| GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases TC Hsieh, H Lesmann, A Hustinx, S Moosa, E Marchi, MPC Martin, ... | | 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 |
| # 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 |
| Prevalence and characteristics of genetic disease in adult kidney stone formers MA Anderegg, EG Olinger, M Bargagli, R Geraghty, L Taylor, A Nater, ... Nephrology Dialysis Transplantation, gfae074, 2024 | 1 | 2024 |
| Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel … E Olinger, IJ Wilson, S Orr, M Barroso-Gil, R Neatu, JC Ambrose, ... Genetics in Medicine Open, 101834, 2024 | | 2024 |
| Uromodulin processing in DNAJB11-kidney disease M Mariniello, G Schiano, A Yoshifuji, V Gillion, JA Sayer, F Jouret, ... Kidney international 105 (2), 376-380, 2024 | 1 | 2024 |
| Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data S Orr, E Olinger, S Iosifidou, M Barroso‐Gil, R Neatu, K Wood, I Wilson, ... Annals of Human Genetics 88 (1), 76-85, 2024 | 2 | 2024 |
| Monogenic Kidney Diseases in Kidney Transplantation V Gillion, A Devresse, E Olinger, G Dahlqvist, N Demoulin, N Godefroid, ... Kidney International Reports, 2023 | | 2023 |
| 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 |
| Routine urinary biochemistry does not accurately predict stone type nor recurrence in kidney stone formers: a multicentre, multimodel, externally validated machine-learning study RM Geraghty, I Wilson, E Olinger, P Cook, S Troup, D Kennedy, A Rogers, ... Journal of endourology 37 (12), 1295-1304, 2023 | 3 | 2023 |
| Genome-Wide Copy Number Analysis in 11,754 Trios Identifies Human Gene Knockout Patients Including 12 Patients with NPHP1 Whole Gene Deletions: SA-PO756 JA Sayer, IJ Wilson, EG Olinger Journal of the American Society of Nephrology 34 (11S), 938, 2023 | | 2023 |
| 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 |
| Prevalence and characteristics of monogenic disease in adult kidney stone formers M Anderegg, EG Olinger, M Bargagli, R Geraghty, L Pohlmeier, A Nater, ... Cold Spring Harbor Laboratory, 2023 | | 2023 |
| Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome RM Geraghty, S Orr, E Olinger, R Neatu, M Barroso-Gil, H Mabillard, ... Journal of Rare Diseases 2 (1), 9, 2023 | 2 | 2023 |
| # 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 |
| 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 |
| Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease H Mabillard, JA Sayer, E Olinger Nephrology Dialysis Transplantation 38 (2), 271-282, 2023 | 20 | 2023 |
| UMOD and you! Explaining a rare disease diagnosis H Mabillard, E Olinger, JA Sayer Journal of Rare Diseases 1 (1), 4, 2022 | 2 | 2022 |
| Monogenic Forms of Kidney Stone Disease in 800 adult Kidney Stone Formers from the Bern Kidney Stone Registry M Anderegg, E Olinger, A Schaller, L Taylor, M Bargagli, R Geraghty, ... SWISS MEDICAL WEEKLY 152, 26S-26S, 2022 | | 2022 |
| Monogenic Forms of Kidney Stone Disease in 841 Adult Kidney Stone Formers From the Bern Kidney Stone Registry: SA-PO570 MA Anderegg, EG Olinger, RM Geraghty, A Schaller, M Bargagli, ... Journal of the American Society of Nephrology 33 (11S), 761, 2022 | | 2022 |
