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Genome-wide characterization of circulating metabolic biomarkers.
Karjalainen MK, Karthikeyan S, Oliver-Williams C, Sliz E, Allara E, Fung WT, Surendran P, Zhang W, Jousilahti P, Kristiansson K, Salomaa V, Goodwin M, Hughes DA, Boehnke M, Fernandes Silva L, Yin X, Mahajan A, Neville MJ, van Zuydam NR, de Mutsert R, Li-Gao R, Mook-Kanamori DO, Demirkan A, Liu J, Noordam R, Trompet S, Chen Z, Kartsonaki C, Li L, Lin K, Hagenbeek FA, Hottenga JJ, Pool R, Ikram MA, van Meurs J, Haller T, Milaneschi Y, Kähönen M, Mishra PP, Joshi PK, Macdonald-Dunlop E, Mangino M, Zierer J, Acar IE, Hoyng CB, Lechanteur YTE, Franke L, Kurilshikov A, Zhernakova A, Beekman M, van den Akker EB, Kolcic I, Polasek O, Rudan I, Gieger C, Waldenberger M, Asselbergs FW; China Kadoorie Biobank Collaborative Group; Estonian Biobank Research Team; FinnGen; Hayward C, Fu J, den Hollander AI, Menni C, Spector TD, Wilson JF, Lehtimäki T, Raitakari OT, Penninx BWJH, Esko T, Walters RG, Jukema JW, Sattar N, Ghanbari M, Willems van Dijk K, Karpe F, McCarthy MI, Laakso M, Järvelin MR, Timpson NJ, Perola M, Kooner JS, Chambers JC, van Duijn C, Slagboom PE, Boomsma DI, Danesh J, Ala-Korpela M, Butterworth AS, Kettunen J. Karjalainen MK, et al. Among authors: hoyng cb. Nature. 2024 Apr;628(8006):130-138. doi: 10.1038/s41586-024-07148-y. Epub 2024 Mar 6. Nature. 2024. PMID: 38448586 Free PMC article.
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ. Boon CJ, et al. Among authors: hoyng cb. Br J Ophthalmol. 2007 Nov;91(11):1504-11. doi: 10.1136/bjo.2007.115659. Epub 2007 May 15. Br J Ophthalmol. 2007. PMID: 17504850 Free PMC article.
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Boon CJ, et al. Among authors: hoyng cb. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007. Am J Hum Genet. 2008. PMID: 18252232 Free PMC article.
Central areolar choroidal dystrophy.
Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. Boon CJ, et al. Among authors: hoyng cb. Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25. Ophthalmology. 2009. PMID: 19243827
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. Boon CJ, et al. Among authors: hoyng cb. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Mol Immunol. 2009. PMID: 19297022 Review.
395 results