86 (4), 679-684. doi:10.1038/ki.2014.229
Kari, J.A., El Desoky, S.M., Singh, A.K., Gari, M.A., Kleta, R., Bockenhauer, D. (2014). The case | Renal tubular acidosis and eye findings.. KIDNEY INTERNATIONAL, 86 (1), 217-218. doi:10.1038/ki.2013.320
Kari, J.A., El Desoky, S.M., Singh, A.K., Gari, M.A., Kleta, R., Bockenhauer, D. (2014). The case | Renal tubular acidosis and eye findings.. KIDNEY INTERNATIONAL, 86 (1), 217-218. doi:10.1038/ki.2013.320
Bockenhauer, D., Bichet, D.G. (2014). Urinary concentration: different ways to open and close the tap. Pediatric Nephrology, 29 (8), 1297-1303. doi:10.1007/s00467-013-2526-4
Lin, F., Bian, F., Zou, J., Wu, X., Shan, J., Lu, W., ...Gale, D.P. (2014). Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.. BMC Nephrol, 15 doi:10.1186/1471-2369-15-175

2013

Sumner, C.J., d'Ydewalle, C., Wooley, J., Fawcett, K.A., Hernandez, D., Gardiner, A.R., ...Züchner, S. (2013). A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.. AMERICAN JOURNAL OF HUMAN GENETICS, 93 (5), 976-983. doi:10.1016/j.ajhg.2013.10.006
Pasternack, S.M., Böckenhauer, D., Refke, M., Tasic, V., Draaken, M., Conrad, C., ...Ludwig, M. (2013). A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.. KLINISCHE PADIATRIE, 225 (1), 29-33. doi:10.1055/s-0032-1321900
Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.X., Vega-Warner, V., Lovric, S., ...Avila-Casado, C. (2013). ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.. JOURNAL OF CLINICAL INVESTIGATION, 123 (12), 5179-5189. doi:10.1172/JCI69000
Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.X., Vega-Warner, V., Lovric, S., ...Avila-Casado, C. (2013). ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.. JOURNAL OF CLINICAL INVESTIGATION, 123 (12), 5179-5189. doi:10.1172/JCI69000
Hoff, S., Halbritter, J., Epting, D., Frank, V., Nguyen, T.M.T., Van Reeuwijk, J., ...Helmstädter, M. (2013). ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature Genetics, 45 (8), 951-956. doi:10.1038/ng.2681
Hoff, S., Halbritter, J., Epting, D., Frank, V., Nguyen, T.-.M.T., van Reeuwijk, J., ...Helmstädter, M. (2013). ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.. NATURE GENETICS, 45 (8), 951-U160. doi:10.1038/ng.2681
Webb, E.A., AlMutair, A., Kelberman, D., Bacchelli, C., Chanudet, E., Lescai, F., ...Alrifai, M.T. (2013). ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.. BRAIN, 136 3096-3105. doi:10.1093/brain/awt218
Fish, R.S., Klootwijk, E., Tam, F.W.K., Kleta, R., Wheeler, D.C., Unwin, R.J., Norman, J. (2013). ATP and arterial calcification.. European Journal of Clinical Investigation, Epub ahead of print doi:10.1111/eci.12055
Gale, D.P., Maxwell, P.H. (2013). C3 glomerulonephritis and CFHR5 nephropathy.. NEPHROLOGY DIALYSIS TRANSPLANTATION, 28 (2), 282-288. doi:10.1093/ndt/gfs441
Deltas, C., Gale, D., Cook, T., Voskarides, K., Athanasiou, Y., Pierides, A. (2013). C3 Glomerulonephritis/CFHR5 Nephropathy Is an Endemic Disease in Cyprus: Clinical and Molecular Findings in 21 Families.. Adv Exp Med Biol, 734 189-196. doi:10.1007/978-1-4614-4118-2_12
Deltas, C., Gale, D., Cook, T., Voskarides, K., Athanasiou, Y., Pierides, A. (2013). C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.. COMPLEMENT THERAPEUTICS, 735 189-196. doi:10.1007/978-1-4614-4118-2_12
Pickering, M.C., D'agati, V.D., Nester, C.M., Smith, R.J., Haas, M., Appel, G.B., ...Braun, M. (2013). C3 glomerulopathy: Consensus report.
Pickering, M.C., D'Agati, V.D., Nester, C.M., Smith, R.J., Haas, M., Appel, G.B., ...Braun, M. (2013). C3 glomerulopathy: consensus report.. KIDNEY INTERNATIONAL, 84 (6), 1079-1089. doi:10.1038/ki.2013.377
Kari, J.A., Montini, G., Bockenhauer, D., Rees, L., Trompeter, R.S., Tullus, K., ...Marks, S. (2013). Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. PEDIATRIC NEPHROLOGY, 28 (8), 1453.
Kari, J.A., Montini, G., Bockenhauer, D., Rees, L., Trompeter, R.S., Tullus, K., ...Marks, S. (2013). Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Zdebik, A.A., Mahmood, F., Stanescu, H.C., 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), doi:10.1371/journal.pone.0079765
Zdebik, A.A., Mahmood, F., Stanescu, H.C., 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), doi:10.1371/journal.pone.0079765
Voskarides, K., Demosthenous, P., Papazachariou, L., Arsali, M., Athanasiou, Y., Zavros, M., ...Gale, D.P. (2013). Epistatic role of the MYH9/APOL1 region on familial hematuria genes.. PLoS One, 8 (3), doi:10.1371/journal.pone.0057925
Voskarides, K., Stefanou, C., Savige, J., Benzing, T., Gale, D.P., Daphnis, E., ...Deltas, C. (2013). FUNCTIONAL VARIANTS IN NEPH3 (FILTRIN) AND NPHS2 (PODOCIN) CAN PREDICT PROGRESSION IN PRIMARY HEMATURIC GLOMERULOPATHIES. FURTHER EVIDENCE SHOWS THAT NEPH3 CAN BE ACAUSE OF MICROALBUMINURIA IN THE GENERAL POPULATION.
Mahmood, F., Mozere, M., Zdebik, A.A., Stanescu, H.C., Tobin, J., Beales, P.L., ...Russell, C. (2013). Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.. DISEASE MODELS & MECHANISMS, 6 (3), 652-660. doi:10.1242/dmm.009480
Mahmood, F., Mozere, M., Zdebik, A.A., Stanescu, H.C., Tobin, J., Beales, P.L., ...Russell, C. (2013). Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.. DISEASE MODELS & MECHANISMS, 6 (3), 652-660. doi:10.1242/dmm.009480
Gale, D.P. (2013). How benign is hematuria? Using genetics to predict prognosis.. PEDIATRIC NEPHROLOGY, 28 (8), 1183-1193. doi:10.1007/s00467-012-2399-y
Phillips, E.H., Connolly, J., Westwood, J.-.P., McGuckin, S., Gale, D.P., Goodship, T.H.J., ...Scully, M.A. (2013). Identification Of aHUS and Complement Mutations In Patients Presenting With Acute Thrombotic Microangiopathy.
Connor, T.M.F., Oygar, D.D., Gale, D.P., Steenkamp, R., Nitsch, D., Neild, G.H., Maxwell, P.H. (2013). Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.. PLoS One, 8 (1), doi:10.1371/journal.pone.0054394
Bockenhauer, D., Bichet, D.G. (2013). Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.. AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 304 (8), F1037-F1042. doi:10.1152/ajprenal.00639.2012
Parrock, S., Hussain, S., Issler, N., Differ, A.-.M., Lench, N., Guarino, S., ...van Wieringen, H. (2013). KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.. NEPHRON PHYSIOLOGY, 123 (3-4), 7-14. doi:10.1159/000356353
Parrock, S., Hussain, S., Issler, N., Differ, A.-.M., Lench, N., Guarino, S., ...van Wieringen, H. (2013). KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.. NEPHRON PHYSIOLOGY, 123 (3-4), 7-14. doi:10.1159/000356353
Nibali, L., Medlar, A., Stanescu, H., Kleta, R., Darbar, U., Donos, N. (2013). Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis.. ORAL DISEASES, 19 (1), 100-105. doi:10.1111/j.1601-0825.2012.01965.x
Dumitriu, S., Klootwijk, E., Issler, N., Stanescu, H., Kleta, R., Puiu, M. (2013). Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome. Romanian Review of Laboratory Medicine, 21 437-445.
Hersheson, J., Mencacci, N.E., Davis, M., MacDonald, N., Trabzuni, D., Ryten, M., ...Fawcett, K. (2013). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.. ANNALS OF NEUROLOGY, 73 (4), 546-553. doi:10.1002/ana.23832
Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortés, C.R., McInerney-Leo, A.M., Emes, R.D., ...Leo, P.J. (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 (5), 932-944. doi:10.1016/j.ajhg.2013.10.003
Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortés, C.R., McInerney-Leo, A.M., Emes, R.D., ...Leo, P.J. (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. doi:10.1016/j.ajhg.2013.10.003
Cross, J.H., Arora, R., Heckemann, R.A., Gunny, R., Chong, K., Carr, L., ...Varadkar, S. (2013). Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.. Dev Med Child Neurol, 55 (9), 846-856. doi:10.1111/dmcn.12171
Cross, J.H., Arora, R., Heckemann, R.A., Gunny, R., Chong, K., Carr, L., ...Varadkar, S. (2013). Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.. Dev Med Child Neurol, 55 (9), 846-856. doi:10.1111/dmcn.12171
Bockenhauer, D. (2013). Over- or underfill: not all nephrotic states are created equal.. PEDIATRIC NEPHROLOGY, 28 (8), 1153-1156. doi:10.1007/s00467-013-2435-6
Coenen, M.J.H., Hofstra, J.M., Debiec, H., Stanescu, H.C., Medlar, A.J., Stengel, B., ...Powis, S.H. (2013). Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.. Journal of the American Society of Nephrology,
Coenen, M.J.H., Hofstra, J.M., Debiec, H., Stanescu, H.C., Medlar, A.J., Stengel, B., ...Powis, S.H. (2013). Phospholipase A2 receptor (PLA2R1) sequence variations in idiopathic membranous nephropathy. Journal of the American Society of Nephrology,
Kari, J.A., El-Desoky, S.M., Gari, M., Malik, K., Vega-Warner, V., Lovric, S., Bockenhauer, D. (2013). Steroid-resistant nephrotic syndrome: impact of genetic testing.. ANNALS OF SAUDI MEDICINE, 33 (6), 533-538. doi:10.5144/0256-4947.2013.533
Medlar, A., Głowacka, D., Stanescu, H., Bryson, K., Kleta, R. (2013). SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU.. BIOINFORMATICS, 29 (4), 413-419. doi:10.1093/bioinformatics/bts704
Russell-Eggitt, I., Bockenhauer, D. (2013). The blind kidney: disorders affecting kidneys and eyes.. PEDIATRIC NEPHROLOGY, 28 (12), 2255-2265. doi:10.1007/s00467-012-2404-5

2012

Connor, T., Oygar, D., Nitsch, D., Gale, D., Steenkamp, R., Neild, G.H., Maxwell, P. (2012). (sic)HIGH INCIDENCE OF END-STAGE RENAL DISEASE IN THE TURKISH-CYPRIOT POPULATION OF NORTHERN CYPRUS: A POPULATION BASED STUDY..
Landouré, G., Knight, M.A., Stanescu, H., Taye, A.A., Shi, Y., Diallo, O., ...Biesecker, L.G. (2012). A candidate gene for autoimmune myasthenia gravis.. NEUROLOGY, 79 (4), 342-347. doi:10.1212/WNL.0b013e318260cbd0
Bockenhauer, D., Penney, M.D., Hampton, D., van't Hoff, W., Gullett, A., Sailesh, S., Bichet, D.G. (2012). A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.. American journal of kidney diseases : the official journal of the National Kidney Foundation, 59 (4), 566-568. doi:10.1053/j.ajkd.2011.09.026
Zivony-Elboum, Y., Westbroek, W., Kfir, N., Savitzki, D., Shoval, Y., Bloom, A., ...Samri, W. (2012). A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.. JOURNAL OF MEDICAL GENETICS, 49 (7), 462-472. doi:10.1136/jmedgenet-2012-100742
Hofstra, J.M., Debiec, H., Short, C.D., Pellé, T., Kleta, R., Mathieson, P.W., ...Wetzels, J.F. (2012). Antiphospholipase A2 receptor antibody titer and subclass in idiopathic membranous nephropathy.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 23 (10), 1735-1743. doi:10.1681/ASN.2012030242
Bichet, D.G., El Tarazi, A., Matar, J., Lussier, Y., Arthus, M.F., Lonergan, M., ...Bissonnette, P. (2012). Aquaporin-2: New mutations responsible for autosomal-recessive nephrogenic diabetes insipidus - Update and epidemiology. CKJ: Clinical Kidney Journal, 5 (3), 195-202. doi:10.1093/ckj/sfs029
Lescai, F., Bonfiglio, S., Bacchelli, C., Chanudet, E., Waters, A., Sisodiya, S.M., ...Hardy, J. (2012). Characterisation and validation of insertions and deletions in 173 patient exomes.. PLoS One, 7 (12), doi:10.1371/journal.pone.0051292
Topaloglu, R., Vilboux, T., Coskun, T., Ozaltin, F., Tinloy, B., Gunay-Aygun, M., ...Kleta, R. (2012). Genetic basis of cystinosis in Turkish patients: a single-center experience.. PEDIATRIC NEPHROLOGY, 27 (1), 115-121. doi:10.1007/s00467-011-1942-6
Bockenhauer, D., Medlar, A.J., Ashton, E., Kleta, R., Lench, N. (2012). Genetic testing in renal disease.. PEDIATRIC NEPHROLOGY, 27 (6), 873-883. doi:10.1007/s00467-011-1865-2
Bockenhauer, D., Medlar, A.J., Ashton, E., Kleta, R., Lench, N. (2012). Genetic testing in renal disease.. PEDIATRIC NEPHROLOGY, 27 (6), 873-883. doi:10.1007/s00467-011-1865-2
Quinlan, C., Guegan, K., Offiah, A., Neill, R.O., Hiorns, M.P., Ellard, S., ...Waters, A.M. (2012). Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.. PEDIATRIC NEPHROLOGY, 27 (4), 581-588. doi:10.1007/s00467-011-2046-z
Has, C., Kiritsi, D., He, Y., Sparta, G., Hausser, I., Bockenhauer, D., ...Bruckner-Tuderman, L. (2012). Integrin alpha 3 Mutations cause a new disease affecting kidney, lung and skin.
Has, C., Spartà, G., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., ...Esser, P. (2012). Integrin α3 mutations with kidney, lung, and skin disease.. NEW ENGLAND JOURNAL OF MEDICINE, 366 (16), 1508-1514. doi:10.1056/NEJMoa1110813
Okada, Y., Sim, X., Go, M.J., Wu, J.-.Y., Gu, D., Takeuchi, F., ...Chen, P. (2012). Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. NATURE GENETICS, 44 (8), 904-+. doi:10.1038/ng.2352
Klootwijk, E.D., Reichold, M., Helip-Wooley, A., Stanescu, H., Bockenhauer, D., Gahl, W., ...Kleta, R. (2012). Mitochondrial mistargeting causes autosomal dominant renal Fanconi syndrome..
Ovunc, B., Ashraf, S., Vega-Warner, V., Bockenhauer, D., Elshakhs, N.A.S., Joseph, M., ...Gesellschaft für Pädiatrische Nephrologie (GPN) Study, G.r.o.u.p. (2012). Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.. NEPHRON CLINICAL PRACTICE, 120 (3), C139-C146. doi:10.1159/000337379
Boyden, L.M., Choi, M., Choate, K.A., Nelson-Williams, C.J., Farhi, A., Toka, H.R., ...Colussi, G. (2012). Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.. NATURE, 482 (7383), 98-U126. doi:10.1038/nature10814
Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., ...Howie, A.J. (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.. Nephron Physiology, 122 (1-2), 1-6. doi:10.1159/000349989
Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., ...Howie, A.J. (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.. Nephron Physiology, 122 (1-2), 1-6. doi:10.1159/000349989
Sparta, G., Has, C., Kiritsi, D., Weibel, L., Moelle, A., Vega-Warner, V., ...Esser, P. (2012). NEP-Syndrome: A New Genetic Condition with Nephrotic Syndrome, Epidermolysis Bullosa and Pulmonary Disease Based on Integrin A3 Mutation.
Sparta', G., Has, C., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., ...Esser, P. (2012). NEP-SYNDROME: A NEW GENETIC CONDITION WITH NEPHROTIC SYNDROME, EPIDERMOLYSIS BULLOSA AND PULMONARY DISEASE BASED ON INTEGRIN alpha 3 MUTATION. PEDIATRIC NEPHROLOGY, 27 (9), 1611.
Böckenhauer, D., Bökenkamp, A., Nuutinen, M., Unwin, R., Van’t Hoff, W., Sirimanna, T., ...Ludwig, M. (2012). Novel OCRL mutations in patients with Dent-2 disease. Journal of Pediatric Genetics, 1 (1), 15-23. doi:10.3233/PGE-2012-005
Waters, A., Rees, L., Sparta, G., Vega-Warner, V., Has, C., Hildebrandt, F., ...Bockenhauer, D. (2012). Renal biopsy findings in a patient with loss-of-function of ITGA3. PEDIATRIC NEPHROLOGY, 27 (9), 1764.
Williams, E.L., Bockenhauer, D., van't Hoff, W.G., Johri, N., Laing, C., Sinha, M.D., ...Rumsby, G. (2012). The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.. NEPHROLOGY DIALYSIS TRANSPLANTATION, 27 (8), 3191-3195. doi:10.1093/ndt/gfs039

2011

Jaureguiberry, G., Van't Hoff, W., Mushtaq, I., Desai, D., Mann, N.P., Kleta, R., ...Bockenhauer, D. (2011). A patient with polyuria and hydronephrosis: answer.. Pediatric Nephrology, 26 (11), 1977-1980. doi:10.1007/s00467-011-1780-6
Jaureguiberry, G., Van't Hoff, W., Mushtaq, I., Desai, D., Mann, N.P., Kleta, R., ...Bockenhauer, D. (2011). A patient with polyuria and hydronephrosis: answer.. Pediatric Nephrology, 26 (11), 1977-1980. doi:10.1007/s00467-011-1780-6
(2011). A patient with polyuria and hydronephrosis: Question. Pediatric Nephrology, 26 (11), 1977-1980. doi:10.1007/s00467-011-1780-6
Jaureguiberry, G., van’t Hoff, W., Mushtaq, I., Desai, D., Mann, N.P., Kleta, R., ...Bockenhauer, D. (2011). A patient with polyuria and hydronephrosis: question. PEDIATRIC NEPHROLOGY, 26 (11), 1977-1980. doi:10.1007/s00467-011-1780-6
Jaureguiberry, G., Van't Hoff, W., Mushtaq, I., Desai, D., Mann, N.P., Kleta, R., ...Bockenhauer, D. (2011). A patient with polyuria and hydronephrosis: question.. PEDIATRIC NEPHROLOGY, 26 (11), 1977-1980. doi:10.1007/s00467-011-1780-6
Thompson, D.A., Feather, S., Stanescu, H.C., Freudenthal, B., Zdebik, A.A., Warth, R., ...van't Hoff, W. (2011). Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.. 589 (Pt 7), 1681-1689.
Thompson, D.A., Feather, S., Stanescu, H.C., Freudenthal, B., Zdebik, A.A., Warth, R., ...van't Hoff, W. (2011). Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.. 589 (Pt 7), 1681-1689.
Formenti, F., Beer, P.A., Croft, Q.P.P., Dorrington, K.L., Gale, D.P., Lappin, T.R.J., ...McMullin, M.F. (2011). Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.. FASEB JOURNAL, 25 (6), 2001-2011. doi:10.1096/fj.10-177378
Bond, J., Gale, D.P., Connor, T., Adams, S., de Boer, J., Gascoyne, D.M., ...Ancliff, P.J. (2011). Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.. BLOOD, 117 (13), 3699-3701. doi:10.1182/blood-2010-12-327569
Böckenhauer, D., Stanescu, H., Bandulik, S., Reichold, M., Zdebik, A., Warth, R., Kleta, R. (2011). EAST syndrome : A new disease with renal salt wasting. Nephrologe, 6 (6), 529-536. doi:10.1007/s11560-011-0560-4
Böckenhauer, D., Stanescu, H., Bandulik, S., Reichold, M., Zdebik, A., Warth, R., Kleta, R. (2011). EAST syndrome : A new disease with renal salt wasting. Nephrologe, 6 (6), 529-536. doi:10.1007/s11560-011-0560-4
Vivante, A., Lotan, D., Pode-Shakked, N., Landau, D., Svec, P., Nampoothiri, S., ...Dekel, B. (2011). Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.. NEPHRON PHYSIOLOGY, 119 (3), P31-P39. doi:10.1159/000329668
Athanasiou, Y., Voskarides, K., Gale, D.P., Damianou, L., Patsias, C., Zavros, M., ...Hadjisavvas, A. (2011). Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 6 (6), 1436-1446. doi:10.2215/CJN.09541010
Kleta, R., Klootwijk, E., Stanescu, H., Bockenhauer, D. (2011). Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?. NEPHROLOGY DIALYSIS TRANSPLANTATION, 26 (9), 2743-2745. doi:10.1093/ndt/gfr437
Kleta, R., Klootwijk, E., Stanescu, H., Bockenhauer, D. (2011). Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?. NEPHROLOGY DIALYSIS TRANSPLANTATION, 26 (9), 2743-2745. doi:10.1093/ndt/gfr437
Bockenhauer, D. (2011). Genetic disorders of potassium transport. PEDIATRIC NEPHROLOGY, 26 (9), 1743.
International Consortium for Blood Pressure Genome-Wide Association, S.t.u.d.i.e.s., Ehret, G.B., Munroe, P.B., Rice, K.M., Bochud, M., Johnson, A.D., ...Verwoert, G.C. (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.. 478 103-109. doi:10.1038/nature10405
Wain, L.V., Verwoert, G.C., O'Reilly, P.F., Shi, G., Johnson, T., Johnson, A.D., ...Smith, A.V. (2011). Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NATURE GENETICS, 43 (10), 1005-U122. doi:10.1038/ng.922
Freudenthal, B., Kulaveerasingam, D., Lingappa, L., Shah, M.A., Brueton, L., Wassmer, E., ...Bockenhauer, D. (2011). KCNJ10 mutations disrupt function in patients with EAST syndrome.. NEPHRON PHYSIOLOGY, 119 (3), P40-P48. doi:10.1159/000330250
Freudenthal, B., Kulaveerasingam, D., Lingappa, L., Shah, M.A., Brueton, L., Wassmer, E., ...Bockenhauer, D. (2011). KCNJ10 mutations disrupt function in patients with EAST syndrome.. NEPHRON PHYSIOLOGY, 119 (3), P40-P48. doi:10.1159/000330250
Gale, D.P., Maxwell, P.H., Pickering, M.C., Goicoechea de Jorge, E. (2011). Methods related to a mutation in Complement Factor H-Related protein 5 in patients with glomerulonephritis. WO/2011/004148.
Otto, E.A., Ramaswami, G., Janssen, S., Chaki, M., Allen, S.J., Zhou, W., ...Wolf, M.T. (2011). Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.. JOURNAL OF MEDICAL GENETICS, 48 (2), 105-116. doi:10.1136/jmg.2010.082552
Gunay-Aygun, M., Falik-Zaccai, T.C., Vilboux, T., Zivony-Elboum, Y., Gumruk, F., Cetin, M., ...Huang, Y. (2011). NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.. NATURE GENETICS, 43 (8), 732-734. doi:10.1038/ng.883
Ciarimboli, G., Holle, S.K., Vollenbröcker, B., Hagos, Y., Reuter, S., Burckhardt, G., ...Rossi, R. (2011). New clues for nephrotoxicity induced by ifosfamide: preferential renal uptake via the human organic cation transporter 2.. MOLECULAR PHARMACEUTICS, 8 (1), 270-279. doi:10.1021/mp100329u
St Hilaire, C., Ziegler, S.G., Markello, T.C., Brusco, A., Groden, C., Gill, F., ...Yang, D. (2011). NT5E mutations and arterial calcifications.. NEW ENGLAND JOURNAL OF MEDICINE, 364 (5), 432-442. doi:10.1056/NEJMoa0912923
Barber, B.R., Weber, M.A., Bockenhauer, D., Hiorns, M.P., McHugh, K. (2011). Postmortem MRI of bladder agenesis.. PEDIATRIC RADIOLOGY, 41 (1), 110-112. doi:10.1007/s00247-010-1728-1
Bockenhauer, D. (2011). Pulse wave velocity, blood pressure and bicycle tyres.. PEDIATRIC NEPHROLOGY, 26 (8), 1343. doi:10.1007/s00467-011-1866-1
Vernon, K.A., Gale, D.P., de Jorge, E.G., McLean, A.G., Galliford, J., Pierides, A., ...Cook, H.T. (2011). Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.. AMERICAN JOURNAL OF TRANSPLANTATION, 11 (1), 152-155. doi:10.1111/j.1600-6143.2010.03333.x
Gale, D.P., Pickering, M.C. (2011). Regulating complement in the kidney: insights from CFHR5 nephropathy.. DISEASE MODELS & MECHANISMS, 4 (6), 721-726. doi:10.1242/dmm.008052
Marks, S.D., Gullett, A.M., Brennan, E., Tullus, K., Jaureguiberry, G., Klootwijk, E., ...Woolf, A.S. (2011). Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.. Pediatric Nephrology, 26 (10), 1857-1861. doi:10.1007/s00467-011-1891-0
Stanescu, H.C., Kottgen, A., Kleta, R. (2011). Risk Alleles in Idiopathic Membranous Nephropathy REPLY. New Engl J Med, 364 2073-2074.
Stanescu, H.C., Arcos-Burgos, M., Medlar, A., Bockenhauer, D., Kottgen, A., Dragomirescu, L., ...Hubank, M. (2011). Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.. NEW ENGLAND JOURNAL OF MEDICINE, 364 616-626. doi:10.1056/NEJMoa1009742
Stanescu, H.C., Arcos-Burgos, M., Medlar, A., Bockenhauer, D., Kottgen, A., Dragomirescu, L., ...Hubank, M. (2011). Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.. NEW ENGLAND JOURNAL OF MEDICINE, 364 616-626. doi:10.1056/NEJMoa1009742
Domené, S., Stanescu, H., Wallis, D., Tinloy, B., Pineda, D.E., Kleta, R., ...Muenke, M. (2011). Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 156B (1), 11-18. doi:10.1002/ajmg.b.31141
Kenny, J., Lees, M.M., Drury, S., Barnicoat, A., Van't Hoff, W., Palmer, R., ...Bockenhauer, D. (2011). Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.. PEDIATRIC NEPHROLOGY, 26 (8), 1331-1334. doi:10.1007/s00467-011-1884-z
Gale, D.P. (2011). The identification of CFHR5 nephropathy.. JOURNAL OF THE ROYAL SOCIETY OF MEDICINE, 104 (5), 186-190. doi:10.1258/jrsm.2011.11k013
Bockenhauer, D., Aitkenhead, H. (2011). The kidney speaks: interpreting urinary sodium and osmolality.. ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION, 96 (6), 223-227. doi:10.1136/archdischild-2011-300115
Bandulik, S., Schmidt, K., Bockenhauer, D., Zdebik, A.A., Humberg, E., Kleta, R., ...Reichold, M. (2011). The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 461 (4), 423-435. doi:10.1007/s00424-010-0915-0
Bandulik, S., Schmidt, K., Bockenhauer, D., Zdebik, A.A., Humberg, E., Kleta, R., ...Reichold, M. (2011). The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 461 (4), 423-435. doi:10.1007/s00424-010-0915-0
Bandulik, S., Schmidt, K., Bockenhauer, D., Zdebik, A.A., Humberg, E., Kleta, R., ...Reichold, M. (2011). The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K⁺ channel. Pflugers Archiv European Journal of Physiology, 461 (4), 423-435. doi:10.1007/s00424-010-0915-0
Kasperavičiūtė, D., Catarino, C.B., Chinthapalli, K., Clayton, L.M.S., Thom, M., Martinian, L., ...Pope, S.A. (2011). Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.. PLoS One, 6 (8), e23182-. doi:10.1371/journal.pone.0023182

2010

Montini, G., Bockenhauer, D., Rees, L., Sebire, N., Tullus, K., van't Hoff, W., ...Marks, S. (2010). A 20-Year Single Centre Experience of Congential and Infantile Nephrotic Syndrome. PEDIATRIC NEPHROLOGY, 25 (9), 1878.
Arcos-Burgos, M., Jain, M., Acosta, M.T., Shively, S., Stanescu, H., Wallis, D., ...Balog, J. (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.. MOLECULAR PSYCHIATRY, 15 (11), 1053-1066. doi:10.1038/mp.2010.6
Bockenhauer, D., Reichold, M., Zdebik, A., Lieberer, E., Schmidt, K., Rapedius, M., ...Baukrowitz, T. (2010). Altered Renal Tubular Ultrastructure and Electrophysiology Caused by KCNJ10 Mutations in EAST Syndrome. PEDIATRIC NEPHROLOGY, 25 (9), 1980.
Gunay-Aygun, M., Font-Montgomery, E., Lukose, L., Tuchman, M., Graf, J., Bryant, J.C., ...Piwnica-Worms, K. (2010). Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 5 (6), 972-984. doi:10.2215/CJN.07141009
Medlar, A., Kleta, R. (2010). Cystinosis and mickey mouse.. Nephrol Dial Transplant, 25 1032-1033.
Ashby, D.R., Gale, D.P., Busbridge, M., Murphy, K.G., Duncan, N.D., Cairns, T.D., ...Chapman, R. (2010). Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin.. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 95 (3), 505-508. doi:10.3324/haematol.2009.013136
Chambers, J.C., Zhang, W., Lord, G.M., van der Harst, P., Lawlor, D.A., Sehmi, J.S., ...Bakker, S.J.L. (2010). Genetic loci influencing kidney function and chronic kidney disease.. NATURE GENETICS, 42 (5), 373-375. doi:10.1038/ng.566
Chernin, G., Vega-Warner, V., Schoeb, D.S., Heeringa, S.F., Ovunc, B., Saisawat, P., ...Hildebrandt, F. (2010). Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 5 (9), 1655-1662. doi:10.2215/CJN.09351209
Gunay-Aygun, M., Zivony-Elboum, Y., Gumruk, F., Geiger, D., Cetin, M., Khayat, M., ...Chezar, J. (2010). Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.. BLOOD, 116 (23), 4990-5001. doi:10.1182/blood-2010-05-286534
Feehally, J., Farrall, M., Boland, A., Gale, D.P., Gut, I., Heath, S., ...Morris, D.L. (2010). HLA has strongest association with IgA nephropathy in genome-wide analysis.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 21 (10), 1791-1797. doi:10.1681/ASN.2010010076
Adalat, S., Papakrivopoulou, J., Woolf, A.S., Bockenhauer, D. (2010). HNF1B and FXYD2 Co-Expression Helps Explain Renal Magnesium Wasting in the Renal Cysts and Diabetes Syndrome. PEDIATRIC NEPHROLOGY, 25 (9), 1977.
Gale, D.P., de Jorge, E.G., Cook, H.T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A.G., ...Athanasiou, Y. (2010). Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.. LANCET, 376 (9743), 794-801. doi:10.1016/S0140-6736(10)60670-8
Reichold, M., Zdebik, A.A., Lieberer, E., Rapedius, M., Schmidt, K., Bandulik, S., ...Baukrowitz, T. (2010). KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 107 (32), 14490-14495. doi:10.1073/pnas.1003072107
Reichold, M., Zdebik, A.A., Lieberer, E., Rapedius, M., Schmidt, K., Bandulik, S., ...Baukrowitz, T. (2010). KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 107 (32), 14490-14495. doi:10.1073/pnas.1003072107
Matejas, V., Hinkes, B., Alkandari, F., Al-Gazali, L., Annexstad, E., Aytac, M.B., ...Cheong, H.I. (2010). Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.. HUMAN MUTATION, 31 (9), 992-1002. doi:10.1002/humu.21304
Landouré, G., Zdebik, A.A., Martinez, T.L., Burnett, B.G., Stanescu, H.C., Inada, H., ...Munns, C.H. (2010). Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.. Nature Genetics, 42 (2), 170-174. doi:10.1038/ng.512
Schoeb, D.S., Chernin, G., Heeringa, S.F., Matejas, V., Held, S., Vega-Warner, V., ...Neuhaus, T.J. (2010). Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).. NEPHROLOGY DIALYSIS TRANSPLANTATION, 25 (9), 2970-2976. doi:10.1093/ndt/gfq088
Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., ...Anikster, Y. (2010). OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.. MOLECULAR GENETICS AND METABOLISM, 100 (2), 149-154. doi:10.1016/j.ymgme.2010.03.005
Vernon, K.A., Gale, D.P., de Jorge, E.G., McLean, A.G., Maxwell, P.H., Pickering, M.C., Cook, H.T. (2010). Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.
Adalat, S., Bockenhauer, D., Ledermann, S.E., Hennekam, R.C., Woolf, A.S. (2010). Renal malformations associated with mutations of developmental genes: messages from the clinic.. PEDIATRIC NEPHROLOGY, 25 (11), 2247-2255. doi:10.1007/s00467-010-1578-y
Bockenhauer, D., van't Hoff, W., Lehnhardt, A., Subtirelu, M., Hildebrandt, F., Bichet, D.G. (2010). Secondary Inherited NDI: A Diagnostic Pitfall. PEDIATRIC NEPHROLOGY, 25 (9), 1913-1914.
Bockenhauer, D., van't Hoff, W., Dattani, M., Lehnhardt, A., Subtirelu, M., Hildebrandt, F., Bichet, D.G. (2010). Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.. NEPHRON PHYSIOLOGY, 116 (4), P23-P29. doi:10.1159/000320117
Mekahli, D., Woolf, A.S., Bockenhauer, D. (2010). Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms. PEDIATRIC NEPHROLOGY, 25 (11), 2275-2282. doi:10.1007/s00467-010-1617-8
Waters, A.M., Pappworth, I., Marchbank, K., Bockenhauer, D., Tullus, K., Pickering, M.C., ...Marks, S.D. (2010). Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T.. American journal of transplantation,
Gale, D.P., Maxwell, P.H. (2010). The role of HIF in immunity.. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 42 (4), 486-494. doi:10.1016/j.biocel.2009.10.012
Lou, T., Zhang, J., Gale, D.P., Rees, A.J., Rhodes, B., Feehally, J., ...Huang, W. (2010). Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.. NEPHROLOGY DIALYSIS TRANSPLANTATION, 25 (5), 1547-1554. doi:10.1093/ndt/gfp661
Lou, T., Zhang, J., Gale, D.P., Rees, A.J., Rhodes, B., Feehally, J., ...Huang, W. (2010). Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.. NEPHROLOGY DIALYSIS TRANSPLANTATION, 25 (7), 2387. doi:10.1093/ndt/gfq312
Bockenhauer, D., Carpentier, E., Rochdi, D., van't Hoff, W., Breton, B., Bernier, V., ...Bichet, D.G. (2010). Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.. Nephron Physiol, 114 (1), p1-10. doi:10.1159/000245059

2009

Cansick, J., Rees, L., Koffman, G., Van't Hoff, W., Bockenhauer, D. (2009). A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation.. Pediatric Nephrology, 24 1231-1234.
Formenti, F., Beer, P., Croft, Q.P.P., Dorrington, K.L., Gale, D.P., Lappin, T.R.J., ...O'Connor, D.F. (2009). A 'GAIN-OF-FUNCTION' MUTATION IN THE HYPOXIA-INDUCIBLE FACTOR 2 alpha GENE DOES NOT REDUCE EXERCISE CAPACITY IN HUMANS. JOURNAL OF PHYSIOLOGICAL SCIENCES, 59 357.
de Jorge, E.G., Gale, D.P., Cook, H.T., Martinez-Barricarte, R., Hadjisavvas, A., Pusey, C.D., ...Maxwell, P.H. (2009). A mutant complement factor H-related 5 protein is associated with familial C3 glomerulonephritis.
Dobbie, A., Feather, S., Bockenhauer, D., Stanescu, H., Sheridan, E. (2009). A new syndrome presenting with epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome).
Gale, D.P., Maxwell, P.H. (2009). Adaptation a l'hypoxie. In Casadevall, N., Gisselbrecht, C., Rossert, J. (Eds.), Les agents stimulant l'érythropoïèse. John Libbey Eurotext.
Krischock, L., Gullett, A., Bockenhauer, D., Rees, L., Trompeter, R.S., Marks, S.D. (2009). Calcineurin-inhibitor free immunosuppression with mycophenolate mofetil and corticosteroids in paediatric renal transplantation improves renal allograft function without increasing acute rejection.. Pediatric Transplantation, 13 475-481.
Krischock, L., Gullett, A., Bockenhauer, D., Rees, L., Trompeter, R.S., Marks, S.D. (2009). Calcineurin-inhibitor free immunosuppression with mycophenolate mofetil and corticosteroids in paediatric renal transplantation improves renal allograft function without increasing acute rejection.. PEDIATRIC TRANSPLANTATION, 13 (4), 475-481. doi:10.1111/j.1399-3046.2008.01031.x
Bockenhauer, D., Hug, M.J., Kleta, R. (2009). Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin. Pediatric Nephrology, 24 (5), 925-928.
Bockenhauer, D., Hug, M.J., Kleta, R. (2009). Cystic fibrosis, aminoglycoside treatment and acute renal failure: the not so gentle micin.. Pediatric Nephrology, 24 (5), 925-928.
Bokenkamp, A., Bockenhauer, D., Cheong, H.I., Hoppe, B., Tasic, V., Unwin, R., Ludwig, M. (2009). Dent-2 Disease: A Mild Variant of Lowe Syndrome. Journal of Pediatrics, 155 (1), 94-99.
Clark, J.A., Turner, M.L., Howard, L., Stanescu, H., Kleta, R., Kopp, J.B. (2009). Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity.. BMC Dermatology, 9 8-. doi:10.1186/1471-5945-9-8
Busbridge, M., Griffiths, C., Ashby, D., Gale, D., Jayantha, A., Sanwaiya, A., Chapman, R.S. (2009). Development of a novel immunoassay for the iron regulatory peptide hepcidin. BRITISH JOURNAL OF BIOMEDICAL SCIENCE, 66 (3), 150-157. doi:10.1080/09674845.2009.11730263
Bockenhauer, D., Feather, S., Stanescu, H.C., Bandulik, S., Zdebik, A.A., Reichold, M., ...Landoure, G. (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. New England Journal of Medicine, 360 (19), 1960-1970.
Bockenhauer, D., Feather, S., Stanescu, H.C., Bandulik, S., Zdebik, A.A., Reichold, M., ...Landoure, G. (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.. New England Journal of Medicine, 360 (19), 1960-1970.
Busbridge, M., Ashby, D., Gale, D.P., Chapman, R., Patrick, M., Bloom, S. (2009). Erythropoietin therapy leads to a reduction in hepcidin in chronic renal disease patients.
Volke, M., Gale, D.P., Maegdefrau, U., Schley, G., Klanke, B., Bosserhoff, A.-.K., ...Warnecke, C. (2009). Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factors.. PLOS ONE, 4 (11), doi:10.1371/journal.pone.0007875
Bockenhauer, D., Adalat, S., Johnstone, K.A., Wirsing, A., Harries, L.W., Long, D.A., ...van't Hoff, W. (2009). hepatocyte nuclear factor 1 beta mutations are associated with hypomagnesaemia and renal magnesium wasting.
Bockenhauer, D., Adalat, S., Johnstone, K.A., Wirsing, A., Harries, L.W., Long, D.A., ...van't Hoff, W. (2009). Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting.
Bockenhauer, D., Adalat, S., Johnstone, K.A., Wirsing, A., Harries, L.W., Long, D.A., ...van't Hoff, W. (2009). Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting. Pediatric Nephrology, 24 (4), 885.
Ashby, D.R., Gale, D.P., Busbridge, M., Maxwell, P.H., Choi, P. (2009). Hepcidin levels in patients with renal disease Response. KIDNEY INTERNATIONAL, 76 (6), 680-681. doi:10.1038/ki.2009.240
Adalat, S., Woolf, A.S., Johnstone, K.A., Wirsing, A., Harries, L.W., Long, D.A., ...van 'tHoff, W. (2009). HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. Journal of the American Society of Nephrology, 20 (5), 1123-1131.
Oram, R.A., Edghill, E.L., Adalat, S., Bockenhauer, D., Ellard, S., Woolf, A.S., Bingham, C. (2009). HNF1B MUTATIONS: REVIEW OF 109 AFFECTED PROBANDS. PEDIATRIC NEPHROLOGY, 24 (9), 1804.
Mekahli, D., Woolf, A.S., Bockenhauer, D. (2009). IS RENAL MORBIDITY UNDERESTIMATED IN CHILDREN WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE?. PEDIATRIC NEPHROLOGY, 24 (9), 1801.
Gonzales, P.A., Pisitkun, T., Hoffert, J.D., Tchapyjnikov, D., Star, R.A., Kleta, R., ...Knepper, M.A. (2009). Large-scale proteomics and phosphoproteomics of urinary exosomes.. Journal of the American Society of Nephrology, 20 363-379.
Waters, A., Quinlan, C., Guegan, K., Hiorns, M., Bockenhauer, D., Van't Hoff, W. (2009). LONG-TERM GROWTH AND NEPHROCALCINOSIS IN PHEX-ASSOCIATED HYPOPHOSPHATAEMIC RICKETS. PEDIATRIC NEPHROLOGY, 24 (9), 1796-1797.
Bockenhauer, D., van't Hoff, W., Chernin, G., Heeringa, S.F., Sebire, N.J. (2009). Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. Pediatric Nephrology, 24 (7), 1399-1401.
Bockenhauer, D., van't Hoff, W., Chernin, G., Heeringa, S.F., Sebire, N.J. (2009). Membranoproliferative glomerulonephritis associated with a mutation in WT1. Pediatric Nephrology, 24 (4), 903.
Vilboux, T., Kayser, M., Introne, W., Suwannarat, P., Bernardini, I., Fischer, R., ...Gahl, W.A. (2009). Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.. Human Mutation, 30 1611-1619.
Bockenhauer, D. (2009). Oxford Desk Reference: Nephrology. In Barratt, J., Topham, P., Harris, K. (Eds.), Oxford Desk Reference: Nephrology. Oxford University Press, USA.
Bockenhauer, D., Bichet, D.G., Unwin, R. (2009). Oxford Desk Reference: Nephrology. In Barratt, J., Topham, P., Harris, K. (Eds.), Oxford Desk Reference: Nephrology. Oxford University Press, USA.
Bockenhauer, D., Bichet, D.G., Unwin, R. (2009). Oxford Desk Reference: Nephrology. In Barratt, J., Topham, P., Harris, K. (Eds.), Oxford Desk Reference: Nephrology. Oxford University Press, USA.
Ashby, D.R., Gale, D.P., Busbridge, M., Murphy, K.G., Duncan, N.D., Cairns, T.D., ...Chapman, R.S. (2009). Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease. KIDNEY INTERNATIONAL, 75 (9), 976-981. doi:10.1038/ki.2009.21
Ashby, D.R., Gale, D.P., Busbridge, M., Singh, S.K., Maxwell, P.H., Choi, P. (2009). Response to 'Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease'. KIDNEY INTERNATIONAL, 76 (10), 1116. doi:10.1038/ki.2009.337
Ashby, D.R., Gale, D.P., Busbridge, M., Maxwell, P.H., Choi, P. (2009). Response to 'The utility of multivariate analysis in the study of hepcidin'. KIDNEY INTERNATIONAL, 76 (8), 912-913. doi:10.1038/ki.2009.277
Hinkes, G., Chernin, D., Heeringa, S., Schoeb, D., Bockenhauer, D., Soliman, N.A., ...Hildebrandt, F. (2009). Studying a rare disease: two novel cases of NPHS3 caused by mutations in PLCE1. Pediatric Nephrology, 24 (4), 904.
Waters, A.M., Pappworth, I., Marchbank, K., Bockenhauer, D., Tullus, K., Pickering, M.C., ...Marks, S.D. (2009). Successful Renal Transplantation in Factor H Autoantibody. Am J Transplant,
Bockenhauer, D., van't Hoff, W., Bernier, V., Bouvier, M., Bichet, D.G. (2009). The AVPR2 mutation V88M is associated with both partial and complete nephrogenic diabetes insipidus. Pediatric Nephrology, 24 (4), 905.
Bockenhauer, D., Stanescu, H.C., Kleta, R. (2009). The EAST syndrome and KCNJ10 mutations. New England Journal of Medicine, 361 630-631.
Bockenhauer, D., Stanescu, H.C., Kleta, R. (2009). The EAST Syndrome and KCNJ10 Mutations REPLY. NEW ENGLAND JOURNAL OF MEDICINE, 361 (6), 630-631.
Camargo, S.M.R., Singer, D., Makrides, V., Huggel, K., Pos, K.M., Wagner, C.A., ...Kleta, R. (2009). Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.. Gastroenterology, 136 872-882.
Bockenhauer, D., Carpentier, E., Rochdi, D., van't, H.W., Breton, B., Bernier, V., ...Bichet, D.G. (2009). Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus. Nephron Physiol, 114 (1), 1-10.

2008

Krishnan, R.G., Rees, L., Tullus, K., Bockenhauer, D., Trompeter, R.S., Van't Hoff, W., ...Marks, S.D. (2008). A 30-year single centre experience of Membranoproliferative Glomerulonephritis.
Westbroek, W., Tuchman, M., Tinloy, B., De Wever, O., Vilboux, T., Hertz, J.M., ...Kleta, R. (2008). A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.. Molecular Genetics and Metabolism, 94 248-254.
Bockenhauer, D., Rees, L., Neumann, H., Foo, Y. (2008). A sporadic case of paraganglioma undetected by urine metabolite screening.. Pediatric Nephrology, 23 1889-1891.
Camargo, S.M.R., Bockenhauer, D., Kleta, R. (2008). Aminoacidurias: Clinical and molecular aspects. Kidney International, 73 (8), 918-925.
Camargo, S.M.R., Bockenhauer, D., Kleta, R. (2008). Aminoacidurias: Clinical and molecular aspects.. Kidney International, 73 (8), 918-925.
Bockenhauer, D., Cruwys, M., Kleta, R., Halperin, L.F., Wildgoose, P., Souma, T., ...Kamel, K.S. (2008). Antenatal Bartter's syndrome: why is this not a lethal condition?. QJM, 101 927-942.
Bockenhauer, D., Cruwys, M., Kleta, R., Halperin, L.F., Wildgoose, P., Souma, T., ...Kamel, K.S. (2008). Antenatal Bartter's syndrome: why is this not a lethal condition?. QJM, 101 927-942.
Gale, D.P., Harten, S.K., Reid, C.D.L., Tuddenham, E.G.D., Maxwell, P.H. (2008). Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.. BLOOD, 112 (3), 919-921. doi:10.1182/blood-2008-04-153718
Bockenhauer, D. (2008). Comprehensive pediatric nephrology. In Geary, D.F., Schaefer, F. (Eds.), Comprehensive pediatric nephrology. Mosby.
Bockenhauer, D., van't Hoff, W.G. (2008). Comprehensive pediatric nephrology. In Geary, D.F., Schaefer, F. (Eds.), Comprehensive pediatric nephrology. Mosby.
Böckenhauer, D. (2008). Diabetes Insipidus. In Comprehensive Pediatric Nephrology. (pp. 489-498). .
Annear, N.M.P., Gale, D.P., Loughlin, S., Dorkins, H.R., Maxwell, P.H. (2008). End-stage renal failure associated with congenital deafness. NDT Plus, 1 (3), 171-175. doi:10.1093/ndtplus/sfn019
Bockenhauer, D., Debiec, H., Sebire, N., Barratt, M., Warwicker, P., Ronco, P., Kleta, R. (2008). Familial membranous nephropathy: an X-linked genetic susceptibility?. Nephron Clinical Practice, 108 (1), c10-c15.
Bockenhauer, D., Debiec, H., Sebire, N., Barratt, M., Warwicker, P., Ronco, P., Kleta, R. (2008). Familial membranous nephropathy: an X-linked genetic susceptibility?. Nephron Clinical Practice, 108 (1), c10-c15.
Kleta, R. (2008). Fanconi or not Fanconi? Lowe syndrome revisited.. Clinical Journal of the American Society of Nephrology, 3 1244-1245.
Böckenhauer, D., Hoff, W.G.V.T. (2008). Fanconi Syndrome. In Comprehensive Pediatric Nephrology. (pp. 433-449). .
Adalat, S., Woolf, A.S., Ledermann, S.E., Van'T Hoff, W., Marks, S.D., Trompeter, R.S., ...Cansick, J. (2008). Hepatocyte nuclear factor 1 beta mutations commonly cause hypomagnesemia. PEDIATRIC NEPHROLOGY, 23 (9), 1654.
Bredrup, C., Matejas, V., Barrow, M., Blahova, K., Bockenhauer, D., Fowler, D.J., ...Mendonca, E.L. (2008). Ophthalmological Aspects of Pierson Syndrome. Am J Ophthalmol.,
Bockenhauer, D., Bokenkamp, A., van't Hoff, W., Levtchenko, E., Kist-van Holthe, J.E., Tasic, V., Ludwig, M. (2008). Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 3 (5), 1430-1436. doi:10.2215/CJN.00520108
Hinkes, B., Vlangos, C., Heeringa, S., Mucha, B., Gbadegesin, R., Liu, J., ...Noyan, A. (2008). Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome. Journal of the American Society of Nephrology, 19 (2), 365-371. doi:10.1681/ASN.2007040452
Heeringa, S.F., Vlangos, C.N., Chernin, G., Hinkes, B., Gbadegesin, R., Liu, J., ...Hildebrandt, F. (2008). Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. NEPHROLOGY DIALYSIS TRANSPLANTATION, 23 (11), 3527-3533. doi:10.1093/ndt/gfn271

2007

Krischock, L., Gullett, A., Bockenhauer, D., Rees, L., Trompeter, R., Marks, S. (2007). Calcineurin-inhibitor free immunosuppression with mycophenolate mofetil and steroids in pediatric renal transplantation improves renal allograft function without increasing acute rejection.
Westbroek, W., Adams, D., Huizing, M., Koshoffer, A., Dorward, H., Tinloy, B., ...Tsilou, E. (2007). Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.. Journal of Investigative Dermatology, 127 2674-2677.
Kausman, J.Y., Bockenhauer, D., Van't Hoff, W. (2007). CINACALCET, A NOVEL TREATMENT FOR TERTIARY HYPERPARATHYROIDISM (THP) COMPLICATING X-LINKED HYPOPHOSPHATAEMIC RICKETS (XLH).
Kleta, R., Gahl, W.A. (2007). Collecting evidence: the case of collectrin (Tmem27) and amino acid transport.. American Journal of Physiology, 292 F531-F532.
Crisponi, L., Crisponi, G., Meloni, A., Toliat, M.R., Nurnberg, G., Usala, G., ...Becker, C. (2007). Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.. The American Journal of Human Genetics, 80 971-981. doi:10.1086/516843
Pepper, R.J., Gale, D.P., Wajed, J., Bommayya, G., Ashby, D., McLean, A., ...Maxwell, P.H. (2007). Inadvertent postdialysis anticoagulation due to heparin line locks.. Hemodialysis International, 11 (4), 430-434.
Bockenhauer, D. (2007). Lowe syndrome and Dent's disease: Two ends of a spectrum.
Ludwig, M., Bockenhauer, D., Fr nd, S., Kuwertz-Broking, E., Nuutinen, M., Sabolic-Avramovska, V., ...Bokenkamp, A. (2007). Lowe syndrome versus Dent disease 2 does type and/or location of OCRL1 mutation predicts phenotype?.
Gahl, W.A., Balog, J.Z., Kleta, R. (2007). Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.. Annals of Internal Medicine, 147 (4), 242-250.
Bokenkamp, A., Bockenhauer, D., van't Hoff, W., Ludwig, M. (2007). Patients with Dent's disease due to OCRL1-gene mutations are shorter than those with CLCN5 mutations.
Bockenhauer, D., van't Hoff, W., Bokenkamp, A., Ludwig, M. (2007). The renal phenotype in Lowe syndrome is similar to Dent's disease.

2006

Kleta, R. (2006). A deeper look into cysteamine absorption for the treatment of cystinosis.. The Journal of Pediatrics, 148 718-719.
Kleta, R. (2006). A key stone cop regulates oxalate homeostasis.. Nature Genetics, 38 403-404. doi:10.1038/ng0406-403
Bockenhauer, D., Rees, L., van't, H.W. (2006). An association of tubular dysfunction, cortical macrocysts and chronic kidney disease. Pediatric Nephrology, 21 (4), 580-583.
Gunay-Aygun, M., Avner, E.D., Bacallao, R.L., Choyke, P.L., Flynn, J.T., Germino, G.G., ...Ingelfinger, J. (2006). Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.. The Journal of Pediatrics, 149 159-164.
Kleta, R., Bockenhauer, D. (2006). Bartter syndromes and other salt-losing tubulopathies. Nephron Physiology, 104 (2), p73-p80.
Kleta, R., Bockenhauer, D. (2006). Bartter syndromes and other salt-losing tubulopathies.. Nephron Physiology, 104 (2), p73-p80.
Lotan, D., Eisenkraft, A., Jacobsson, J.M., Bar-Yosef, O., Kleta, R., Gal, N., ...Anikster, Y. (2006). Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.. Pediatric Nephrology, 21 423-426.
Ueda, M., O'Brien, K., Rosing, D.R., Ling, A., Kleta, R., McAreavey, D., ...Gahl, W.A. (2006). Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.. Clinical Journal of the American Society of Nephrology, 1 555-562.
O’Brien, K., Hussain, N., Warady, B.A., Kleiner, D.E., Kleta, R., Bernardini, I., ...Gahl, W.A. (2006). Nodular Regenerative Hyperplasia and Severe Portal Hypertension in Cystinosis. CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 4 (3), 387-394. doi:10.1016/j.cgh.2005.12.013
Gale, D.P., Cobbold, J.F., Chataway, J. (2006). Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.. EUROPEAN JOURNAL OF HAEMATOLOGY, 76 (1), 75-78. doi:10.1111/j.1600-0609.2005.00563.x
Muller, D., Kausalya, P.J., Bockenhauer, D., Thumfart, J., Meij, I.C., Dillon, M.J., ...Hunziker, W. (2006). Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. Journal of Clinical Endocrinology and Metabolism, 91 (8), 3076-3079. doi:10.1210/jc.2006-0200

2005

Sreedharan, R., Bockenhauer, D. (2005). Congenital nephrotic syndrome responsive to angiotensin-converting enzyme inhibition. Pediatric Nephrology, 20 (9), 1340-1342.
Kleta, R., Kaskel, F., Dohil, R., Goodyer, P., Guay-Woodford, L.M., Harms, E., ...Leonard, M.B. (2005). First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.. Pediatric Nephrology, 20 452-454.
Brooks, B.P., Kleta, R., Stuart, C., Tuchman, M., Jeong, A., Stergiopoulos, S.G., ...Chanoine, J.-.P. (2005). Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.. Clinical Genetics, 68 215-221.
Kleta, R., Bernardini, I., Arcos-Burgos, M., Helip-Wooley, A., Bockenhauer, D., Skovby, F., ...Gahl, W.A. (2005). Molecular basis of the Hartnup disorder. MOLECULAR GENETICS AND METABOLISM, 84 (3), 226.
Kleta, R., Bernardini, I., Arcos-Burgos, M., Helip-Wooley, A., Bockenhauer, D., Skovby, F., ...Gahl, W.A. (2005). Molecular basis of the Hartnup disorder..
Morse, R.P., Kleta, R., Alroy, J., Gahl, W.A. (2005). Novel form of intermediate salla disease: clinical and neuroimaging features.. Journal of Child Neurology, 20 814-816.
Sebire, N.J., Bockenhauer, D. (2005). Posttransplant de novo membranous nephropathy in childhood. Fetal and Pediatric Pathology, 24 (2), 95-103.
Sebire, N.J., Bockenhauer, D. (2005). Post-transplant proteinuria due to de novo membranous nephropathy in childhood.
Sonies, B.C., Almajid, P., Kleta, R., Bernardini, I., Gahl, W.A. (2005). Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.. Medicine, 84 137-146.
Zarzour, W., Kleta, R., Frangoul, H., Suwannarat, P., Jeong, A., Kim, S.Y., ...Filipovich, A.H. (2005). Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.. Molecular Genetics and Metabolism, 85 125-132.

2004

Itani, O.A., Bockenhauer, D., Velazquez, H. (2004). "Distal nephron expression and differential regulation of Nedd4-2 variants", Experimental Biology Meeting, 17-21 April 2004.
Fertig, E.J., Hisama, F.M., Hariri, A., Bockenhauer, D., Lifton, R.P., Spencer, S.S., Novotny, E.J. (2004). "Familial primary hypomagnesemia and temporal lobe epilepsy", Annual Meeting of the American-Epilepsy-Society, 3-7 December 2004.
Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., ...Inoue, S. (2004). "Mutations in SLC6A19 are associated with the Hartnup disorder".
Kleta, R., Romeo, E., Ohura, T., Stuart, C., Arcos-Burgos, M., Wagner, C.A., ...Bockenhauer, D. (2004). "Mutations in SLC6A19 are associated with the Hartnup disorder", 54th Annual Meeting Abstracts.
Lechner, B.L., Bockenhauer, D., Iragorri, S., Kennedy, T.L., Siegel, N.J. (2004). "The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome", Annual Meeting of the Pediatric-Academic-Societies, May 2004.
Kleta, R., O'Brien, K. (2004). Aldosterone revisited.. New England Journal of Medicine, 351 2131.
Huizing, M., Hess, R., Dorward, H., Claassen, D.A., Helip-Wooley, A., Kleta, R., ...Gahl, W.A. (2004). Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.. Traffic, 5 711-722.
Kleta, R., Morse, R.P., Orvisky, E., Krasnewich, D., Alroy, J., Ucci, A.A., ...Gahl, W.A. (2004). Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.. Molecular Genetics and Metabolism, 82 137-143.
Itani, O.A., Bockenhauer, D., Velazquez, H., Thomas, C.P. (2004). Distal nephron expression and differential regulation of Nedd4-2 variants.
Hisama, F.M., Fertig, E.J., Hariri, A., Bockenhauer, D., Lifton, R.P., Spencer, S.S., Novotny, E.J. (2004). Familial primary hypomagnesemia and temporal lobe epilepsy.
Bendavid, C., Kleta, R., Long, R., Ouspenskaia, M., Muenke, M., Haddad, B.R., Gahl, W.A. (2004). FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.. Human Genetics, 115 510-514.
Kleta, R., Blair, S.C., Bernardini, I., Kaiser-Kupfer, M.I., Gahl, W.A. (2004). Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.. Mayo Clinical Proceedings, 79 410-412.
Kleta, R., Bernardini, I., Ueda, M., Varade, W.S., Phornphutkul, C., Krasnewich, D., Gahl, W.A. (2004). Long-term follow-up of well-treated nephropathic cystinosis patients.. The Journal of Pediatrics, 145 555-560.
Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., rcos-Burgos, M., ...Inoue, S. (2004). Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics, 36 (9), 999-1002. doi:10.1038/ng1405
Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., ...Inoue, S. (2004). Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.. Nature Genetics, 36 (9), 999-1002. doi:10.1038/ng1405
Kleta, R., Gahl, W.A. (2004). Pharmacological treatment of nephropathic cystinosis with cysteamine.. Expert Opinion on Pharmacotherapy, 5 2255-2262.
Westbroek, W., Lambert, J., De Schepper, S., Kleta, R., Van Den Bossche, K., Seabra, M.C., ...Naeyaert, J.M. (2004). Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.. Pigment Cell Research, 17 498-505.
Kleta, R., Stuart, C., Gill, F.A., Gahl, W.A. (2004). Renal glucosuria due to SGLT2 mutations.. Molecular Genetics and Metabolism, 82 56-58.
Levy, D.I., Velazquez, H., Goldstein, S.A., Bockenhauer, D. (2004). Segment-specific expression of 2P domain potassium channel genes in human nephron. Kidney International, 65 (3), 918-926. doi:10.1111/j.1523-1755.2004.00458.x
Lechner, B.L., Bockenhauer, D., Iragorri, S., Kennedy, T.L., Siegel, N.J. (2004). The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome. Pediatric Nephrology, 19 (7), 744-748.
Lechner, B.L., Bockenhauer, D., Iragorri, S., Kennedy, T.L., Siegel, N.J. (2004). The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome.
Brooks, B.P., Kleta, R., Caruso, R.C., Stuart, C., Ludlow, J., Stratakis, C.A. (2004). Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.. BMC Ophthalmology, 4 7-.

2003

Kleta, R., Aughton, D.J., Rivkin, M.J., Huizing, M., Strovel, E., Anikster, Y., ...Gahl, W.A. (2003). Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.. American Journal of Medical Genetics Part A, 120A 28-33.
Bockenhauer, D., Ardito, T., Levy, D.I., Velazquez, H., Kashgarian, M. (2003). Expression of K2P5 in human nephron..
Martin, R.A., Slaugh, R., Natowicz, M., Pearlman, K., Orvisky, E., Krasnewich, D., ...Gahl, W.A. (2003). Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.. American Journal of Medical Genetics Part A, 120A 23-27.

2002

Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W.A., Anikster, Y. (2002). 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.. Molecular Genetics and Metabolism, 76 201-206.
Kleta, R., Gahl, W.A. (2002). Cystinosis: antibodies and healthy bodies.. Journal of the American Society of Nephrology, 13 2189-2191.
Cetinkaya, I., Schlatter, E., Hirsch, J.R., Herter, P., Harms, E., Kleta, R. (2002). Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis.. Journal of the American Society of Nephrology, 13 2085-2093.
Ben-Zeev, B., Levy-Nissenbaum, E., Lahat, H., Anikster, Y., Shinar, Y., Brand, N., ...Kleta, R. (2002). Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.. Human Genetics, 111 214-218.
Levy, D.I., Bockenhauer, D., Velazquez, H., Goldstein, S.A.N. (2002). Segmental evaluation of mRNA expression of MinK-related peptides within the human nephron.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 13 72A.
Bockenhauer, D., Levy, D., Velazquez, H., Goldstein, S.A.N. (2002). Segment-specific expression of KCNK channels in human nephron.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 13 71A.

2001

Hausladen, J., Granahan, E., Bockenhauer, D. (2001). Case report: Teenage girl with proteinuria and amenorrhea.. Current Opinion in Pediatrics, 13 (2), 150-153. doi:10.1097/00008480-200104000-00011
Kleta, R., Anikster, Y., Lucero, C., Shotelersuk, V., Huizing, M., Bernardini, I., ...Gahl, W.A. (2001). CTNS mutations in African American patients with cystinosis.. Molecular Genetics and Metabolism, 74 332-337.
Bockenhauer, D., Goldstein, S.A.N. (2001). Excitement: Creating a voltage-dependent potassium channel from a leak. BIOPHYSICAL JOURNAL, 80 (1), 193A.
Kuwertz-Bröking, E., Fründ, S., Bulla, M., Kleta, R., August, C., Kisters, K. (2001). Familial hypomagnesemia-hypercalciuria in 2 siblings.. Clinical Nephrology, 56 155-161.
Bockenhauer, D. (2001). Ion channels in disease.. CURRENT OPINION IN PEDIATRICS, 13 (2), 142-149. doi:10.1097/00008480-200104000-00010
Bockenhauer, D., Zilberberg, N., Goldstein, S.A. (2001). KCNK2: reversible conversion of a hippocampal potassium leak into a voltage-dependent channel. Nature Neuroscience, 4 (5), 457-458. doi:10.1038/87434
Bockenhauer, D., Zilberberg, N., Goldstein, S.A.N. (2001). KCNK2: Reversible conversion of a hippocampal potassium leak into a voltage-dependent channel. Nature Neuroscience, 4 (5), 486-491. doi:10.1038/87434
Goldstein, S.A., Bockenhauer, D., O'Kelly, I., Zilberberg, N. (2001). Potassium leak channels and the KCNK family of two-P-domain subunits.. NATURE REVIEWS NEUROSCIENCE, 2 (3), 175-184. doi:10.1038/35058574
Hausladen, J., Granahan, E., Bockenhauer, D. (2001). Teenage girl with proteinuria and amenorrhea. CURR OPIN PEDIATR, 13 (2), 150-153.
Anikster, Y., Kleta, R., Shaag, A., Gahl, W.A., Elpeleg, O. (2001). Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.. The American Journal of Human Genetics, 69 (6), 1218-1224. doi:10.1086/324651

2000

Denecke, J., Zimmer, K.P., Kleta, R., Koch, H.G., Rabe, H., August, C., Harms, E. (2000). [Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]. Klinische Padiatrie, 212 77-80.
Bockenhauer, D., Nimmakayalu, M.A., Ward, D.C., Goldstein, S.A., Gallagher, P.G. (2000). Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene Kcnk8: conservation of gene structure in 2 P domain potassium channels.. GENE, 261 (2), 365-372. doi:10.1016/S0378-1119(00)00492-3
Kleta, R., Brämswig, J.H. (2000). Horseshoe kidney and Turner syndrome.. Nephrology Dialysis Transplantation, 15 1094.
Bockenhauer, D., Goldstein, S.A.N. (2000). hTPKC1: A potassium channel with a masterswitch. PEDIATRIC RESEARCH, 47 (4), 444A.
Bockenhauer, D., Goldstein, S.E.N., Pausch, M.H. (2000). Improving the pore of a human 2 P domain potassium channel (hTPKC1) by random mutagenesis and selective pressure in S-cerevisiae. BIOPHYSICAL JOURNAL, 78 (1), 206A.
Kleta, R., Fründ, S., Kuwertz-Bröking, E., Bulla, M. (2000). Intraperitoneal application of low-molecular-weight heparin in continuous ambulatory peritoneal dialysis in a child.. Nephron, 86 545.
Kleta, R., Basoglu, C., Kuwertz-Bröking, E. (2000). New treatment options for Bartter's syndrome.. New England Journal of Medicine, 343 661-662.

1999

Kleta, R. (1999). Cyclophosphamide and mercaptoethane sulfonate therapy for minimal lesion glomerulonephritis.. Kidney International, 56 2312-2313.
Kleta, R., Brune, T., Harms, E. (1999). Cystic fibrosis and metabolic alkalosis in children--revisited.. Mineral and Electrolyte Metabolism, 25 210.
Rossi, R., Pleyer, J., Schäfers, P., Kuhn, N., Kleta, R., Deufel, T., Jürgens, H. (1999). Development of ifosfamide-induced nephrotoxicity: prospective follow-up in 75 patients.. Medical and Pediatric Oncology, 32 177-182.
Jorquera, P., Wu, J., Bockenhauer, D. (1999). Nonanion gap metabolic acidosis in a newborn.. Current Opinion in Pediatrics, 11 (2), 169-173. doi:10.1097/00008480-199904000-00012
Rossi, R., Kleta, R., Ehrich, J.H. (1999). Renal involvement in children with malignancies.. Pediatric Nephrology, 13 153-162.
Schleef, J., Wagner, A., Kleta, R., Schaarschmidt, K., Dockhorn-Dworniczak, B., Willital, G., Jürgens, H. (1999). Small-cell carcinoma of the ovary of the hypercalcemic type in an 8-year-old girl.. Pediatric Surgery International, 15 431-434.
Kleta, R., Burckhardt, B.C., Wolff, N.A., Schlatter, E. (1999). Unexpected electrophysiological effects of D-19575, a new cytostatic drug.. Nephrology Dialysis Transplantation, 14, Suppl. 4 18-20.

1998

Stachon, A., Hohage, H., Feidt, C., Kleta, R., Schlatter, E. (1998). Cytostatics and neurotransmitters are transported by the organic cation transporter in proximal cells. Nova Acta Leopoldina, N.F.,Bd. 78 (306), 333-338.
Kleta, R., Schleef, J., Jurgens, H. (1998). Letter to the editor: Tissue plasminogen activator and obstructed central venous catheters. MEDICAL AND PEDIATRIC ONCOLOGY, 30 (6), 376. doi:10.1002/(SICI)1096-911X(199806)30:6<376::AID-MPO17>3.0.CO;2-G
Kleta, R., Wagner, A., Jürgens, H. (1998). Recurrence of SIADH after a high-dose regimen of thiotepa, carboplatin, and etoposide phosphate.. Medical and Pediatric Oncology, 31 129.

1997

Schlatter, E., Ankorina-Stark, I., Cermak, R., Haxelmans, S., Kleta, R., Hirsch, J.R. (1997). Cell Shrinkage Activates a Cation Conductance in Principal Cells of Rat Cortical Collecting Duct. Cellular Physiology and Biochemistry, 7 321-332.
Hirsch, J.R., Cermak, R., Forssmann, W.G., Kleta, R., Kruhøffer, M., Kuhn, M., ...Schlatter, E. (1997). Effects of sodium nitroprusside in the rat cortical collecting duct are independent of the NO pathway.. Kidney International, 51 473-476.

1996

Schlatter, E., Cermak, R., Forssmann, W.G., Hirsch, J.R., Kleta, R., Kuhn, M., ...Schafer, J.A. (1996). cGMP-activating peptides do not regulate electrogenic electrolyte transport in principal cells of rat CCD.. American Journal of Physiology, 271 F1158-F1165.
Cermak, R., Kleta, R., Forssmann, W.G., Schlatter, E. (1996). Natriuretic peptides increase a K+ conductance in rat mesangial cells.. Pflügers Archiv European Journal of Physiology, 431 571-577.

1995

Kleta, R., Mohrmann, M., Schlatter, E. (1995). Effects of cell differentiation on ion conductances and membrane voltage in LLC-PK1 cells.. Pflügers Archiv European Journal of Physiology, 429 370-377.
Schlatter, E., Ankorina, I., Haxelmans, S., Kleta, R. (1995). Effects of diadenosine polyphosphates, ATP and angiotensin II on cytosolic Ca2+ activity and contraction of rat mesangial cells.. Pflügers Archiv European Journal of Physiology, 430 721-728.
Kleta, R., Hirsch, J., Heidenreich, S., Schlüter, H., Zidek, W., Schlatter, E. (1995). Effects of diadenosine polyphosphates, ATP and angiotensin II on membrane voltage and membrane conductances of rat mesangial cells.. Pflügers Archiv European Journal of Physiology, 430 713-720.
Schlatter, E., Haxelmans, S., Ankorina, I., Kleta, R. (1995). Regulation of Na+/H+ exchange by diadenosine polyphosphates, angiotensin II, and vasopressin in rat cortical collecting duct.. Journal of the American Society of Nephrology, 6 1223-1229.

1900

Bockenhauer, D., Penney, M.D., Hampton, D., van't Hoff, W., Gullett, A., Sailesh, S., Bichet, D.G. (1900). A Family With Hyponatremia and the Nephrogenic Syndrome of Inappropriate Antidiuresis. American Journal of Kidney Diseases,
Kleta, R., Bockenhauer, D. (1900). Approach to the patient with Fanconi syndrome. In Oxford textbook of clinical nephrology. .
Bockenhauer, D., Kleta, R. (1900). Approach to the patient with salt-wasting states. In Oxford Textbook of Clinical Nephrology. .
Wan, E., Iancu, D., Ashton, E., Siew, K., Mohidin, B., Sung, C.-.C., ...Nozu, K. (1900). Diagnostic Strategies to Identify Patients with Genetic Salt-Losing Tubulopathies. Cold Spring Harbor Laboratory.
Bockenhauer, D., Stanescu, H., Bandulik, S., Reichold, M., Zdebik, A., Warth, R., Kleta, R. (1900). EAST-Syndrom: Ein neues Krankheitsbild mit renalem Salzverlust. Der Nephrologe,
Gupta, S. (1900). Genetics of membranous nephropathy. (Doctoral Dissertation). UCL (University College London).
Dufek-Kamperis, S. (1900). Genome wide association study in steroid sensitive nephrotic syndrome. (Doctoral Dissertation). UCL.
Quinlan, C., Guegan, K., Offiah, A., O'Neill, R.J., Hiorns, M.P., Bockenhauer, D., ...Waters, A. (1900). Growth in hypophosphataemic rickets: the importance of early treatment. Pediatric Nephrology,
Bockenhauer, D., Rees, L., Brogan, P.A., Webb, N.J.A. (1900). Paediatric Nephrology. .
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