Vybrané publikace

	Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, Langrova H, Vincent AL, Dudakova L, Liskova P. Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population. Genes (Basel). 2021 Nov 18;12(11):1816.
	Dudakova L, Tuft S, Cheong SS, Skalicka P, Jedlickova J, Fichtl M, Hlozanek M, Filous A, Vaneckova M, Vincent AL, Hardcastle AJ, Davidson AE, Liskova P. Novel disease-causing variants and phenotypic features of X-linked megalocornea. Acta Ophthalmol. 2021 Oct 13. doi: 10.1111/aos.15022.
	Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Hum Mol Genet. 2021 May 27; 30(17): 1591–606.
	Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Commun Biol. 2021 Mar 1; 4(1): 266.
	Farolfi M, Cechova A, Ondruskova N, Zidkova J, Kousal B, Hansikova H, Honzik T, Liskova P. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. BMC Ophthalmol. 2021 Jun 5; 21(1): 249.
	Dudakova L, Stranecky V, Piherova L, Palecek T, Pontikos N, Kmoch S, Skalicka P, Vaneckova M, Davidson AE, Liskova P. Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. Genes (Basel). 2021 Apr 30; 12(5): 677.
	Petzold A, Albrecht P, Balcer L, Bekkers E, Brandt AU, Calabresi PA, Deborah OG, Graves JS, Green A, Keane PA, Nij Bijvank JA, Sander JW, Paul F, Saidha S, Villoslada P, Wagner SK, Yeh EA; IMSVISUAL, ERN-EYE Consortium. Artificial intelligence extension of the OSCAR-IB criteria. Ann Clin Transl Neurol. 2021 Jul; 8(7): 1528-1542.
	Nekolova J, Stepanov A, Kousal B, Stredova M, Jiraskova N. Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021 Jun 22. doi: 10.5507/bp.2021.037.
	Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Gronskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet J Rare Dis. 2021 Mar 20; 16(1): 142.
	Moravikova J, Kozmik Z, Hlavata L, Putzova M, Skalicka P, Michaelides M, Malinka F, Dudakova L, Liskova P. Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants. Folia Biol (Praha). 2020; 66(4): 123-132.
	Moravikova J, Honzik T, Jadvidzakova E, Zdrahalova K, Kremlikova Pourova R, Korbasova M, Liskova P, Dudakova L. Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications. J AAPOS. 2020 Dec; 24(6): 352.e1-352.e5.
	Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun; 164(2): 183-188.
	Buzzonetti L, Bohringer D, Liskova P, Lang S, Valente P. Keratoconus in Children: A Literature Review. Cornea. 2020; 39(12): 1592-1598.
	Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey T, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; for the ABCA4 disease consortium study group. Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. JAMA Ophthalmol. 2020; 138(10): 1035-1042.
	Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Acta Ophthalmol. 2021; 99(1): 61-68.
	Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Am J Med Genet A. 2020; 182(1): 219-223.
	Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020; 22(7): 1235-1246.
	Kelifová S, Honzík T, Tesařová M, Kousal B, Lišková P, Havránková P, Kolářová H. Dominant (Kjer’s) optic atrophy associated with mutations in OPA1 gene. Cesk Slov Neurol N. 2020; 83(1): 33-42.
	Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. Ann Hum Genet. 2020 Sep; 84(5): 380-392.
	Dudakova L, Skalicka P, Ulmanová O, Hlozanek M, Stranecky V, Malinka F, Vincent AL, Liskova P. Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. J Ophthalmol. 2020 May 10; 2020: 6807809..
	Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M. A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genet. 2020 Apr; 41(2): 131-134.
	Petzold A, Biousse V, Bursztyn L, Costello F, Crum A, Digre K, Fraser C, Fraser JA, Katz B, Jurkute N, Newman N, Lautrup-Battistini J, Lawlor M, Liskova P, Lorenz B, Malmqvist L, Peragallo J, Sibony P, Subramanian P, Rejdak R, Nowomiejska K, Touitou V, Warner J, Wegener M, Wong S, Yu-Wai-Man P, Hamann S. Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS). Neuroophthalmology. 2020 Jul 16; 44(6): 413-414.
	Kousal B, Honzík T, Hansíková H, Ondrušková N, Čechová A, Tesařová M, Stránecký V, Meliška M, Michaelides M, Lišková P. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5?-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. Folia Biol (Praha). 2019; 65(3): 134-141.
	Skalicka P, Dudakova L, Palos M, Huna LJ, Evans CJ, Mahelkova G, Meliska M, Stopka T, Tuft S, Liskova P. Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty. Acta Ophthalmol. 2019; 97(7): e987-e992.
	Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, Moosajee M, Tuft SJ, Davidson AE, Liskova P. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Invest Ophthalmol Vis Sci. 2019; 60(8): 3084-3090.
	Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG. Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study. JAMA Ophthalmol. 2019.
	Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P. CUGC for posterior polymorphous corneal dystrophy (PPCD). Eur J Hum Genet. 2020 Jan; 28(1): 126-131.
	Dudakova L, Skalicka P, Davidson AE, Liskova P. Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. Cornea. 2019; 38(6): 758-760.
	Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019.
	Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Exp Eye Res. 2019. S0014-4835(18)30789-9.
	Hafford-Tear NJ, Tsai YC, Sadan AN, Sanchez-Pintado B, Zarouchlioti C, Maher GJ, Liskova P, Tuft SJ, Hardcastle AJ, Clark TA, Davidson AE. CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. Genet Med. 2019.
	Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmol. 2019; 97(1): e71-e76.
	Kousal B., Ďuďáková Ľ., Moravíková J., Lišková P.: Vzácná oční onemocnění v oftalmologické praxi. Oftalmologie pro praxi. 2018; 7-11.
	Kremlikova Pourova R, Paderova J, Copikova J, Kousal B, Dudakova L, Liskova P. SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. J AAPOS. 2018: 1-3.
	Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet. 2018; 102(3): 447-459.
	Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P. Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. Stem Cell Rev. 2018; 14(1): 148-151.
	Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ, Liskova P. Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. BMC Ophthalmol. 2018; 18(1): 250.
	Petzold A, Balcer LJ, Calabresi PA, Costello F, Frohman TC, Frohman EM, Martinez-Lapiscina EH, Green AJ, Kardon R, Outteryck O, Paul F, Schippling S, Vermersch P, Villoslada P, Balk LJ; ERN-EYE IMSVISUAL. Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis. Lancet Neurol. 2017; 16(10): 797-812.
	Kolářová H., Honzík T., Ďuďáková Ľ., Kousal B., Kulhánek J., Diblík P., Tesařová M., Havránková P., Forgáč M., Zeman J., Lišková P.: Leberova hereditární neuropatie optiku. Cesk Slov Neurol N 2017; 80/113(5): 534-544.
	Szabó DJ, Nagymihály R, Veréb Z, Josifovska N, Noer A, Liskova P, Facskó A, Moe MC, Petrovski G. Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. Histol Histopathol. 2017: 11928.
	Dudakova L, Stranecky V, Ulmanova O, Hlavova E, Trková M, Vincent AL, Liskova P. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts. Mol Biol Rep. 2017; 44(6): 435-440.
	Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P. Analysis of KERA in four families with cornea plana identifies two novel mutations. Acta Ophthalmol. 2017; 96(1): e87-e91.
	Lišková P, Ďuďáková Ľ, Diblík P. Blepharophimosis-ptosis-epicanthus inversus syndrome. Cesk Slov Oftalmol. 2016; 72(5): 187-190.
	Hlavatá L, Ďuďáková Ľ, Trková M, Soldátová I, Skalická P, Kousal B, Lišková P. Preimplantation genetic diagnosis and monogenic inherited eye diseases. Cesk Slov Oftalmol. 2016; 72(5): 167-171.
	Dudakova L, Evans CJ, Liskova P. Copper in Keratoconic Corneas. Cornea. 2017; 36(4): e14.
	Liskova P, Dudakova L, Krepelova A, Klema J, Hysi PG. Replication of SNP associations with keratoconus in a Czech cohort. PLoS One. 2017; 12(2): e0172365.
	Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmol. 2017; 95(4): 363-369.
	Ďuďáková Ľ, Kousal B, Kolářová H, Hlavatá L, Lišková P. Gene therapy for inherited retinal and optic nerve disorders: current knowledge. Cesk Slov Oftalmol. 2016; 72(4): 128-136.
	Dudakova L, Palos M, Jirsova K, Skalicka P, Dundr P, Liskova P. Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. Ophthalmic Genet. 2016; 37(4): 473-474.
	Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. Ophthalmic Genet. 2016; 37(4): 419-423.
	Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. Am J Med Genet A. 2016; 170(7): 1843-8.
	Krepelova A, Simandlova M, Vlckova M, Kuthan P, Vincent AL, Liskova P. Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. Clin Exp Ophthalmol. 2016; 44(9): 757-762.
	Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Graefes Arch Clin Exp Ophthalmol. 2016; 254(9): 1833-9.
	Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. Am J Hum Genet. 2016; 98(1): 75-89.
	Kousal B, Ďuďáková Ľ, Hlavatá L, Lišková P. Clinical Tests Testing New Therapies for Stargardt Disease. Cesk Slov Oftalmol. 2016; 72(1): 293-7.
	Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. Eur J Hum Genet. 2016; 24(7): 985-91.
	Dudakova L, Liskova P, Jirsova K. Is copper imbalance an environmental factor influencing keratoconus development? Med Hypotheses. 2015; 84(5): 518-24.
	Dudakova L, Palos M, Jirsova K, Stranecky V, Krepelova A, Hysi PG, Liskova P. Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent. Eur J Hum Genet. 2015; 23(11): 1581-3.
	Kousal B, Záhlava J, Vejvalková Š, Hejtmánková M, Lišková P. The molecular genetic and clinical findings in two probands with Stargardt disease. Cesk Slov Oftalmol. 2014; 70(6): 228-33.
	Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ. Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. Invest Ophthalmol Vis Sci. 2015; 56(1): 578-86.
	Liskova P, Dudakova L, Tesar V, Bednarova V, Kidorova J, Jirsova K, Davidson AE, Hardcastle AJ. Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation. Ophthalmic Res. 2015; 53(1): 30-5.
	Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ. Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. Ann Hum Genet. 2015; 79(1): 1-9.
	Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene. Mol Vis. 2014; 20: 1307-17.
	Dudakova L, Palos M, Svobodova M, Bydzovsky J, Huna L, Jirsova K, Hardcastle AJ, Tuft SJ, Liskova P. Macular corneal dystrophy and associated corneal thinning. Eye (Lond). 2014; 28(10): 1201-5.
	Dudakova L, Palos M, Hardcastle AJ, Liskova P. Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. Ophthalmic Genet. 2014; 35(4): 252-4.
	Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P. Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR. Cesk Slov Oftalmol. 2013; 69(1): 8-15.
	Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013; 131(10): 1296-303.
	Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M. Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmol. 2013; 91(3): e225-31.
	Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, Webb TR, Bhattacharya SS, Ebenezer ND, Morris AG, Hardcastle AJ. High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One. 2012; 7(9): e45495.
	Tuft SJ, Hassan H, George S, Frazer DG, Willoughby CE, Liskova P. Keratoconus in 18 pairs of twins. Acta Ophthalmol. 2012; 90(6): e482-6.
	Studeny P, Jirsova K, Kuchynka P, Liskova P. Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. Indian J Ophthalmol. 2012; 60(1): 59-60.
	Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ. Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). Invest Ophthalmol Vis Sci. 2011; 52(9): 6720-8.
	Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalmic Genet. 2010; 31(4): 230-4.
	Liskova P, Colclough T, Hart-Holden N, Chakarova CF, O'Grady A, Kondrova L, Skalicka P, Diblik P, Hardcastle AJ. Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family. Acta Ophthalmol. 2011; 89(2): e213-5.
	Liskova P, Klintworth GK, Bowling BL, Filipec M, Jirsova K, Tuft SJ, Bhattacharya SS, Hardcastle AJ, Ebenezer ND. Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families. Ophthalmic Res. 2008; 40(2): 105-8.
	Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer ND, Hysi PG, Hardcastle AJ, Tuft SJ, Bhattacharya SS. Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. Br J Ophthalmol. 2008; 92(2): 265-7.
	Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis. 2007; 13: 1887-91.
	Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol. 2007; 91(12): 1717-8.
	Liskova P, Hysi PG, Williams D, Ainsworth JR, Shah S, de la Chapelle A, Tuft SJ, Bhattacharya SS. Study of p.N247S KERA mutation in a British family with cornea plana. Mol Vis. 2007; 13: 1339-47.
	Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, Prescott Q, Martincova R, Pretorius M, Sinclair N, Boase DL, Jeffrey MJ, Deloukas P, Hardcastle AJ, Filipec M, Bhattacharya SS. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat. 2007; 28(6): 638.
	Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VH, Tuft SJ, Viswanathan D, El-Ashry MF, Liskova P, Tan DT, Bhattacharya SS, Kumaramanickavel G, Vithana EN. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. Hum Mutat. 2007; 28(5): 522-3.
	Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M. Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. Am J Ophthalmol. 2007; 143(4): 663-71.
	Young RD, Akama TO, Liskova P, Ebenezer ND, Allan B, Kerr B, Caterson B, Fukuda MN, Quantock AJ. Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies. Histochem Cell Biol. 2007; 127(1): 115-20.
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