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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: balikova i. 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.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Among authors: balikova i. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 Free PMC article.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: balikova i. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. Almoallem B, et al. Among authors: balikova i. Sci Rep. 2020 Jan 28;10(1):1289. doi: 10.1038/s41598-019-57338-2. Sci Rep. 2020. PMID: 31992737 Free PMC article.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F. Ascari G, et al. Among authors: balikova i. Hum Mutat. 2020 May;41(5):998-1011. doi: 10.1002/humu.23993. Epub 2020 Feb 12. Hum Mutat. 2020. PMID: 31999394 Free PMC article.
Three cases of molecularly confirmed Knobloch syndrome.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M. Balikova I, et al. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. Ophthalmic Genet. 2020. PMID: 32178553
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, de Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF. Nguyen XT, et al. Among authors: balikova i. Retina. 2021 Jan 1;41(1):213-223. doi: 10.1097/IAE.0000000000002808. Retina. 2021. PMID: 32301896
48 results