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Page 1
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.
Devadoss Gandhi G, Aliyev E, Syed N, Vempalli FR, Saad C, Mbarek H, Al-Saei O, Al-Maraghi A, Abdi M, Krishnamoorthy N, Badii R; Qatar Genome Program Research Consortium; Akil AA, Ben-Omran T, Fakhro KA. Devadoss Gandhi G, et al. Among authors: fakhro ka. Genet Med. 2024 Dec;26(12):101268. doi: 10.1016/j.gim.2024.101268. Epub 2024 Sep 14. Genet Med. 2024. PMID: 39286960 Free article.
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, Shah F, Khwaja S, Jan A, Khan N, Kamal MA, Alam Q, Abbas S, Farman S, Waqas A, Alkathiri A, Hamadi A, Santoni F, Ullah N, Khalid B, Antonarakis SE, Fakhro KA, Umair M, Ansar M. Paracha SA, et al. Among authors: fakhro ka. Front Med (Lausanne). 2024 Aug 30;11:1424753. doi: 10.3389/fmed.2024.1424753. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39281811 Free PMC article.
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: fakhro ka. Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6. Genome Med. 2024. PMID: 38584274 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: fakhro ka. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
60 results