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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.
Clinical utility gene card for: choroideremia.
Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR. Moosajee M, et al. Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.183. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963298 Free PMC article. No abstract available.
Clinical utility gene card for: Aniridia.
Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M. Richardson R, et al. Among authors: moosajee m. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6. Eur J Hum Genet. 2016. PMID: 27381094 Free PMC article. No abstract available.
CUGC for congenital primary aphakia.
Sarkar H, Moore W, Leroy BP, Moosajee M. Sarkar H, et al. Among authors: moosajee m. Eur J Hum Genet. 2018 Aug;26(8):1234-1237. doi: 10.1038/s41431-018-0171-x. Epub 2018 May 16. Eur J Hum Genet. 2018. PMID: 29769628 Free PMC article. No abstract available.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: moosajee m. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Anophthalmia including next-generation sequencing-based approaches.
Harding P, Brooks BP, FitzPatrick D, Moosajee M. Harding P, et al. Among authors: moosajee m. Eur J Hum Genet. 2020 Mar;28(3):388-398. doi: 10.1038/s41431-019-0479-1. Epub 2019 Jul 29. Eur J Hum Genet. 2020. PMID: 31358957 Free PMC article.
161 results