The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
Petra Lišková, Ľubica Ďuďáková, Karolina Kamińska, Laura Kühlewein et autres
0 citationsHuman Genetics and Genomics Advances
Ľubica Ďuďáková
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98Publications signalées
1336Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Corneal surgery and disordersCorneal Surgery and TreatmentsRetinal Development and DisordersGlaucoma and retinal disordersConnexins and lens biology
Publications récentes
Bioenergetic dysfunction and inflammation in hiPSC-derived astrocytes from m.14484T>C Leber’s Hereditary Optic Neuropathy
Wyn Firth, Ľubica Ďuďáková, Robert Dobrovolný, Tomáš Honzík et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Targeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation
Poulami Banik, Felix Zimmann, Prasoon K. Thakur, Ľubica Ďuďáková et autres
0 citationsMolecular Therapy
Genetic Prediction of Keratoplasty in Fuchs Endothelial Corneal Dystrophy
Siyin Liu, Anita Szabo, Christina Zarouchlioti, Nihar Bhattacharyya et autres
0 citationsOphthalmology
Fuchs Endothelial Corneal Dystrophy: Genetic, Demographic And Phenotypic Correlations
Amanda N. Sadan, Anita Szabó, Nihar Bhattacharyya, Christina Zarouchlioti et autres
0 citationsESCRS Abstracts
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy
Abigail R. Moye, Caitlyn L. McCafferty, Siying Lin, Ji Hoon Han et autres
1 citationThe American Journal of Human Genetics
Integrated monogenic and polygenic risk predicts disease progression in Fuchs endothelial corneal dystrophy
Siyin Liu, Anita Szabó, Christina Zarouchlioti, Nihar Bhattacharyya et autres
0 citationsmedRxiv
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants
Asmaa Kenawy Amin, Shahira Mahmoud, Mohamed Bahgat Goweida, Asmaa Eisa Ghazy et autres
0 citationsFigshare
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants
Asmaa Kenawy Amin, Shahira Mahmoud, Mohamed Bahgat Goweida, Asmaa Eisa Ghazy et autres
0 citationsFigshare
Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants
Amin Am, Shahira Mahmoud, Mohamed Bahgat Goweida, A. Ghazy et autres
0 citationsOphthalmic Genetics
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres
14 citationsNature Genetics
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy
Marcos Abreu Costa, Amanda N. Sadan, Nihar Bhattacharyya, Niuzheng Chai et autres
2 citationsGenetics in Medicine
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