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Page 1
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: bruwer z. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
An update on ocular involvement in mucopolysaccharidoses.
Ganesh A, Bruwer Z, Al-Thihli K. Ganesh A, et al. Among authors: bruwer z. Curr Opin Ophthalmol. 2013 Sep;24(5):379-88. doi: 10.1097/ICU.0b013e3283644ea1. Curr Opin Ophthalmol. 2013. PMID: 23872816 Review.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.
Al-Mamari W, Idris AB, Al-Thihli K, Abdulrahim R, Jalees S, Al-Jabri M, Gabr A, Al Murshedi F, Al Kindy A, Al-Hadabi I, Bruwer Z, Islam MM, Alsayegh A. Al-Mamari W, et al. Among authors: bruwer z. Int J Dev Disabil. 2021 Jun 21;69(2):190-200. doi: 10.1080/20473869.2021.1937000. eCollection 2023. Int J Dev Disabil. 2021. PMID: 37025335 Free PMC article.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, Al Kindy A, Al Riyami N, Al Dughaishi T, Al Salmani M, Al Hashmi N, Al Shehhi M, Al Fahdi B, Al Amri S, Al-Thihli K. Bruwer Z, et al. J Community Genet. 2022 Jun;13(3):303-311. doi: 10.1007/s12687-022-00584-1. Epub 2022 Feb 18. J Community Genet. 2022. PMID: 35179721 Free PMC article.
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Among authors: bruwer z. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.
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