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L. Dudakova · SciRah

Researcher profile · Semantic Scholar

L. Dudakova

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L. Dudakova — researcher profile on SciRah

h-index: 18
Works: 103
Citations: 1,264

Most-cited papers

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2020Genetics in Medicine125 citations Open access
Semantic Scholar
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
C. Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J. Hafford Tear, Pontus Klein +14 more
2018American Journal of Human Genetics88 citations Open access
Semantic Scholar
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
A. Hardcastle, Petra Liskova, Y. Bykhovskaya, Bennet J. McComish +58 more
2021Communications Biology85 citations Open access
Semantic Scholar
Axenfeld-Rieger syndrome: more than meets the eye
Linda M. Reis, M. Maheshwari, Jenina E. Capasso, H. Atilla +23 more
2022Journal of Medical Genetics73 citations Open access
Semantic Scholar
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
A. Davidson, P. Lišková, Cerys J. Evans, L. Dudakova +22 more
2015American Journal of Human Genetics72 citations Open access
Semantic Scholar
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
P. Lišková, L. Dudakova, Cerys J. Evans, Karla E. Rojas López +13 more
2018American Journal of Human Genetics52 citations Open access
Semantic Scholar
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. Stránecký +3 more
2015European Journal of Human Genetics35 citations Open access
Semantic Scholar
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
Cerys J. Evans, P. Lišková, L. Dudakova, P. Hrabcikova +6 more
2015Annals of Human Genetics32 citations
Semantic Scholar
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
P. Lišková, Cerys J. Evans, A. Davidson, M. Zaliova +8 more
2015European Journal of Human Genetics31 citations Open access
Semantic Scholar
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, N. Weisschuh, A. Garanto, Adrian Dockery +46 more
2023HGG advances30 citations Open access
Semantic Scholar
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
Linda M. Reis, E. Sorokina, L. Dudakova, J. Moravíková +13 more
2021Human Molecular Genetics23 citations Open access
Semantic Scholar
Replication of SNP associations with keratoconus in a Czech cohort
P. Lišková, L. Dudakova, A. Křepelová, J. Kléma +1 more
2017PLoS ONE23 citations Open access
Semantic Scholar
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, L. Huna +6 more
2019Acta ophthalmologica22 citations
Semantic Scholar
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. Gaillyová, M. Hejtmankova +3 more
2016Graefe's Archive for Clinical and Experimental Ophthalmology21 citations
Semantic Scholar
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas.
L. Dudakova, T. Sasaki, P. Lišková, M. Palos +1 more
2016Histology and Histopathology19 citations
Semantic Scholar
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
C. Zarouchlioti, S. Efthymiou, S. Facchini, N. Dominik +17 more
2024EBioMedicine17 citations Open access
Semantic Scholar
Macular corneal dystrophy and associated corneal thinning
L. Dudakova, M. Palos, M. Svobodová, J. Bydžovský +5 more
2014Eye17 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
N. Bhattacharyya, Niuzheng Chai, Nathaniel J. Hafford-Tear, A. Sadan +17 more
2024bioRxiv16 citations Open access
Semantic Scholar
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
Cerys J. Evans, L. Dudakova, P. Skalicka, G. Mahelková +4 more
2018BMC Ophthalmology15 citations Open access
Semantic Scholar
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
Siyin Liu, A. Sadan, N. Bhattacharyya, C. Zarouchlioti +18 more
2024medRxiv14 citations Open access
Semantic Scholar
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation
P. Lišková, L. Dudakova, V. Tesar, V. Bednarova +4 more
2014Ophthalmic Research14 citations
Semantic Scholar
Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA
L. Dudakova, M. Palos, A. Hardcastle, P. Lišková
2014Ophthalmic Genetics14 citations Open access
Semantic Scholar
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts
L. Dudakova, V. Stránecký, O. Ulmanová, E. Hlavova +3 more
2017Molecular Biology Reports13 citations
Semantic Scholar
OPA1 analysis in an international series of probands with bilateral optic atrophy
P. Lišková, M. Tesařová, L. Dudakova, Š. Švecová +4 more
2016Acta ophthalmologica12 citations Open access
Semantic Scholar
Is copper imbalance an environmental factor influencing keratoconus development?
L. Dudakova, P. Lišková, K. Jirsova
2015Medical Hypotheses12 citations
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
P. Skalicka, L. Porter, K. Brejchova, F. Malinka +2 more
2020Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia9 citations Open access
Semantic Scholar
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
L. Dudakova, Cerys J. Evans, Nikolas Pontikos, Nathaniel J. Hafford-Tear +13 more
2019Experimental Eye Research9 citations
Semantic Scholar
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
R. Hitti-Malin, Daan M. Panneman, Z. Corradi, E. Boonen +56 more
2024Biomolecules8 citations Open access
Semantic Scholar
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma
J. Jedlickova, M. Vajter, Tomáš Bárta, G. Black +6 more
2023Clinical Genetics8 citations Open access
Semantic Scholar
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
V. Berry, Nikolas Pontikos, L. Dudakova, A. Moore +3 more
2020Ophthalmic Genetics8 citations Open access
Semantic Scholar
CUGC for posterior polymorphous corneal dystrophy (PPCD)
Alice E. Davidson, Nathaniel J. Hafford-Tear, L. Dudakova, A. Sadan +4 more
2019European Journal of Human Genetics8 citations Open access
Semantic Scholar
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
J. Moravíková, T. Honzík, Eva Jadvidžáková, K. Zdráhalová +4 more
2020Journal of AAPOS7 citations
Semantic Scholar
[Blepharophimosis-ptosis-epicanthus inversus syndrome].
P. Lišková, L. Dudakova, P. Diblík
2018Czech and Slovak Ophthalmology7 citations
Semantic Scholar
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient
L. Dudakova, M. Palos, K. Jirsova, P. Skalicka +2 more
2016Ophthalmic Genetics7 citations
Semantic Scholar
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease
M. Trková, M. Hynek, L. Dudakova, V. Bečvářová +4 more
2016American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
B. Kousal, L. Hlavatá, H. Vlášková, L. Dvořáková +6 more
2021Genes6 citations Open access
Semantic Scholar
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2019bioRxiv6 citations Open access
Semantic Scholar
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.
Marcos Abreu Costa, A. Sadan, N. Bhattacharyya, Niuzheng Chai +12 more
2025Genetics in Medicine5 citations Open access
Semantic Scholar
Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights
Petra Liskova, P. Skalicka, L. Dudakova, A. Vincent
2025Clinical and Experimental Ophthalmology5 citations Open access
Semantic Scholar
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy
P. Lišková, Nathaniel J. Hafford-Tear, P. Skalicka, F. Malinka +5 more
2022Acta ophthalmologica5 citations Open access
Semantic Scholar
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
L. Dudakova, V. Stránecký, L. Piherová, T. Paleček +6 more
2021Genes5 citations Open access
Semantic Scholar
Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants
M. Batkova, M. Havlovicová, A. Nocar, L. Dudakova +3 more
2024BMC Oral Health4 citations Open access
Semantic Scholar
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
L. Dudakova, P. Skalicka, O. Ulmanová, M. Hložánek +4 more
2020Journal of Ophthalmology4 citations Open access
Semantic Scholar
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3
L. Dudakova, P. Skalicka, A. Davidson, P. Lišková
2019Cornea4 citations Open access
Semantic Scholar
[Preimplantation genetic diagnosis and monogenic inherited eye diseases].
L. Hlavatá, L. Dudakova, M. Trková, I. Soldatova +3 more
2018Czech and Slovak Ophthalmology4 citations
Semantic Scholar
Analysis of KERA in four families with cornea plana identifies two novel mutations
L. Dudakova, Jang Hee J Vercruyssen, I. Balikova, Lavina Postolache +3 more
2018Acta ophthalmologica4 citations
Semantic Scholar
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients
A. Stadnikova, L. Dudakova, P. Skalicka, Z. Valenta +2 more
2017PLoS ONE4 citations Open access
Semantic Scholar
Copper in Keratoconic Corneas.
L. Dudakova, Cerys J. Evans, P. Lišková
2017Cornea4 citations
Semantic Scholar

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