Karolina Kaminska
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Explore the profile of Karolina Kaminska including associated specialties, affiliations and a list of published articles.
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33
Citations
104
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Corral-Serrano J, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, et al.
Hum Mol Genet
. 2025 Mar;
PMID: 40037334
Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the identification of genes associated with IRDs, many individuals and families still have...
3.
Quinodoz M, Iglesias-Romero A, Cancellieri F, Kaminska K, Scholl H, Pfau M, et al.
Adv Exp Med Biol
. 2025 Feb;
1468:57-62.
PMID: 39930173
Stargardt disease (STGD1) is an inherited retinal dystrophy that follows an autosomal recessive inheritance in which photoreceptors degenerate, leading to progressive vision loss that starts from the central retina. The...
4.
Pfau K, Ansari G, Michels S, Dysli C, Liakopoulos S, Burghaus-Zhang J, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):17.
PMID: 39913163
Purpose: To determine the prevalence and spatial pattern of rod and cone dysfunction in patients with pseudoxanthoma elasticum (PXE) and to correlate these with Bruch's membrane (BrM) calcification. PXE is...
5.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
6.
Karali M, Garcia-Garcia G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39672920
The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been...
7.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger J, Audo I, et al.
Nat Commun
. 2024 Nov;
15(1):10096.
PMID: 39572588
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism....
8.
Pretot D, Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, et al.
Graefes Arch Clin Exp Ophthalmol
. 2024 Oct;
263(2):379-385.
PMID: 39394491
Purpose: To measure the retinal oxygen metabolic function with retinal oximetry (RO) in patients with choroideremia (CHM) and compare these findings with retinitis pigmentosa (RP) patients and controls. Methods: Prospective...
9.
Kaminska K, Hodgekins J, Lewis J, Cardinal R, Oduola S
Soc Psychiatry Psychiatr Epidemiol
. 2024 Sep;
PMID: 39251413
Purpose: The influence of rurality on the duration of untreated psychosis (DUP) in first-episode psychosis (FEP) is poorly understood. We investigated factors associated with FEP in rural/urban settings and whether...
10.
Iglesias-Romero A, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2299-2306.
PMID: 39226897
Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified...