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Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML. Westrip CAE, et al. Among authors: al murshedi f. Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11. Genet Med. 2023. PMID: 37179472 Free article.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, Al Kindy A, Al Riyami N, Al Dughaishi T, Al Salmani M, Al Hashmi N, Al Shehhi M, Al Fahdi B, Al Amri S, Al-Thihli K. Bruwer Z, et al. J Community Genet. 2022 Jun;13(3):303-311. doi: 10.1007/s12687-022-00584-1. Epub 2022 Feb 18. J Community Genet. 2022. PMID: 35179721 Free PMC article.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. Broly M, et al. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196516 Free PMC article.
Further phenotypic delineation of Alazami syndrome.
Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, Al-Murshedi F, Al-Thihli K, Al-Kindi A, Al-Maawali A. Al-Hinai A, et al. Am J Med Genet A. 2022 Aug;188(8):2485-2490. doi: 10.1002/ajmg.a.62778. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567578
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S, Al-Zadjali S, Bruwer Z, Naseem SU, Al-Siyabi N, ALRawahi M, Alkharusi K, Al-Thihli K, Al-Murshedi F, AlSayegh A, Al-Maawali A, Dennison D. Al-Tamemi S, et al. Among authors: al murshedi f. J Clin Immunol. 2023 Feb;43(2):452-465. doi: 10.1007/s10875-022-01394-3. Epub 2022 Nov 3. J Clin Immunol. 2023. PMID: 36324046
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Among authors: al murshedi f. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.
48 results