Karolina Kaminska

10PUBLICATIONS
204CO-AUTHORS
Chemical and thermal processes in energy and combustionNeurology and neuromuscular diseasesGenetic immunologyGene mappingEpigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Jul 29, 2026
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

|Apr 03, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Marianthi Karali, Gema García-García, Karolina Kaminska

|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie

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Frequent Collaborators

9 joint publications

Carlo Rivolta

5 joint publications

Cristina Santos

5 joint publications

Ana-Berta Sousa

5 joint publications

Luísa Coutinho-Santos