Karolina Kamińska

Statistics

Publications

Citations

162

H-Index

Active since

2022

Affiliations

Institute of Molecular and Clinical Ophthalmology Basel(Current)

University of Basel

University of Leicester

University of Lausanne

Centre for Biomedical Network Research on Rare Diseases

Karolina Kamińska is an author at Institute of Molecular and Clinical Ophthalmology Basel specializing in hereditary retinal disease, genetics, and retinal disease.

ORCID

Publications per year

2022–2026

Publications

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

Virginie G. Peter, Karolina Kamińska, Cristina Santos et al. · PNAS Nexus · 2023 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Malena Daich Varela, James Bellingham, Fabiana Louise Motta et al. · Human Molecular Genetics · 2022 · 32 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Béatrice Bocquet, Caroline Borday, Nejla Erkilic et al. · JCI Insight · 2023 · 18 citations · Full text

Medicine, Genetics, Ophthalmology +17

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková et al. · medRxiv · 2025 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Ji Hoon Han, Kim Rodenburg, Tamar Hayman et al. · Genetics in Medicine · 2024 · 14 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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