Ľubica Ďuďáková

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

Functional Genomics, Medicine, Natural Sciences +11

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas

Ľubica Ďuďáková, Petra Lišková, T. Trojek et al. · Experimental Eye Research · 2012 · 110 citations

Ophthalmology, Biochemistry, Keratoconus Corneas +9

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

Christina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J. Hafford‐Tear et al. · The American Journal of Human Genetics · 2018 · 90 citations · Full text

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Alice E. Davidson, Petra Lišková, Cerys J. Evans et al. · The American Journal of Human Genetics · 2015 · 78 citations · Full text

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso et al. · Journal of Medical Genetics · 2022 · 67 citations · Full text