| Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome M Ołdak, D Oziębło, A Pollak, I Stępniak, M Lazniewski, U Lechowicz, ... Journal of translational medicine 15, 1-13, 2017 | 44 | 2017 |
| Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe A Ścieżyńska, D Oziębło, AM Ambroziak, M Korwin, K Szulborski, ... Experimental eye research 145, 93-99, 2016 | 39 | 2016 |
| Fuchs endothelial corneal dystrophy: strong association with rs613872 not paralleled by changes in corneal endothelial TCF4 mRNA level M Ołdak, E Ruszkowska, M Udziela, D Oziębło, E Bińczyk, A Ścieżyńska, ... BioMed research international 2015, 2015 | 31 | 2015 |
| Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement D Oziębło, J Pazik, I Stępniak, H Skarżyński, M Ołdak Genes 11 (9), 1060, 2020 | 18 | 2020 |
| Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss M Ołdak, U Lechowicz, A Pollak, D Oziębło, H Skarżyński Journal of translational medicine 17, 1-6, 2019 | 16 | 2019 |
| First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene D Oziębło, A Sarosiak, ML Leja, BS Budde, G Tacikowska, N Di Donato, ... Journal of Translational Medicine 17, 1-7, 2019 | 14 | 2019 |
| Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants D Oziębło, A Obrycka, A Lorens, H Skarżyński, M Ołdak Journal of Clinical Medicine 9 (1), 228, 2020 | 12 | 2020 |
| Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases J Reurink, A Dockery, D Oziębło, GJ Farrar, M Ołdak, JB Ten Brink, ... International journal of molecular sciences 22 (12), 6419, 2021 | 7 | 2021 |
| Functional Polymorphism of MMP9 and BDNF as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A … M Matusiak, D Oziębło, A Obrycka, M Ołdak, L Kaczmarek, P Skarżyński, ... Trends in Hearing 25, 23312165211002140, 2021 | 7 | 2021 |
| Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease D Oziębło, ML Leja, A Jeznach, M Orzechowska, T Skirecki, ... Frontiers in Immunology 13, 904632, 2022 | 6 | 2022 |
| Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss D Oziębło, SY Lee, ML Leja, A Sarosiak, N Bałdyga, H Skarżyński, Y Kim, ... Human Genetics 141 (3), 445-453, 2022 | 6 | 2022 |
| TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss D Oziębło, ML Leja, M Lazniewski, A Sarosiak, G Tacikowska, ... Scientific Reports 11 (1), 10300, 2021 | 6 | 2021 |
| Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants A Sarosiak, M Udziela, A Ścieżyńska, D Oziębło, A Wawrzynowska, ... Graefe's Archive for Clinical and Experimental Ophthalmology 256, 2127-2134, 2018 | 6 | 2018 |
| Association of MYH9 rs3752462 and rs5756168 polymorphisms with transplanted kidney artery stenosis J Pazik, Z Lewandowski, M Oldak, D Oziębło, AP Ptasinska, A Sadowska, ... Transplantation Proceedings 48 (5), 1561-1565, 2016 | 6 | 2016 |
| Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss U Lechowicz, A Pollak, D Oziębło, M Ołdak European Archives of Oto-Rhino-Laryngology 273, 1327-1328, 2016 | 6 | 2016 |
| Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment M Matusiak, D Oziębło, M Ołdak, E Rejmak, L Kaczmarek, PH Skarżyński, ... Molecular Neurobiology 59 (4), 2190-2203, 2022 | 5 | 2022 |
| High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health A Sarosiak, D Oziębło, M Udziela, C Vermeer, J Malejczyk, JP Szaflik, ... Acta Ophthalmologica 99 (2), e171-e177, 2021 | 4 | 2021 |
| Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss NS Gan, D Oziębło, H Skarżyński, M Ołdak Audiology and Neurotology 28 (5), 327-337, 2023 | 3 | 2023 |
| Searching for the Molecular Basis of Partial Deafness D Oziębło, N Bałdyga, ML Leja, H Skarżyński, M Ołdak International Journal of Molecular Sciences 23 (11), 6029, 2022 | 3 | 2022 |
| Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment L Jonard, D Brotto, MA Moreno-Pelayo, I Del Castillo, H Kremer, ... Audiology research 13 (3), 341-346, 2023 | 2 | 2023 |
