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Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3. Genome Res. 2014. PMID: 24389050 Free PMC article.
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432
Novel CENPJ mutation causes Seckel syndrome.
Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya fs. J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646. J Med Genet. 2010. PMID: 20522431
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x. Clin Genet. 2011. PMID: 20681997
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21462283
591 results