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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: corradi z. 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.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Corradi Z, Salameh M, Khan M, Héon E, Mishra K, Hitti-Malin RJ, AlSwaiti Y, Aslanian A, Banin E, Brooks BP, Zein WM, Hufnagel RB, Roosing S, Dhaenens CM, Sharon D, Cremers FPM, AlTalbishi A. Corradi Z, et al. Invest Ophthalmol Vis Sci. 2022 Apr 1;63(4):20. doi: 10.1167/iovs.63.4.20. Invest Ophthalmol Vis Sci. 2022. PMID: 35475888 Free PMC article.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ, Dhaenens CM, Panneman DM, Corradi Z, Khan M, den Hollander AI, Farrar GJ, Gilissen C, Hoischen A, van de Vorst M, Bults F, Boonen EGM, Saunders P; MD Study Group; Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: corradi z. Hum Mutat. 2022 Dec;43(12):2234-2250. doi: 10.1002/humu.24489. Epub 2022 Oct 31. Hum Mutat. 2022. PMID: 36259723 Free PMC article.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC article.
17 results