Lubica Dudakova, PhD
Univerzita Karlova
H-index: 16
Europe-Czech Republic
Top articles of Lubica Dudakova, PhD
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 |
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 |
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 |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction | Human Genetics and Genomics Advances | Janine Reurink Nicole Weisschuh Alejandro Garanto Adrian Dockery L Ingeborgh van den Born | 2023/4/13 |
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 |
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 |
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 |
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 |
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 |
Snail track a in a case with anterior segment dysgenesis caused by a novel FOXC1 variant | Acta Ophthalmologica | Jana Jedličková Pavlína Skalická Lubica Dudakova Petra Liskova | 2022/12 |
Leber congenital amaurosis and early onset severe retinal dystrophy in the Czech Republic: Mutational spectrum and clinical findings | Acta Ophthalmologica | Marie Vajter Bohdan Kousal Jana Moravikova Monika Chylova Lubica Dudakova | 2022/12 |
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy | Acta Ophthalmologica | Petra Liskova Nathaniel J Hafford‐Tear Pavlina Skalicka Frantisek Malinka Jana Jedlickova | 2022/11 |
Novel disease‐causing variants and phenotypic features of X‐linked megalocornea | Acta Ophthalmologica | Lubica Dudakova Stephen Tuft Sek‐Shir Cheong Pavlina Skalicka Jana Jedlickova | 2022/6 |
PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE. | Ceska a Slovenska Oftalmologie: Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti | A Vergaro L Rezková M Fichtl J Jedličková Ľ Ďuďáková | 2022/1/1 |
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus | Communications biology | Alison J Hardcastle Petra Liskova Yelena Bykhovskaya Bennet J McComish Alice E Davidson | 2021/3/1 |
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs … | Genes | Lubica Dudakova Pavlina Skalicka Alice E Davidson Amanda N Sadan Monika Chylova | 2021/11/29 |
Hereditary gelsolin amyloidosis-clinical symptoms and molecular genetic cause | CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE | P Skalicka L Dudakova A Klimova L Huna CJ Evans | 2021/1/1 |
Clinical and genetic study of X-linked juvenile retinoschisis in the Czech Population | Genes | Bohdan Kousal Lucia Hlavata Hana Vlaskova Lenka Dvorakova Michaela Brichova | 2021/11/18 |
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