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Items: 1 to 20 of 59


Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.

Sarkar H, Moosajee M.

Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Review.


The Molecular Basis of Human Anophthalmia and Microphthalmia.

Harding P, Moosajee M.

J Dev Biol. 2019 Aug 14;7(3). pii: E16. doi: 10.3390/jdb7030016. Review.


Anophthalmia including next-generation sequencing-based approaches.

Harding P, Brooks BP, FitzPatrick D, Moosajee M.

Eur J Hum Genet. 2019 Jul 29. doi: 10.1038/s41431-019-0479-1. [Epub ahead of print]


IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, Moosajee M, Tuft SJ, Davidson AE, Liskova P.

Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3084-3090. doi: 10.1167/iovs.19-26930.


Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A.

Hagag AM, Mitsios A, Gill JS, Nunez Do Rio JM, Theofylaktopoulos V, Houston S, Webster AR, Dubis AM, Moosajee M.

Br J Ophthalmol. 2019 Jul 2. pii: bjophthalmol-2019-314243. doi: 10.1136/bjophthalmol-2019-314243. [Epub ahead of print]


Cellular imaging of inherited retinal diseases using adaptive optics.

Gill JS, Moosajee M, Dubis AM.

Eye (Lond). 2019 Jun 4. doi: 10.1038/s41433-019-0474-3. [Epub ahead of print] Review.


RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.

Owen N, Moosajee M.

Ther Adv Ophthalmol. 2019 Mar 15;11:2515841419835460. doi: 10.1177/2515841419835460. eCollection 2019 Jan-Dec. Review.


Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.

Toms M, Burgoyne T, Tracey-White D, Richardson R, Dubis AM, Webster AR, Futter C, Moosajee M.

Sci Rep. 2019 Mar 7;9(1):3793. doi: 10.1038/s41598-019-40507-8.


Synchronized tissue-scale vasculogenesis and ubiquitous lateral sprouting underlie the unique architecture of the choriocapillaris.

Ali Z, Cui D, Yang Y, Tracey-White D, Vazquez-Rodriguez G, Moosajee M, Ju R, Li X, Cao Y, Jensen LD.

Dev Biol. 2019 Feb 21. pii: S0012-1606(18)30621-3. doi: 10.1016/j.ydbio.2019.02.002. [Epub ahead of print]


Transcriptome profiling of zebrafish optic fissure fusion.

Richardson R, Owen N, Toms M, Young RM, Tracey-White D, Moosajee M.

Sci Rep. 2019 Feb 7;9(1):1541. doi: 10.1038/s41598-018-38379-5.


Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.

Sarkar H, Mitsios A, Smart M, Skinner J, Welch AA, Kalatzis V, Coffey PJ, Dubis AM, Webster AR, Moosajee M.

Hum Mol Genet. 2019 Jun 1;28(11):1865-1871. doi: 10.1093/hmg/ddz028.


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.

Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14.


Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.

Mitsios A, Dubis AM, Moosajee M.

Ther Adv Ophthalmol. 2018 Dec 27;10:2515841418817490. doi: 10.1177/2515841418817490. eCollection 2018 Jan-Dec. Review.


Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait.

Moosajee M, Ali MA, Wong SC.

JAMA Ophthalmol. 2018 Nov 1;136(11):e183140. doi: 10.1001/jamaophthalmol.2018.3140. Epub 2018 Nov 8. No abstract available.


Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome.

Skilton A, Boswell E, Prince K, Francome-Wood P, Moosajee M.

Res Involv Engagem. 2018 Oct 26;4:40. doi: 10.1186/s40900-018-0124-0. eCollection 2018.


PAX6-Related Aniridia.

Moosajee M, Hingorani M, Moore AT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 May 20 [updated 2018 Oct 18].


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.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.


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.

Eur J Hum Genet. 2018 Nov;26(11):1713-1718. doi: 10.1038/s41431-018-0227-y. Epub 2018 Aug 8.


Women in Vision UK strive for gender equality in ophthalmology and vision sciences.

Khan H, Coupland SE, Moosajee M.

Ther Adv Ophthalmol. 2018 Apr 26;10:2515841418774434. doi: 10.1177/2515841418774434. eCollection 2018 Jan-Dec. No abstract available.


Facing up to gender inequality in ophthalmology and vision science.

Khan H, Moosajee M.

Eye (Lond). 2018 Sep;32(9):1421-1422. doi: 10.1038/s41433-018-0147-7. Epub 2018 Jun 15. No abstract available.

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