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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: crystal rg. 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.
Point-of-care whole-exome sequencing of idiopathic male infertility.
Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, Syed N, Mezey JG, Abi Khalil C, Malek JA, Al-Ansari A, Al Said S, Crystal RG. Fakhro KA, et al. Among authors: crystal rg. Genet Med. 2018 Nov;20(11):1365-1373. doi: 10.1038/gim.2018.10. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790874 Free article.
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
Fakhro KA, Robay A, Rodrigues-Flores JL, Mezey JG, Al-Shakaki AA, Chidiac O, Stadler D, Malek JA, Imam AB, Sheikh A, Azzam A, Janahi I, Khanjar I, Osman K, Ziki MA, Mahmah MA, Selim M, Numeiri N, Ali R, Lakhani S, Butt F, Omran TB, Crystal RG. Fakhro KA, et al. Among authors: crystal rg. Hum Mol Genet. 2019 Dec 1;28(23):3970-3981. doi: 10.1093/hmg/ddz134. Hum Mol Genet. 2019. PMID: 31625567
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, Ata M, Aamer W, Prosser D, Habib T, Chin-Smith E, Al-Darwish K, Zhang Q, Al-Shakaki A, Robay A, Crystal RG, Fakhro K, Al-Naimi A, Al Maslamani E, Tuffaha A, Janahi I, Janahi M, Love DR, Karim MY, Lo B, Hassan A, Adeli M, Marr N. Guennoun A, et al. Among authors: crystal rg. J Clin Immunol. 2021 Nov;41(8):1839-1852. doi: 10.1007/s10875-021-01115-2. Epub 2021 Aug 24. J Clin Immunol. 2021. PMID: 34427831 Free PMC article.
The Qatar genome: a population-specific tool for precision medicine in the Middle East.
Fakhro KA, Staudt MR, Ramstetter MD, Robay A, Malek JA, Badii R, Al-Marri AA, Abi Khalil C, Al-Shakaki A, Chidiac O, Stadler D, Zirie M, Jayyousi A, Salit J, Mezey JG, Crystal RG, Rodriguez-Flores JL. Fakhro KA, et al. Among authors: crystal rg. Hum Genome Var. 2016 Jun 30;3:16016. doi: 10.1038/hgv.2016.16. eCollection 2016. Hum Genome Var. 2016. PMID: 27408750 Free PMC article.
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
Yousri NA, Fakhro KA, Robay A, Rodriguez-Flores JL, Mohney RP, Zeriri H, Odeh T, Kader SA, Aldous EK, Thareja G, Kumar M, Al-Shakaki A, Chidiac OM, Mohamoud YA, Mezey JG, Malek JA, Crystal RG, Suhre K. Yousri NA, et al. Among authors: crystal rg. Nat Commun. 2018 Jan 23;9(1):333. doi: 10.1038/s41467-017-01972-9. Nat Commun. 2018. PMID: 29362361 Free PMC article.
Copy number variations in the genome of the Qatari population.
Fakhro KA, Yousri NA, Rodriguez-Flores JL, Robay A, Staudt MR, Agosto-Perez F, Salit J, Malek JA, Suhre K, Jayyousi A, Zirie M, Stadler D, Mezey JG, Crystal RG. Fakhro KA, et al. Among authors: crystal rg. BMC Genomics. 2015 Oct 22;16:834. doi: 10.1186/s12864-015-1991-5. BMC Genomics. 2015. PMID: 26490036 Free PMC article.
908 results