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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2013 2
2014 3
2015 6
2016 7
2017 7
2018 6
2019 6
2020 6
2021 6
2022 4
2023 4
2024 2

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49 results

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Page 1
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: dudakova l. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: dudakova l. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
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. Khan M, et al. Among authors: dudakova l. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P. Liu S, et al. Among authors: dudakova l. Acta Ophthalmol. 2023 Sep;101(6):679-686. doi: 10.1111/aos.15654. Epub 2023 Mar 7. Acta Ophthalmol. 2023. PMID: 36883248
Copper in Keratoconic Corneas.
Dudakova L, Evans CJ, Liskova P. Dudakova L, et al. Cornea. 2017 Apr;36(4):e14. doi: 10.1097/ICO.0000000000001155. Cornea. 2017. PMID: 28129298 No abstract available.
CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P. Davidson AE, et al. Among authors: dudakova l. Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14. Eur J Hum Genet. 2020. PMID: 31201376 Free PMC article.
Novel disease-causing variants and phenotypic features of X-linked megalocornea.
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. Dudakova L, et al. Acta Ophthalmol. 2022 Jun;100(4):431-439. doi: 10.1111/aos.15022. Epub 2021 Oct 13. Acta Ophthalmol. 2022. PMID: 34644435 Free article.
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Skalicka P, et al. Among authors: dudakova l. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun;164(2):183-188. doi: 10.5507/bp.2019.017. Epub 2019 Apr 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31025659 Free article. Review.
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.
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. Dudakova L, et al. Stem Cell Rev Rep. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y. Stem Cell Rev Rep. 2018. PMID: 29134474 No abstract available.
49 results