References
- van Nimwegen KJM, Schieving JH, Willemsen MAA, Veltman JA, van der Burg S, van der Wilt GJ, et al. The diagnostic pathway in complex paediatric neurology: A cost analysis. Eur J Paediatr Neurol. 2015; 19(2): 233-239.
- Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016; 6(2): 164-176.
- Kong S, Lee I, Liu X, Hirschhorn JN, Mandl KD. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018; 20(12): 1617-1626.
- Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al., Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010; 42(1): 30-35.
- el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, Sulaimani R, al-Meshari AA. Consanguinity among the Saudi Arabian population. J Med Genet. 1995; 32(8): 623-626.
- al Husain M, al Bunyan M. Consanguineous marriages in a Saudi population and the effect of inbreeding on prenatal and postnatal mortality. Ann Trop Paediatr. 1997; 17(2): 155-160.
- Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, et al. Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019; 95(1): 151-159.
- Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015; 10(2): 148-161.
- Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013; 369(16): 1502-1511.
- Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014; 312(18): 1880-1887.
- Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014; 312(18): 1870-1879.
- Alfares A, Alfadhel M, Wani T, Alsahli S, Allu-haydan I, Al Mutairi F, et al. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab. 2017; 121(2): 91-95.
- Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017; 136(8): 921-939.
- Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. Orphanet J Rare Dis. 2016; 11(1): 94.
- Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, Lepage P, Ali R, et al. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin Genet. 2014; 86(2): 134-141.
- Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Bena F, et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat. 2014; 35(10): 1203-1210.
- Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al., Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American college of medical genetics and genomics. Genet Med. 2017; 19(2): 249-255.
- Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet. 2019; 104(6), 1182–1201.
- Charng W-L, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016; 9: 42.
- Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care. Clin Genet. 2016; 89(3): 275-284.
- Beaulieu CL, Majewski J, Schwartzentruber J, Samules ME, Fernandez BA, Bernier FP, et al. FORGE Canada Consortium: Outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet. 2014; 94(6): 809-817.
- Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. J Neurogenet. 2019; 33(1): 21-26.
- Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017; 19(9): 1055-1063.
- Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, schaffer AE, et al. Exome sequencing can improve diagnosis and alter patient management. Sci Trans Med. 2012; 4(138): 138ra78.
- Zhang X. Exome sequencing greatly expedites the progressive research of Mendelian diseases. Front Med. 2014; 8(1): 42-57.
- Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, et al. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015; 134(9): 967-980.