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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.vanNimwegen KJMSchievingJHWillemsenMAAVeltmanJAvander Burg Svander Wilt GJet alThe diagnostic pathway in complex paediatric neurology: A cost analysis201519223323910.1016/j.ejpn.2014.12.014Search in Google Scholar
Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016; 6(2): 164-176.FogelBLSatya-MurtiSCohenBHClinical exome sequencing in neurologic disease20166216417610.1212/CPJ.0000000000000239Search in Google Scholar
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.KongSLeeILiuXHirschhornJNMandlKDMeasuring coverage and accuracy of whole-exome sequencing in clinical context201820121617162610.1038/gim.2018.51Search in Google Scholar
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.NgSBBuckinghamKJLeeCBighamAWTaborHKDentKMet alExome sequencing identifies the cause of a mendelian disorder2010421303510.1038/ng.499Search in Google Scholar
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.el-HazmiMAal-SwailemARWarsyASal-SwailemAMSulaimaniRal-MeshariAAConsanguinity among the Saudi Arabian population199532862362610.1136/jmg.32.8.623Search in Google Scholar
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.alHusain MalBunyan MConsanguineous marriages in a Saudi population and the effect of inbreeding on prenatal and postnatal mortality199717215516010.1080/02724936.1997.11747879Search in Google Scholar
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.KahriziKHuHHosseiniMKalscheuerVMFattahiZBeheshtianMet alEffect of inbreeding on intellectual disability revisited by trio sequencing201995115115910.1111/cge.13463Search in Google Scholar
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.AlazamiAMPatelNShamseldinHEAnaziSAl-DosariMSAlzahraniFet alAccelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families201510214816110.1016/j.celrep.2014.12.015Search in Google Scholar
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.YangYMuznyDMReidJGBainbridgeMNWillisAWardPAet alClinical whole-exome sequencing for the diagnosis of Mendelian disorders2013369161502151110.1056/NEJMoa1306555Search in Google Scholar
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.LeeHDeignanJLDorraniNStromSPKantarciSQuintero-RiveraFet alClinical exome sequencing for genetic identification of rare Mendelian disorders2014312181880188710.1001/jama.2014.14604Search in Google Scholar
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.YangYMuznyDMXiaFNiuZPersonRDingYet alMolecular findings among patients referred for clinical whole-exome sequencing2014312181870187910.1001/jama.2014.14601Search in Google Scholar
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.AlfaresAAlfadhelMWaniTAlsahliSAllu-haydanIAlMutairi Fet alA multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield20171212919510.1016/j.ymgme.2017.04.002Search in Google Scholar
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.MoniesDAbouelhodaMAlSayedMAlhassnanZAlotaibiMKayyaliHet alThe landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes2017136892193910.1007/s00439-017-1821-8Search in Google Scholar
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.Al-ShamsiAHertecantJLSouidAKAl-JasmiFAWhole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates20161119410.1186/s13023-016-0474-3Search in Google Scholar
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.FahiminiyaSAlmuriekhiMNawazZStaffaALepagePAliRet alWhole exome sequencing unravels disease-causing genes in consanguineous families in Qatar201486213414110.1111/cge.12280Search in Google Scholar
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.MakrythanasisPNelisMSantoniFAGuipponiMVannierABenaFet alDiagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families201435101203121010.1002/humu.22617Search in Google Scholar
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.KaliaSSAdelmanKBaleSJChungWKEngCEvansJPet alRecommendations 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 genomics201719224925510.1038/gim.2016.190Search in Google Scholar
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.MoniesDAbouelhodaMAssoumMMoghrabiNRafiullahRAlmontashiriNet alLessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population201910461182120110.1016/j.ajhg.2019.04.011Search in Google Scholar
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.CharngW-LKaracaECobanAkdemir ZGambinTAtikMMGuSet alExome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate201694210.1186/s12920-016-0208-3Search in Google Scholar
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.SawyerSLHartleyTDymentDABeaulieuCLSchwartzentruberJSmithAet alUtility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care201689327528410.1111/cge.12654Search in Google Scholar
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.BeaulieuCLMajewskiJSchwartzentruberJSamulesMEFernandezBABernierFPet alFORGE Canada Consortium: Outcomes of a 2-year national rare-disease gene-discovery project201494680981710.1016/j.ajhg.2014.05.003Search in Google Scholar
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.MuWSchiessNOrthmann-MurphyJLEl-HattabAWThe utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population2019331212610.1080/01677063.2018.1555249Search in Google Scholar
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.VissersLELMvanNimwegen KJMSchievingJHKamsteegEJKleefstraTYntemaHGet alA clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology20171991055106310.1038/gim.2017.1Search in Google Scholar
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.Dixon-SalazarTJSilhavyJLUdpaNSchrothJBielasSschafferAEet alExome sequencing can improve diagnosis and alter patient management20124138138ra7810.1126/scitranslmed.3003544Search in Google Scholar
Zhang X. Exome sequencing greatly expedites the progressive research of Mendelian diseases. Front Med. 2014; 8(1): 42-57.ZhangXExome sequencing greatly expedites the progressive research of Mendelian diseases201481425710.1007/s11684-014-0303-9Search in Google Scholar
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.YavarnaTAl-DewikNAl-MureikhiMAliRAl-MesaifriFMahmoudLet alHigh diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders2015134996798010.1007/s00439-015-1575-0Search in Google Scholar