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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, Hundallah K, Wali S, Al-Hebbi H, Babiker A, Mohamed S, Eyaid W, Zada AAP. Alfares A, et al. Mol Genet Metab. 2017 Jun;121(2):91-95. doi: 10.1016/j.ymgme.2017.04.002. Epub 2017 Apr 7. Mol Genet Metab. 2017. PMID: 28454995 No abstract available.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, Rashid M, Alswaid A, Alothaim A, Eyaid W, Ababneh F, Albalwi M, Alotaibi R, Almutairi M, Altharawi N, Alsamer A, Abdelhakim M, Kafkas S, Mineta K, Cheung N, Abdallah AM, Büchmann-Møller S, Fukasawa Y, Zhao X, Rajan I, Hoehndorf R, Al Mutairi F, Gojobori T, Alfadhel M. Alfares A, et al. Among authors: alsubaie l. BMC Med Genomics. 2020 Jul 17;13(1):103. doi: 10.1186/s12920-020-00743-8. BMC Med Genomics. 2020. PMID: 32680510 Free PMC article.
Common disease-associated gene variants in a Saudi Arabian population.
Aleissa M, Aloraini T, Alsubaie LF, Hassoun M, Abdulrahman G, Swaid A, Eyaid WA, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Aleissa M, et al. Among authors: alsubaie lf. Ann Saudi Med. 2022 Jan-Feb;42(1):29-35. doi: 10.5144/0256-4947.2022.29. Epub 2022 Feb 3. Ann Saudi Med. 2022. PMID: 35112591 Free PMC article.
The rate of secondary genomic findings in the Saudi population.
Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, Al Mutairi F, Ababneh F, Alfadhel M, Alfares A. Aloraini T, et al. Among authors: alsubaie l. Am J Med Genet A. 2022 Jan;188(1):83-88. doi: 10.1002/ajmg.a.62491. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515413
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: alsubaie l. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.
AlHarbi M, Ali Mobark N, AlMubarak L, Aljelaify R, AlSaeed M, Almutairi A, Alqubaishi F, Hussain ME, Balbaid AAO, Said Marie A, AlSubaie L, AlShieban S, alTassan N, Ramkissoon SH, Abedalthagafi M. AlHarbi M, et al. Among authors: alsubaie l. Oncologist. 2018 Dec;23(12):1401-1406. doi: 10.1634/theoncologist.2018-0163. Epub 2018 Aug 13. Oncologist. 2018. PMID: 30104292 Free PMC article.
17 results