Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2003 3
2004 1
2005 1
2006 1
2007 2
2008 3
2009 3
2011 2
2012 4
2013 1
2014 1
2015 1
2016 8
2017 9
2018 13
2019 17
2020 21
2021 36
2022 17
2023 27
2024 27
2025 35
2026 18

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

222 results

Results by year

Filters applied: . Clear all
Page 1
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G. Lin S, et al. Among authors: moosajee m. Ophthalmol Retina. 2024 Jul;8(7):699-709. doi: 10.1016/j.oret.2024.01.012. Epub 2024 Jan 12. Ophthalmol Retina. 2024. PMID: 38219857 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: moosajee m. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Choroideremia: molecular mechanisms and therapies.
Sarkar H, Moosajee M. Sarkar H, et al. Among authors: moosajee m. Trends Mol Med. 2022 May;28(5):378-387. doi: 10.1016/j.molmed.2022.02.011. Epub 2022 Mar 24. Trends Mol Med. 2022. PMID: 35341685 Review.
USH2A-retinopathy: From genetics to therapeutics.
Toualbi L, Toms M, Moosajee M. Toualbi L, et al. Among authors: moosajee m. Exp Eye Res. 2020 Dec;201:108330. doi: 10.1016/j.exer.2020.108330. Epub 2020 Oct 27. Exp Eye Res. 2020. PMID: 33121974 Free PMC article. Review.
PAX6 Aniridia Syndrome.
Kit V, Oluonye N, Moosajee M. Kit V, et al. Among authors: moosajee m. 2003 May 20 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2003 May 20 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301534 Free Books & Documents. Review.
PAX6 disease models for aniridia.
Abdolkarimi D, Cunha DL, Lahne M, Moosajee M. Abdolkarimi D, et al. Among authors: moosajee m. Indian J Ophthalmol. 2022 Dec;70(12):4119-4129. doi: 10.4103/ijo.IJO_316_22. Indian J Ophthalmol. 2022. PMID: 36453299 Free PMC article. Review.
Metabolism in the Zebrafish Retina.
Jaroszynska N, Harding P, Moosajee M. Jaroszynska N, et al. Among authors: moosajee m. J Dev Biol. 2021 Mar 15;9(1):10. doi: 10.3390/jdb9010010. J Dev Biol. 2021. PMID: 33804189 Free PMC article. Review.
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Hunt C, Yoon HJ, Lirio A, Coley K, Wang J, Shrine N, Shao J, Maconachie GDE, Tu Z, Zippin JH, Hysi PG, Hammond CJ, Mahroo OA, Moosajee M, Michaelides M, Webster AR, Moshiri A, Chen R, Tobin MD, Batini C, Thomas MG; UK Biobank Eye and Vision Consortium. Hunt C, et al. Among authors: moosajee m. Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):22. doi: 10.1167/iovs.66.12.22. Invest Ophthalmol Vis Sci. 2025. PMID: 40923693 Free PMC article.
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.
Hughes MJ, Lamey T, Schiff ER, Lin S, Mclaren T, Thompson J, Stephenson KAJ, Sergouniotis P, Pontikos N, Daich Varela M, Moosajee M, Vincent A, Michaelides M, Arno G, Webster AR, Chen FK, Mahroo OA. Hughes MJ, et al. Among authors: moosajee m. Invest Ophthalmol Vis Sci. 2025 Aug 1;66(11):77. doi: 10.1167/iovs.66.11.77. Invest Ophthalmol Vis Sci. 2025. PMID: 40879293 Free PMC article.
222 results