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Clinical utility gene card for: Wolfram syndrome.
Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R. Moosajee M, et al. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222289 Free PMC article. No abstract available.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. Pontikos N, et al. Among authors: moosajee m. Ophthalmology. 2020 Oct;127(10):1384-1394. doi: 10.1016/j.ophtha.2020.04.008. Epub 2020 Apr 16. Ophthalmology. 2020. PMID: 32423767 Free PMC article.
Ocular Phenotype Associated with DYRK1A Variants.
Méjécase C, Way CM, Owen N, Moosajee M. Méjécase C, et al. Among authors: moosajee m. Genes (Basel). 2021 Feb 5;12(2):234. doi: 10.3390/genes12020234. Genes (Basel). 2021. PMID: 33562844 Free PMC article.
162 results