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Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS. Shtir C, et al. Among authors: nowailaty sr. Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22. Hum Genet. 2016. PMID: 26693933
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: nowailaty sr. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919