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Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Lorés-Motta L, Paun CC, Corominas J, Pauper M, Geerlings MJ, Altay L, Schick T, Daha MR, Fauser S, Hoyng CB, den Hollander AI, de Jong EK. Lorés-Motta L, et al. Among authors: corominas j. Ophthalmology. 2018 Jul;125(7):1064-1074. doi: 10.1016/j.ophtha.2017.12.023. Epub 2018 Feb 2. Ophthalmology. 2018. PMID: 29398083 Free article.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI. Corominas J, et al. Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26. Ophthalmology. 2018. PMID: 29706360 Free PMC article.
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.
Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I. Lorés-Motta L, et al. Among authors: corominas j. JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019. JAMA Ophthalmol. 2018. PMID: 29852030 Free PMC article.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A, den Hollander AI. Ratnapriya R, et al. Among authors: corominas j. Hum Mol Genet. 2020 Jul 29;29(12):2022-2034. doi: 10.1093/hmg/ddaa057. Hum Mol Genet. 2020. PMID: 32246154 Free PMC article.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K, Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A, Galesloot TE, Kiemeney LALM, Buitelaar JK, Ramos-Quiroga JA, Cormand B, Ribasés M, Hveem K, Gabrielsen ME, Hoffmann P, Cichon S, Haavik J, Johansson S, Jacob CP, Romanos M, Franke B, Lesch KP. Corominas J, et al. Mol Psychiatry. 2020 Sep;25(9):2047-2057. doi: 10.1038/s41380-018-0210-6. Epub 2018 Aug 16. Mol Psychiatry. 2020. PMID: 30116028 Free PMC article.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: corominas j. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. Fadaie Z, et al. Among authors: corominas j. J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910932
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. Among authors: corominas j. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 Free PMC article.
161 results