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2020 1
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Page 1
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA. Aamer W, et al. Among authors: al maraghi a. Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6. Genome Med. 2024. PMID: 38584274 Free PMC article.
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M; Qatar Genome Program Research Consortium (QGPRC); Mifsud B, Mokrab Y, Abi Khalil C, Fakhro KA. Gandhi GD, et al. Among authors: al maraghi a. J Transl Med. 2022 Nov 3;20(1):502. doi: 10.1186/s12967-022-03697-w. J Transl Med. 2022. PMID: 36329474 Free PMC article.
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
Hassan K, Robay A, Al-Maraghi A, Nimeri N, Azzam AB, Al Shakaki A, Hamid E, Crystal RG, Fakhro KA. Hassan K, et al. Among authors: al maraghi a. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006103. doi: 10.1101/mcs.a006103. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 34815247 Free PMC article.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: al maraghi a. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.