Moosajee M - Search Results

1

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Lima Cunha D, Arno G, Corton M, Moosajee M. Lima Cunha D, et al. Among authors: moosajee m. Genes (Basel). 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050. Genes (Basel). 2019. PMID: 31861090 Free PMC article. Review.

2

Feasibility of Direct Vitrectomy-Sparing Subretinal Injection for Gene Delivery in Large Animals.

Stranak Z, Ardan T, Nemesh Y, Toms M, Toualbi L, Harbottle R, Ellederova Z, Lytvynchuk L, Petrovski G, Motlik J, Moosajee M, Kozak I. Stranak Z, et al. Among authors: moosajee m. Curr Eye Res. 2024 Aug;49(8):879-887. doi: 10.1080/02713683.2024.2343335. Epub 2024 Apr 26. Curr Eye Res. 2024. PMID: 38666493

3

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT. Hull S, et al. Among authors: moosajee m. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. Invest Ophthalmol Vis Sci. 2016. PMID: 26968735 Free article.

4

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C, Arno G, Brookes J, Garcia-Feijoo J, Khaw PT, Moosajee M. Yu-Wai-Man C, et al. Among authors: moosajee m. Eur J Hum Genet. 2018 Nov;26(11):1713-1718. doi: 10.1038/s41431-018-0227-y. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089822 Free PMC article.

5

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P. Jurkute N, et al. Among authors: moosajee m. Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. Eur J Hum Genet. 2019. PMID: 30143805 Free PMC article. No abstract available.

6

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Eintracht J, Corton M, FitzPatrick D, Moosajee M. Eintracht J, et al. Among authors: moosajee m. Eur J Hum Genet. 2020 May;28(5):679-690. doi: 10.1038/s41431-019-0565-4. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896778 Free PMC article. No abstract available.

7

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.

8

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.

Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Research Consortium GE, Arno G. Hay E, et al. Among authors: moosajee m. Clin Genet. 2020 Aug;98(2):191-197. doi: 10.1111/cge.13795. Clin Genet. 2020. PMID: 32530092

9

Practical guide to genetic screening for inherited eye diseases.

Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Méjécase C, et al. Among authors: moosajee m. Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592. doi: 10.1177/2515841420954592. eCollection 2020 Jan-Dec. Ther Adv Ophthalmol. 2020. PMID: 33015543 Free PMC article. Review.

10

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.

Lima Cunha D, Owen N, Tailor V, Corton M, Theodorou M, Moosajee M. Lima Cunha D, et al. Among authors: moosajee m. Eur J Hum Genet. 2021 Feb;29(2):349-355. doi: 10.1038/s41431-020-00737-1. Epub 2020 Oct 6. Eur J Hum Genet. 2021. PMID: 33024313 Free PMC article.

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