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Page 1
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: el akouri k. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
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. Among authors: el akouri k. 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.
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Musa S, Al-Mulla M, Ibrahim K, Mohamed K, Al-Nesef MA, Ehlayel M, Ben-Omran T. Al-Sulaiman R, et al. Among authors: el akouri k. Am J Med Genet A. 2020 Nov;182(11):2570-2580. doi: 10.1002/ajmg.a.61829. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856792
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Shamseldin HE, et al. Among authors: el akouri k. Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28749478 Free 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. Among authors: el akouri k. 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.
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. Among authors: el akouri k. 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.
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. Among authors: el akouri k. 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.
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. Among authors: el akouri k. 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.