Petra Liskova
Univerzita Karlova
H-index: 30
Europe-Czech Republic
Top articles of Petra Liskova
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes | Biomolecules | Rebekkah J Hitti-Malin Daan M Panneman Zelia Corradi Erica GM Boonen Galuh Astuti | 2024/3/19 |
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence | Human Molecular Genetics | Sweetu Susan Sunny Jitka Lachova Petr Kasparek Marcela Palkova Frantisek Spoutil | 2024/3/15 |
Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1 | American journal of ophthalmology | Karynne Patterson Jessica X Chong Doug D Chung Walter Lisch Carol L Karp | 2024/2/1 |
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis | JAMA ophthalmology | Stéphanie S Cornelis Joanna IntHout Esmee H Runhart Olivier Grunewald Siying Lin | 2024/4/11 |
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy | Human Mutation | Lubica Dudakova Lenka Noskova Stanislav Kmoch Martin Filipec Ales Filous | 2024/1/4 |
Tissue-Specific Dynamics of TCF4 Triplet Repeat Instability Revealed by Optical Genome Mapping | bioRxiv | Christina Zarouchlioti Stephanie Efthymiou Stefano Fracchini Natalia Dominik Nihar Bhattacharyya | 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 | Andrea Vergaro Monika Pankievic Jana Jedlickova Lubica Dudakova Marie Vajter | 2024/3/27 |
Axenfeld-Rieger syndrome: more than meets the eye | Journal of medical genetics | Linda M Reis Mohit Maheshwari Jenina Capasso Huban Atilla Lubica Dudakova | 2023/4/1 |
Prevalence of posterior polymorphous corneal dystrophy type 3 in the Czech population | Investigative Ophthalmology & Visual Science | Petra Liskova Jana Jedlickova Alice E Davidson Nathaniel J Hafford-Tear Lubica Dudakova | 2023/6/1 |
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability | Human Genetics and Genomics Advances | Zelia Corradi Mubeen Khan Rebekkah Hitti-Malin Ketan Mishra Laura Whelan | 2023/10/12 |
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease | bioRxiv | Nihar Bhattacharyya Niuzheng Chai Nathaniel J Hafford-Tear Amanda N Sadan Anita Szabo | 2023/3/29 |
Mendelian Randomization analyses identify environmental factors that influence keratoconus risk | Investigative Ophthalmology & Visual Science | Pirro G Hysi Alice E Davidson Petra Liskova Paul N Baird Kathryn P Burdon | 2023/6/1 |
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma | Clinical Genetics | Jana Jedlickova Marie Vajter Tomas Barta Graeme CM Black Rahat Perveen | 2023/10 |
Light-Responsive MicroRNAs in Human Retinal Tissue are Differentially Regulated by Distinct Wavelengths of Light | bioRxiv | Canan Celiker Kamila Weissová Kateřina Amruz Černá Jan Oppelt Jana Šebestíková | 2023/2/12 |
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes | Frontiers in Genetics | Tereza Rákosníková Silvie Kelifová Hana Štufková Kateřina Lokvencová Petra Lišková | 2023/5/18 |
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy | Acta Ophthalmologica | Siyin Liu Amanda N Sadan Kirithika Muthusamy Christina Zarouchlioti Jana Jedlickova | 2023/9 |
Confirmation of the MIR204 n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and … | medRxiv | J Jedlickova M Vajter T Barta G Black J Mares | 2023/2/11 |
Application of diagnostic criteria for optic neuritis–Authors' reply | The Lancet Neurology | Axel Petzold Yaou Liu Clare Fraser Mathias Abegg Raed Alroughani | 2023/5/1 |
Light-responsive microRNA molecules in human retinal organoids are differentially regulated by distinct wavelengths of light | Iscience | Canan Celiker Kamila Weissova Katerina Amruz Cerna Jan Oppelt Birthe Dorgau | 2023/7/21 |
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data | medRxiv | Valentina Cipriani Letizia Vestito Emma F Magavern Julius OB Jacobsen Gavin Arno | 2023 |
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