Browse by UCL people
Group by: Type | Date
Number of items: 39.
Article
Anteneová, N;
Kelifová, S;
Kolářová, H;
Vondráčková, A;
Tóthová, I;
Lišková, P;
Magner, M;
... Honzik, T; + view all
(2020)
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Brain Sciences
, 10
(11)
, Article 766. 10.3390/brainsci10110766.
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Berry, V;
Pontikos, N;
Dudakova, L;
Moore, AT;
Quinlan, R;
Liskova, P;
Michaelides, M;
(2020)
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
Ophthalmic Genetics
, 41
(2)
pp. 131-134.
10.1080/13816810.2020.1737950.
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Bhattacharyya, Nihar;
Chai, Niuzheng;
Hafford-Tear, Nathaniel J;
Sadan, Amanda N;
Szabo, Anita;
Zarouchlioti, Christina;
Jedlickova, Jana;
... Davidson, Alice E; + view all
(2024)
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genetics
, 20
(5)
, Article e1011230. 10.1371/journal.pgen.1011230.
(In press).
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Black, GC;
Sergouniotis, P;
Sodi, A;
Leroy, BP;
Van Cauwenbergh, C;
Liskova, P;
Grønskov, K;
... Dollfus, H; + view all
(2021)
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Orphanet Journal of Rare Diseases
, 16
, Article 142. 10.1186/s13023-021-01756-x.
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Brejchova, K;
Dudakova, L;
Skalicka, P;
Dobrovolny, R;
Masek, P;
Putzova, M;
Moosajee, M;
... Liskova, P; + view all
(2019)
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Investigative Ophthalmology & Visual Science
, 60
(8)
pp. 3084-3090.
10.1167/iovs.19-26930.
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Cipriani, V;
Vestito, L;
Magavern, EF;
Jacobsen, JOB;
Arno, G;
Behr, ER;
Benson, KA;
... Smedley, D; + view all
(2025)
Rare disease gene association discovery in the 100,000 Genomes Project.
Nature
10.1038/s41586-025-08623-w.
(In press).
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Davidson, A;
(2019)
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Experimental Eye Research
, 182
pp. 160-166.
10.1016/j.exer.2019.03.002.
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Davidson, AE;
Borasio, E;
Liskova, P;
Khan, AO;
Hassan, H;
Cheetham, ME;
Plangol, V;
... Hardcastle, AJ; + view all
(2015)
Brittle Cornea Syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial Keratoconus.
Investigative Ophthalmology & Visual Science
, 56
pp. 578-586.
10.1167/iovs.14-15792.
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Davidson, AE;
Hafford-Tear, NJ;
Dudakova, L;
Sadan, AN;
Pontikos, N;
Hardcastle, AJ;
Tuft, SJ;
(2020)
CUGC for posterior polymorphous corneal dystrophy (PPCD).
European Journal of Human Genetics
, 28
pp. 126-131.
10.1038/s41431-019-0448-8.
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Davidson, AE;
Liskova, P;
Evans, CJ;
Dudakova, L;
Nosková, L;
Pontikos, N;
Hartmannová, H;
... Hardcastle, AJ; + view all
(2016)
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
American Journal of Human Genetics
, 98
(1)
pp. 75-89.
10.1016/j.ajhg.2015.11.018.
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Dudakova, L;
Tuft, S;
Cheong, S-S;
Skalicka, P;
Jedlickova, J;
Fichtl, M;
Hlozanek, M;
... Liskova, P; + view all
(2022)
Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Acta Ophthalmologica
, 100
(4)
pp. 431-439.
10.1111/aos.15022.
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Dudakova, Lubica;
Noskova, Lenka;
Kmoch, Stanislav;
Filipec, Martin;
Filous, Ales;
Davidson, Alice E;
Toulis, Vasileios;
... Liskova, Petra; + view all
(2024)
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.
Human Mutation
, 2024
, Article 4450082. 10.1155/2024/4450082.
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Dudakova, L;
Cheong, S-S;
Merjava, SR;
Skalicka, P;
Michalickova, M;
Palos, M;
Mahelkova, G;
... Liskova, P; + view all
(2018)
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.
Stem Cell Reviews and Reports
, 14
(1)
pp. 148-151.
10.1007/s12015-017-9780-y.
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Dudakova, L;
Skalicka, P;
Davidson, A;
Liskova, P;
(2019)
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.
Cornea
, 38
(6)
pp. 758-760.
10.1097/ICO.0000000000001930.
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Dudakova, L;
Stranecky, V;
Piherova, L;
Palecek, T;
Pontikos, N;
Kmoch, S;
Skalicka, P;
... Liskova, P; + view all
(2021)
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Genes
, 12
(5)
, Article 677. 10.3390/genes12050677.
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Evans, CJ;
Dudakova, L;
Skalicka, P;
Mahelkova, G;
Horinek, A;
Hardcastle, AJ;
Tuft, SJ;
(2018)
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
BMC Ophthalmology
, 18
(250)
10.1186/s12886-018-0918-8.
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Farolfi, M;
Cechova, A;
Ondruskova, N;
Zidkova, J;
Kousal, B;
Hansikova, H;
Honzik, T;
(2021)
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmology
, 21
, Article 249. 10.1186/s12886-021-02013-2.
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Hafford-Tear, NJ;
Tsai, Y-C;
Sadan, AN;
Sanchez-Pintado, B;
Zarouchlioti, C;
Maher, GJ;
Liskova, P;
... Davidson, AE; + view all
(2019)
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat.
Genetics in Medicine
10.1038/s41436-019-0453-x.
(In press).
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Hardcastle, AJ;
Liskova, P;
Bykhovskaya, Y;
McComish, BJ;
Davidson, AE;
Inglehearn, CF;
Li, X;
... Hysi, PG; + view all
(2021)
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Communications Biology
, 4
, Article 266. 10.1038/s42003-021-01784-0.
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Khawaja, AP;
Rojas Lopez, KE;
Hardcastle, AJ;
Hammond, CJ;
Liskova, P;
Davidson, AE;
Gore, DM;
... Hysi, PG; + view all
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
JAMA Ophthalmology
10.1001/jamaophthalmol.2019.2058.
(In press).
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Kousal, B;
Dudakova, L;
Gaillyova, R;
Hejtmankova, M;
Diblik, P;
Michaelides, M;
Liskova, P;
(2016)
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Graefe's Archive for Clinical and Experimental Ophthalmology
, 254
(9)
pp. 1833-1839.
10.1007/s00417-016-3358-2.
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Kousal, B;
Honzík, T;
Hansíková, H;
Ondrušková, N;
Čechová, A;
Tesařová, M;
Stránecký, V;
... Lišková, P; + view all
(2019)
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
Folia Biol (Praha)
, 65
(3)
pp. 134-141.
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Kousal, B;
Majer, F;
Vlaskova, H;
Dvorakova, L;
Piherova, L;
Meliska, M;
Langrova, H;
... Liskova, P; + view all
(2021)
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Acta Ophthalmologica
, 99
(1)
pp. 61-68.
10.1111/aos.14478.
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Liskova, P;
Hafford-Tear, NJ;
Skalicka, P;
Malinka, F;
Jedlickova, J;
Ďuďáková, Ľ;
Pontikos, N;
... Tuft, S; + view all
(2022)
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Acta Ophthalmologica
, 100
(7)
e1426-e1430.
10.1111/aos.15114.
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Liskova, P;
Dudakova, L;
Evans, CJ;
Rojas Lopez, KE;
Pontikos, N;
Athanasiou, D;
Jama, H;
... Hardcastle, AJ; + view all
(2018)
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
American Journal of Human Genetics
, 102
(3)
pp. 447-459.
10.1016/j.ajhg.2018.02.002.
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Liskova, P;
Dudakova, L;
Krepelova, A;
Klema, J;
Hysi, PG;
(2017)
Replication of SNP associations with keratoconus in a Czech cohort.
PLOS ONE
, 12
(2)
, Article e0172365. 10.1371/journal.pone.0172365.
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Liskova, P;
Gwilliam, R;
Filipec, M;
Jirsova, K;
Reinstein Merjava, S;
Deloukas, P;
Webb, TR;
... Hardcastle, AJ; + view all
(2012)
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PLoS One
, 7
(9)
, Article e45495. 10.1371/journal.pone.0045495.
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Liu, Siyin;
Sadan, Amanda N;
Muthusamy, Kirithika;
Zarouchlioti, Christina;
Jedlickova, Jana;
Pontikos, Nikolas;
Thaung, Caroline;
... Liskova, Petra; + view all
(2023)
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Acta Ophthalmologica
10.1111/aos.15654.
(In press).
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Maile, H;
Li, J-PO;
Gore, D;
Leucci, M;
Mulholland, P;
Hau, S;
Szabo, A;
... Pontikos, N; + view all
(2021)
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
JMIR Medical Informatics
, 9
(12)
, Article e27363. 10.2196/27363.
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Moravikova, J;
Kozmik, Z;
Hlavata, L;
Putzova, M;
Skalicka, P;
Michaelides, M;
Malinka, F;
... Liskova, P; + view all
(2020)
Phenotype Variability in Czech Patients Carrying PAX6
Disease-Causing Variants.
Folia Biologica
, 66
(4)
pp. 123-132.
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Petzold, A;
Albrecht, P;
Balcer, L;
Bekkers, E;
Brandt, AU;
Calabresi, PA;
Deborah, OG;
... IMSVISUAL, ERN-EYE Consortium; + view all
(2021)
Artificial intelligence extension of the OSCAR-IB criteria.
Annals of Clinical and Translational Neurology
10.1002/acn3.51320.
(In press).
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Petzold, A;
Balcer, LJ;
Calabresi, PA;
Costello, F;
Frohman, TC;
Frohman, EM;
Martinez-Lapiscina, EH;
... Balk, LJ; + view all
(2017)
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.
The Lancet Neurology
, 16
(10)
pp. 797-812.
10.1016/S1474-4422(17)30278-8.
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Petzold, A;
Biousse, V;
Bursztyn, L;
Costello, F;
Crum, A;
Digre, K;
Fraser, C;
... Hamann, S; + view all
(2020)
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).
Neuro-Ophthalmology
, 44
(6)
pp. 413-414.
10.1080/01658107.2020.1760891.
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Sergouniotis, PI;
Maxime, E;
Leroux, D;
Olry, A;
Thompson, R;
Rath, A;
Robinson, PN;
... Zrenner, E; + view all
(2019)
An ontological foundation for ocular phenotypes and rare eye diseases.
[Letter].
Orphanet Journal of Rare Diseases
, 14
, Article 8. 10.1186/s13023-018-0980-6.
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Skalicka, Pavlina;
Jedlickova, Jana;
Horinek, Ales;
Trkova, Marie;
Davidson, Alice E;
Tuft, Stephen J;
Dudakova, Lubica;
(2022)
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.
Journal of Clinical Medicine
, 11
(17)
, Article 5166. 10.3390/jcm11175166.
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Skalicka, P;
Porter, LF;
Brejchova, K;
Malinka, F;
Dudakova, L;
Liskova, P;
(2019)
Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Biomedical Papers
10.5507/bp.2019.017.
(In press).
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Vergaro, Andrea;
Pankievic, Monika;
Jedlickova, Jana;
Dudakova, Lubica;
Vajter, Marie;
Michaelides, Michel;
Meliska, Martin;
... Liskova, Petra; + view all
(2024)
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
International Journal of Molecular Sciences
, 25
(7)
, Article 3744. 10.3390/ijms25073744.
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Zarouchlioti, C;
Sanchez-Pintado, B;
Hafford Tear, NJ;
Klein, P;
Liskova, P;
Dulla, K;
Semo, M;
... Davidson, AE; + view all
(2018)
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
The American Journal of Human Genetics
, 102
(4)
pp. 528-539.
10.1016/j.ajhg.2018.02.010.
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Thesis
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Liskova, P.;
(2009)
Molecular genetic study of inherited corneal disorders.
Doctoral thesis , UCL (University College London).
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