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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 14
2019 17
2020 21
2021 36
2022 18
2023 27
2024 27
2025 5

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179 results

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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 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.
PAX6-Related Aniridia.
Moosajee M, Hingorani M, Moore AT. Moosajee M, et al. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301534 Free Books & Documents. Review.
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.
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.
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.
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.
OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.
Wong DCS, Harvey JP, Jurkute N, Thomasy SM, Moosajee M, Yu-Wai-Man P, Gilhooley MJ. Wong DCS, et al. Among authors: moosajee m. J Neuroophthalmol. 2023 Dec 1;43(4):464-474. doi: 10.1097/WNO.0000000000001830. Epub 2023 Apr 19. J Neuroophthalmol. 2023. PMID: 37974363 Free PMC article. No abstract available.
Review of current literature on gestational trophoblastic neoplasia.
Shahzadi M, Khan SR, Tariq M, Baloch SS, Shahid A, Moosajee M, Samon Z. Shahzadi M, et al. Among authors: moosajee m. J Egypt Natl Canc Inst. 2023 Nov 27;35(1):37. doi: 10.1186/s43046-023-00195-y. J Egypt Natl Canc Inst. 2023. PMID: 38008872 Review.
Animal and cellular models of microphthalmia.
Harding P, Cunha DL, Moosajee M. Harding P, et al. Among authors: moosajee m. Ther Adv Rare Dis. 2021 Feb 27;2:2633004021997447. doi: 10.1177/2633004021997447. eCollection 2021 Jan-Dec. Ther Adv Rare Dis. 2021. PMID: 37181112 Free PMC article. Review.
179 results