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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA. Mustafa AE, et al. Among authors: al mubarak br. Genes (Basel). 2018 May 22;9(5):267. doi: 10.3390/genes9050267. Genes (Basel). 2018. PMID: 29789446 Free PMC article.
Parkinson's Disease in Saudi Patients: A Genetic Study.
Al-Mubarak BR, Bohlega SA, Alkhairallah TS, Magrashi AI, AlTurki MI, Khalil DS, AlAbdulaziz BS, Abou Al-Shaar H, Mustafa AE, Alyemni EA, Alsaffar BA, Tahir AI, Al Tassan NA. Al-Mubarak BR, et al. PLoS One. 2015 Aug 14;10(8):e0135950. doi: 10.1371/journal.pone.0135950. eCollection 2015. PLoS One. 2015. PMID: 26274610 Free PMC article. Clinical Trial.
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
Bohlega SA, Al-Mubarak BR, Alyemni EA, Abouelhoda M, Monies D, Mustafa AE, Khalil DS, Al Haibi S, Abou Al-Shaar H, Faquih T, El-Kalioby M, Tahir AI, Al Tassan NA. Bohlega SA, et al. Among authors: al mubarak br. BMC Res Notes. 2016 Jun 7;9:295. doi: 10.1186/s13104-016-2102-7. BMC Res Notes. 2016. PMID: 27268037 Free PMC article.
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N. Al-Mubarak B, et al. Sci Rep. 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1. Sci Rep. 2017. PMID: 28720891 Free PMC article.
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.
Al-Mubarak BR, Omar A, Baz B, Al-Abdulaziz B, Magrashi AI, Al-Yemni E, Jabaan A, Monies D, Abouelhoda M, Abebe D, Ghaziuddin M, Al-Tassan NA. Al-Mubarak BR, et al. Eur J Hum Genet. 2020 Aug;28(8):1098-1110. doi: 10.1038/s41431-020-0619-7. Epub 2020 Apr 1. Eur J Hum Genet. 2020. PMID: 32238911 Free PMC article.
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