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2011 2
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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R, Al-Dewik N, Mohammed S, Elfituri M, Agouba S, Musa S, Mahmoud L, Almulla M, El-Akouri K, Mohd H, Bux R, Almulla H, Othman A, Al-Mesaifri F, Shahbeck N, Al-Muriekhi M, Khalifa A, Al-Sulaiman R, Ben-Omran T. Ali R, et al. Am J Med Genet A. 2022 Jan;188(1):116-129. doi: 10.1002/ajmg.a.62501. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590781 Review.
Gene therapy for spinal muscular atrophy: the Qatari experience.
Ali HG, Ibrahim K, Elsaid MF, Mohamed RB, Abeidah MIA, Al Rawwas AO, Elshafey K, Almulla H, El-Akouri K, Almulla M, Othman A, Musa S, Al-Mesaifri F, Ali R, Shahbeck N, Al-Mureikhi M, Alsulaiman R, Alkaabi S, Ben-Omran T. Ali HG, et al. Gene Ther. 2021 Nov;28(10-11):676-680. doi: 10.1038/s41434-021-00273-7. Epub 2021 Jul 19. Gene Ther. 2021. PMID: 34276047 Free PMC article.
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Mahmoud L, Othman A, AlMulla M, Sulaiman RA, Musa S, Abdoh G, El-Akouri K, Solomon BD, Ben-Omran T. Al-Dewik N, et al. Mol Genet Genomic Med. 2018 Sep;6(5):702-712. doi: 10.1002/mgg3.474. Mol Genet Genomic Med. 2018. PMID: 30264509 Free PMC article.
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Al-Dewik N, Ali A, Mahmoud Y, Shahbeck N, Ali R, Mahmoud L, Al-Mureikhi M, Al-Mesaifri F, Musa S, El-Akouri K, Almulla M, Al Saadi R, Nasrallah GK, Samara M, Abdoh G, Rifai HA, Häberle J, Thöny B, Kruger W, Blom HJ, Ben-Omran T. Al-Dewik N, et al. J Inherit Metab Dis. 2019 Sep;42(5):818-830. doi: 10.1002/jimd.12099. Epub 2019 May 8. J Inherit Metab Dis. 2019. PMID: 30968424 Free article.