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Page 1
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. Abu-Safieh L, et al. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353939 Free PMC article.
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH, Alrashed M, Drad MK, Abu-Safieh L, Almobarak AA, Baz B, Farzan RA, Alsuhaibani MS, Al-Alsheikh Y. Alotaibi NH, et al. Ear Nose Throat J. 2022 Aug 5:1455613221111496. doi: 10.1177/01455613221111496. Online ahead of print. Ear Nose Throat J. 2022. PMID: 35931064 Free article.
Methylation Profiling of Medulloblastoma in a Clinical Setting Permits Sub-classification and Reveals New Outcome Predictions.
Alharbi M, Mobark N, Bashawri Y, Abu Safieh L, Alowayn A, Aljelaify R, AlSaeed M, Almutairi A, Alqubaishi F, AlSolme E, Ahmad M, Al-Banyan A, Alotabi FE, Serrano J, Snuderl M, Al-Rashed M, Abedalthagafi M. Alharbi M, et al. Among authors: al rashed m. Front Neurol. 2020 Mar 20;11:167. doi: 10.3389/fneur.2020.00167. eCollection 2020. Front Neurol. 2020. PMID: 32265819 Free PMC article.
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
Povysil G, Butler-Laporte G, Shang N, Wang C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh RJ, Bourgey M, Aziz N, Jones SJ, Knoppers B, Scherer SW, Strug LJ, Lepage P, Ragoussis J, Bourque G, Alghamdi J, Aljawini N, Albes N, Al-Afghani HM, Alghamdi B, Almutairi MS, Mahmoud ES, Abu-Safieh L, El Bardisy H, Harthi FSA, Alshareef A, Suliman BA, Alqahtani SA, Almalik A, Alrashed MM, Massadeh S, Mooser V, Lathrop M, Fawzy M, Arabi YM, Mbarek H, Saad C, Al-Muftah W, Jung J, Mangul S, Badji R, Thani AA, Ismail SI, Gharavi AG, Abedalthagafi MS, Richards JB, Goldstein DB, Kiryluk K. Povysil G, et al. J Clin Invest. 2021 Jul 15;131(14):e147834. doi: 10.1172/JCI147834. J Clin Invest. 2021. PMID: 34043590 Free PMC article.
Factors that influence a patient's decision to engage in genetic research.
Almutairi A, Alqubaishi FA, Alsolm EA, Binowayn A, Almohammad R, Wani T, Ababtain A, Alkadi U, Alrashed MM, Althagafi M, Abu-Safieh L. Almutairi A, et al. Front Public Health. 2023 May 22;11:865786. doi: 10.3389/fpubh.2023.865786. eCollection 2023. Front Public Health. 2023. PMID: 37283985 Free PMC article.
43 results