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Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: almaarik b. Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29416564 Free PMC article.
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.
Patel N, Khan AO, Al-Saif M, Moghrabi WN, AlMaarik BM, Ibrahim N, Abdulwahab F, Hashem M, Alshidi T, Alobeid E, Alomar RA, Al-Harbi S, Abouelhoda M, Khabar KSA, Alkuraya FS. Patel N, et al. Among authors: almaarik bm. Genome Biol. 2017 Jul 28;18(1):144. doi: 10.1186/s13059-017-1274-3. Genome Biol. 2017. PMID: 28754144 Free PMC article.