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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Among authors: kousal b. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
Peripapillary microcirculation in Leber hereditary optic neuropathy.
Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P. Kousal B, et al. Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26. Acta Ophthalmol. 2019. PMID: 30259673 Free article.
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Majer F, et al. Among authors: kousal b. Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729179
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: kousal b. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Rákosníková T, Kelifová S, Štufková H, Lokvencová K, Lišková P, Kousal B, Honzík T, Hansíková H, Martínek V, Tesařová M. Rákosníková T, et al. Among authors: kousal b. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.
34 results