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Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Among authors: patel a. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells.
Welby E, Lakowski J, Di Foggia V, Budinger D, Gonzalez-Cordero A, Lun ATL, Epstein M, Patel A, Cuevas E, Kruczek K, Naeem A, Minneci F, Hubank M, Jones DT, Marioni JC, Ali RR, Sowden JC. Welby E, et al. Among authors: patel a. Stem Cell Reports. 2017 Dec 12;9(6):1898-1915. doi: 10.1016/j.stemcr.2017.10.018. Epub 2017 Nov 16. Stem Cell Reports. 2017. PMID: 29153988 Free PMC article.
Genes and pathways in optic fissure closure.
Patel A, Sowden JC. Patel A, et al. Semin Cell Dev Biol. 2019 Jul;91:55-65. doi: 10.1016/j.semcdb.2017.10.010. Epub 2017 Dec 6. Semin Cell Dev Biol. 2019. PMID: 29198497 Review.
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. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Reply.
Sowden JC, Patel A, Dahlmann-Noor A, Cullup T, Jenkins L. Sowden JC, et al. Among authors: patel a. Ophthalmology. 2020 Apr;127(4):e22-e23. doi: 10.1016/j.ophtha.2019.12.020. Ophthalmology. 2020. PMID: 32200847 No abstract available.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M. Bryant D, et al. Among authors: patel a. JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586. JCI Insight. 2022. PMID: 35132964 Free PMC article.
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