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Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Among authors: alzahrani f. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium; Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. Shaheen R, et al. Among authors: alzahrani f. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30. Hum Mol Genet. 2015. PMID: 25361962 Free PMC article.
Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.
Qadah T, Noorwali A, Alzahrani F, Banjar A, Filimban N, Felimban R. Qadah T, et al. Among authors: alzahrani f. Indian J Hematol Blood Transfus. 2020 Oct;36(4):705-710. doi: 10.1007/s12288-020-01270-3. Epub 2020 Mar 3. Indian J Hematol Blood Transfus. 2020. PMID: 33100714 Free PMC article.
407 results