| Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2 OR Cabezas, SE Flanagan, H Stanescu, E García-Martínez, R Caswell, ... Journal of the American Society of Nephrology 28 (8), 2529-2539, 2017 | 118 | 2017 |
| Treatment and long-term outcome in primary distal renal tubular acidosis SC Lopez-Garcia, F Emma, SB Walsh, M Fila, N Hooman, M Zaniew, ... Nephrology Dialysis Transplantation 34 (6), 981-991, 2019 | 98 | 2019 |
| Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies EJ Ashton, A Legrand, V Benoit, I Roncelin, A Venisse, MC Zennaro, ... Kidney international 93 (4), 961-967, 2018 | 95 | 2018 |
| Clinical and diagnostic features of Bartter and Gitelman syndromes PR Walsh, Y Tse, E Ashton, D Iancu, L Jenkins, M Bienias, R Kleta, ... Clinical Kidney Journal 11 (3), 302-309, 2018 | 80 | 2018 |
| Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p. M694 residue—a case series and genetic exploration DM Rowczenio, DS Iancu, H Trojer, JA Gilbertson, JD Gillmore, ... Rheumatology 56 (2), 209-213, 2017 | 68 | 2017 |
| Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure M Reichold, ED Klootwijk, J Reinders, EA Otto, M Milani, C Broeker, ... Journal of the American Society of Nephrology 29 (7), 1849-1858, 2018 | 64 | 2018 |
| High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults M Hureaux, E Ashton, K Dahan, P Houillier, A Blanchard, C Cormier, ... Kidney international 96 (6), 1408-1416, 2019 | 49 | 2019 |
| EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 O Abdelhadi, D Iancu, H Stanescu, R Kleta, D Bockenhauer Rare Diseases 4 (1), e1195043, 2016 | 49 | 2016 |
| Management of children with congenital nephrotic syndrome: challenging treatment paradigms S Dufek, T Holtta, A Trautmann, E Ylinen, H Alpay, G Ariceta, C Aufricht, ... Nephrology Dialysis Transplantation 34 (8), 1369-1377, 2019 | 47 | 2019 |
| Inflammatory gene expression profiles in Crohn's disease and ulcerative colitis: a comparative analysis using a reverse transcriptase multiplex ligation-dependent probe … S Gologan, R Iacob, D Iancu, S Iacob, B Cotruta, R Vadan, AM Catuneanu, ... Journal of Crohn's and Colitis 7 (8), 622-630, 2013 | 33 | 2013 |
| Long-term outcome in inherited nephrogenic diabetes insipidus S Sharma, E Ashton, D Iancu, MF Arthus, W Hayes, W van’t Hoff, R Kleta, ... Clinical kidney journal 12 (2), 180-187, 2019 | 32 | 2019 |
| Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families MR Dourado, CRR Dos Santos, S Dumitriu, D Iancu, S Albanyan, R Kleta, ... European Journal of Medical Genetics 62 (11), 103561, 2019 | 27 | 2019 |
| Molecular signatures of cardiac stem cells CB Iancu, D Iancu, I Renţea, S Hostiuc, D Dermengiu, MC Rusu Rom J Morphol Embryol 56 (4), 1255-1262, 2015 | 23 | 2015 |
| Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes SPB Pêgo, RD Coletta, S Dumitriu, D Iancu, S Albanyan, R Kleta, ... Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 123 (2), 229 …, 2017 | 22 | 2017 |
| ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature ST Kushary, A Revah‐Politi, S Barua, M Ganapathi, A Accogli, ... American Journal of Medical Genetics Part A 185 (12), 3740-3753, 2021 | 21 | 2021 |
| Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review G Malakasioti, D Iancu, K Tullus Pediatric Nephrology 36, 1353-1364, 2021 | 21 | 2021 |
| Challenging DNA samples solved with MiniSTR analysis CM Constantinescu, LE Barbarii, CB Iancu, A Constantinescu, E Neagu, ... Rom J Leg Med 20, 51-56, 2012 | 18 | 2012 |
| Genetic profiling of nine grapevine cultivars from Romania, based on SSR markers LG Gheţea, RM Motoc, CF Popescu, N Barbacar, D Iancu, ... Romanian Biotechnological Letters 15 (1), 116-124, 2010 | 13 | 2010 |
| A founder mutation in EHD1 presents with tubular proteinuria and deafness N Issler, S Afonso, I Weissman, K Jordan, A Cebrian-Serrano, K Meindl, ... Journal of the American Society of Nephrology 33 (4), 732-745, 2022 | 12 | 2022 |
| Inherited renal tubulopathies—challenges and controversies D Iancu, E Ashton Genes 11 (3), 277, 2020 | 12 | 2020 |
Detlef BockenhauerUCL Department of Renal Medicine and Great Ormond Street HospitalVerified email at ucl.ac.uk
