Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas L Dudakova, P Liskova, T Trojek, M Palos, S Kalasova, K Jirsova Experimental eye research 104, 74-81, 2012 | 121 | 2012 |
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 112 | 2020 |
Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 AE Davidson, P Liskova, CJ Evans, L Dudakova, L Nosková, N Pontikos, ... The American Journal of Human Genetics 98 (1), 75-89, 2016 | 81 | 2016 |
Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity C Zarouchlioti, B Sanchez-Pintado, NJH Tear, P Klein, P Liskova, K Dulla, ... The American Journal of Human Genetics 102 (4), 528-539, 2018 | 75 | 2018 |
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus AJ Hardcastle, P Liskova, Y Bykhovskaya, BJ McComish, AE Davidson, ... Communications biology 4 (1), 266, 2021 | 55 | 2021 |
Ectopic GRHL2 expression due to non-coding mutations promotes cell state transition and causes posterior polymorphous corneal dystrophy 4 P Liskova, L Dudakova, CJ Evans, KER Lopez, N Pontikos, D Athanasiou, ... The American Journal of Human Genetics 102 (3), 447-459, 2018 | 49 | 2018 |
The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders L Dudakova, K Jirsova Journal of Neural Transmission 120, 977-982, 2013 | 47 | 2013 |
Validation of rs2956540: G> C and rs3735520: G> A association with keratoconus in a population of European descent L Dudakova, M Palos, K Jirsova, V Stranecky, A Krepelova, PG Hysi, ... European Journal of Human Genetics 23 (11), 1581-1583, 2015 | 46 | 2015 |
The OV-TL 12/30 clone of anti-cytokeratin 7 antibody as a new marker of corneal conjunctivalization in patients with limbal stem cell deficiency K Jirsova, L Dudakova, S Kalasova, V Vesela, S Merjava Investigative ophthalmology & visual science 52 (8), 5892-5898, 2011 | 45 | 2011 |
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3 P Liskova, CJ Evans, AE Davidson, M Zaliova, L Dudakova, M Trkova, ... European Journal of Human Genetics 24 (7), 985-991, 2016 | 41 | 2016 |
Axenfeld-Rieger syndrome: more than meets the eye LM Reis, M Maheshwari, J Capasso, H Atilla, L Dudakova, S Thompson, ... Journal of medical genetics 60 (4), 368-379, 2023 | 34 | 2023 |
Replication of SNP associations with keratoconus in a Czech cohort P Liskova, L Dudakova, A Krepelova, J Klema, PG Hysi PLoS One 12 (2), e0172365, 2017 | 34 | 2017 |
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3 CJ Evans, P Liskova, L Dudakova, P Hrabcikova, A Horinek, K Jirsova, ... Annals of human genetics 79 (1), 1-9, 2015 | 33 | 2015 |
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas L Dudakova, T Sasaki, P Liskova, M Palos, K Jirsova Universidad de Murcia. Departamento de Biología Celular e Histología, 2016 | 28 | 2016 |
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants B Kousal, L Dudakova, R Gaillyova, M Hejtmankova, P Diblik, ... Graefe's Archive for Clinical and Experimental Ophthalmology 254, 1833-1839, 2016 | 24 | 2016 |
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty P Skalicka, L Dudakova, M Palos, LJ Huna, CJ Evans, G Mahelkova, ... Acta Ophthalmologica 97 (7), e987-e992, 2019 | 22 | 2019 |
Macular corneal dystrophy and associated corneal thinning L Dudakova, M Palos, M Svobodova, J Bydzovsky, L Huna, K Jirsova, ... Eye 28 (10), 1201-1205, 2014 | 17 | 2014 |
IPSC-derived corneal endothelial-like cells act as an appropriate model system to assess the impact of SLC4A11 variants on pre-mRNA splicing K Brejchova, L Dudakova, P Skalicka, R Dobrovolny, P Masek, M Putzova, ... Investigative Ophthalmology & Visual Science 60 (8), 3084-3090, 2019 | 16 | 2019 |
Is copper imbalance an environmental factor influencing keratoconus development? L Dudakova, P Liskova, K Jirsova Medical Hypotheses 84 (5), 518-524, 2015 | 14 | 2015 |
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis L Dudakova, CJ Evans, N Pontikos, NJ Hafford-Tear, F Malinka, ... Experimental eye research 182, 160-166, 2019 | 12 | 2019 |