| The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement GC Black, P Sergouniotis, A Sodi, BP Leroy, C Van Cauwenbergh, ... Orphanet Journal of Rare Diseases 16, 1-8, 2021 | 35 | 2021 |
| Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation L Mauring, LF Porter, V Pelletier, A Riehm, AS Leuvrey, A Gouronc, ... Frontiers in Genetics 11, 938, 2020 | 8 | 2020 |
| Artificial iris implantation in congenital aniridia: A systematic review D Romano, D Bremond-Gignac, M Barbany, A Rahman, L Mauring, ... Survey of ophthalmology 68 (4), 794-808, 2023 | 5 | 2023 |
| The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period E Tiivoja, K Reinson, K Muru, K Rähn, K Muhu, L Mauring, T Kahre, ... JIMD reports 63 (6), 604-613, 2022 | 4 | 2022 |
| Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene L Mauring, S Puusepp, M Parik, E Roomets, R Teek, T Reimand, ... European Journal of Medical Genetics 66 (9), 104821, 2023 | 1 | 2023 |
| Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report E Roomets, L Mauring European Journal of Ophthalmology, 11206721241254408, 2024 | | 2024 |
| Autosomal Recessive Leber's Hereditary Optic Neuropathy Caused by a Homozygous Variant in DNAJC30 Gene in Two Unrelated Patients L Mauring, S Puusepp, M Parik, R Teek, T Reimand, S Pajusalu, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 116-116, 2024 | | 2024 |
louise F porterNIHR Clinical Lecturer in Ophthalmology, University of LiverpoolVerified email at liverpool.ac.uk
