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2023 1
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Page 1
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS. Monies D, et al. Among authors: almontashiri n. Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130284 Free PMC article.
iSCAN: An RT-LAMP-coupled CRISPR-Cas12 module for rapid, sensitive detection of SARS-CoV-2.
Ali Z, Aman R, Mahas A, Rao GS, Tehseen M, Marsic T, Salunke R, Subudhi AK, Hala SM, Hamdan SM, Pain A, Alofi FS, Alsomali A, Hashem AM, Khogeer A, Almontashiri NAM, Abedalthagafi M, Hassan N, Mahfouz MM. Ali Z, et al. Among authors: almontashiri nam. Virus Res. 2020 Oct 15;288:198129. doi: 10.1016/j.virusres.2020.198129. Epub 2020 Aug 18. Virus Res. 2020. PMID: 32822689 Free PMC article.
SARS-CoV-2 genomes from Saudi Arabia implicate nucleocapsid mutations in host response and increased viral load.
Mourier T, Shuaib M, Hala S, Mfarrej S, Alofi F, Naeem R, Alsomali A, Jorgensen D, Subudhi AK, Ben Rached F, Guan Q, Salunke RP, Ooi A, Esau L, Douvropoulou O, Nugmanova R, Perumal S, Zhang H, Rajan I, Al-Omari A, Salih S, Shamsan A, Al Mutair A, Taha J, Alahmadi A, Khotani N, Alhamss A, Mahmoud A, Alquthami K, Dageeg A, Khogeer A, Hashem AM, Moraga P, Volz E, Almontashiri N, Pain A. Mourier T, et al. Among authors: almontashiri n. Nat Commun. 2022 Feb 1;13(1):601. doi: 10.1038/s41467-022-28287-8. Nat Commun. 2022. PMID: 35105893 Free PMC article.
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Almannai M, Aldehaimi A, Peake RWA, Almontashiri NAM. Almannai M, et al. Among authors: almontashiri nam. Clin Chem. 2021 Jan 8;67(1):327-330. doi: 10.1093/clinchem/hvaa151. Clin Chem. 2021. PMID: 33418581 No abstract available.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: almontashiri na. J Med Genet. 2022 Jul 5:jmedgenet-2022-108475. doi: 10.1136/jmedgenet-2022-108475. Online ahead of print. J Med Genet. 2022. PMID: 35790350
44 results