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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: altalbishi a. 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.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: altalbishi a. NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8. NPJ Genom Med. 2021. PMID: 34188062 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. Among authors: altalbishi a. 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.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M. Daich Varela M, et al. Among authors: altalbishi a. Am J Ophthalmol. 2023 Feb;246:107-121. doi: 10.1016/j.ajo.2022.09.002. Epub 2022 Sep 12. Am J Ophthalmol. 2023. PMID: 36099972 Free PMC article.
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