| # 1472 Prevalence of Mendelian and non-Mendelian forms of genetic disease in a Swiss cohort of adult kidney stone formers M Anderegg, E Olinger, M Bargagli, R Geraghty, L Pohlmeier, A Nater, ... Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0125-1472, 2024 | | 2024 |
| # 3020 A novel copy number analysis identifies human patients with NPHP1 whole gene deletions in previously genetically unsolved cases J Sayer, E Olinger, I Wilson Nephrology Dialysis Transplantation 39 (Supplement_1), gfae069-0243-3020, 2024 | | 2024 |
| # 3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS F Wopperer, E Olinger, K Knaup, A Wiesener, K Broeker, M Schiffer, ... Nephrology Dialysis Transplantation 38 (Supplement_1), gfad063c_3166, 2023 | | 2023 |
| 958 Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease P Phakdeekitcharoen, E Olinger, Y Caliskan, H Mabillard, C Pickles, ... Archives of Disease in Childhood 107 (Suppl 2), A97-A98, 2022 | | 2022 |
| A cyclin dependent kinase inhibitor 1B missense mutation (Pro69Leu) is associated with familial hypomagnesaemia, but not multiple endocrine neoplasia type 4 (MEN4) M Stevenson, E Olinger, H Debaix, B Vogt, O Devuyst, R Thakker Endocrine Abstracts 65, 2019 | | 2019 |
| A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families E Olinger, IA Alawi, MS Al Riyami, IA Salmi, E Molinari, EA Faqeih, ... Human mutation 42 (10), 1221-1228, 2021 | 17 | 2021 |
| A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress SE Piret, E Olinger, AAC Reed, MA Nesbit, TA Hough, L Bentley, ... Disease models & mechanisms 10 (6), 773-786, 2017 | 42 | 2017 |
| A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion N Edwards, E Olinger, J Adam, M Kelly, G Schiano, SA Ramsbottom, ... Nephrology Dialysis Transplantation 32 (12), 1994-1999, 2017 | 21 | 2017 |
| A Registry of Patients with Autosomal Dominant Tubulointerstitial Kidney Disease (NCCR project) E Olinger, K Dahan, O Bonny, O Devuyst SWISS MEDICAL WEEKLY 144, 2S-2S, 2014 | | 2014 |
| ACTG2-autosomal dominant visceral myopathy: Identification of novel variants using data from Genomics England 100,000 Genomes Project R Geraghty, I Wilson, E Olinger, JA Sayer European Urology 81, S952-S953, 2022 | | 2022 |
| Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease G Schiano, J Lake, M Mariniello, C Schaeffer, M Harvent, L Rampoldi, ... bioRxiv, 2022.09. 13.507770, 2022 | | 2022 |
| Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease G Schiano, J Lake, M Mariniello, C Schaeffer, M Harvent, L Rampoldi, ... EMBO molecular medicine 15 (12), e18242, 2023 | 1 | 2023 |
| An intermediate-effect size variant in UMOD confers risk for chronic kidney disease E Olinger, C Schaeffer, K Kidd, EAE Elhassan, Y Cheng, I Dufour, ... Proceedings of the National Academy of Sciences 119 (33), e2114734119, 2022 | 23 | 2022 |
| Author response: The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism JJ Stanisich, DS Zyla, P Afanasyev, J Xu, A Kipp, E Olinger, O Devuyst, ... | | |
| Author response: The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin M Brunati, S Perucca, L Han, A Cattaneo, F Consolato, A Andolfo, ... | | |
| Autosomal dominant tubulointerstitial kidney disease O Devuyst, E Olinger, S Weber, KU Eckardt, S Kmoch, L Rampoldi, ... Nature Reviews Disease Primers 5 (1), 60, 2019 | 187 | 2019 |
| Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome LA Devlin, J Coles, CL Jackson, M Barroso‐Gil, B Green, WT Walker, ... Clinical Genetics 103 (3), 330-334, 2023 | 5 | 2023 |
| Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease E Olinger, P Phakdeekitcharoen, Y Caliskan, S Orr, H Mabillard, C Pickles, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 6 | 2022 |
| Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease LR Claus, C Chen, J Stallworth, JL Turner, GG Slaats, AL Hawks, ... Kidney International 104 (5), 995-1007, 2023 | 6 | 2023 |
| Claudins: a tale of interactions in the thick ascending limb E Olinger, P Houillier, O Devuyst Kidney international 93 (3), 535-537, 2018 | 21 | 2018 |
