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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Iglesias-Romero AB, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, Calado J, Webster AR, Moulin A, Sousa AB, Coutinho-Santos L, Santos C, Rivolta C. Iglesias-Romero AB, et al. Among authors: kaminska k. Am J Hum Genet. 2024 Aug 28:S0002-9297(24)00291-X. doi: 10.1016/j.ajhg.2024.08.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 39226897 Free article.
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E, Szymańczak R, Stradomska K, Łyszkiewicz P, Jędrzejowska M, Kamińska K, Beć-Gajowniczek M, Suchecka E, Zagulski M, Wiącek M, Wylęgała E, Machalińska A, Mossakowska M, Puzianowska-Kuźnicka M, Teper S, Boguszewska-Chachulska A. Matczyńska E, et al. Among authors: kaminska k. Genes (Basel). 2024 Aug 1;15(8):1011. doi: 10.3390/genes15081011. Genes (Basel). 2024. PMID: 39202371 Free PMC article.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: kaminska k. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
Psilocybin in pharmacotherapy of obsessive-compulsive disorder.
Owe-Larsson M, Kamińska K, Buchalska B, Mirowska-Guzel D, Cudnoch-Jędrzejewska A. Owe-Larsson M, et al. Among authors: kaminska k. Pharmacol Rep. 2024 Oct;76(5):911-925. doi: 10.1007/s43440-024-00633-1. Epub 2024 Aug 1. Pharmacol Rep. 2024. PMID: 39088105 Free PMC article. Review.
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Calzetti G, et al. Among authors: kaminska k. Ophthalmic Res. 2024;67(1):448-457. doi: 10.1159/000540607. Epub 2024 Jul 30. Ophthalmic Res. 2024. PMID: 39079514 Free article.
202 results