Stephenson KAJ - Search Results

1

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

O'Connell A, Zhu J, Stephenson KAJ, Whelan L, Dockery A, Turner J, O'Byrne JJ, Farrar GJ, Keegan D. O'Connell A, et al. Among authors: stephenson kaj. Case Rep Ophthalmol. 2022 Dec 16;13(3):1015-1023. doi: 10.1159/000527260. eCollection 2022 Sep-Dec. Case Rep Ophthalmol. 2022. PMID: 36605040 Free PMC article.

2

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

Carrigan M, Duignan E, Malone CP, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna PF, Farrar GJ. Carrigan M, et al. Sci Rep. 2016 Sep 14;6:33248. doi: 10.1038/srep33248. Sci Rep. 2016. PMID: 27624628 Free PMC article.

3

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Dockery A, Stephenson K, Keegan D, Wynne N, Silvestri G, Humphries P, Kenna PF, Carrigan M, Farrar GJ. Dockery A, et al. Genes (Basel). 2017 Nov 3;8(11):304. doi: 10.3390/genes8110304. Genes (Basel). 2017. PMID: 29099798 Free PMC article.

4

Final anatomic and visual outcomes appear independent of duration of silicone oil intraocular tamponade in complex retinal detachment surgery.

Rhatigan M, McElnea E, Murtagh P, Stephenson K, Harris E, Connell P, Keegan D. Rhatigan M, et al. Int J Ophthalmol. 2018 Jan 18;11(1):83-88. doi: 10.18240/ijo.2018.01.15. eCollection 2018. Int J Ophthalmol. 2018. PMID: 29375996 Free PMC article.

5

Paediatric retinal detachment: aetiology, characteristics and outcomes.

McElnea E, Stephenson K, Gilmore S, O'Keefe M, Keegan D. McElnea E, et al. Int J Ophthalmol. 2018 Feb 18;11(2):262-266. doi: 10.18240/ijo.2018.02.14. eCollection 2018. Int J Ophthalmol. 2018. PMID: 29487817 Free PMC article.

6

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.

Stephenson K, Dockery A, Wynne N, Carrigan M, Kenna P, Jane Farrar G, Keegan D. Stephenson K, et al. BMC Med Genet. 2018 Nov 12;19(1):195. doi: 10.1186/s12881-018-0712-8. BMC Med Genet. 2018. PMID: 30419843 Free PMC article.

7

Rhegmatogenous retinal detachments: primary reattachment rates and visual outcomes over a 4-year period.

Murtagh PJ, Stephenson KA, Rhatigan M, McElnea EM, Connell PP, Keegan DJ. Murtagh PJ, et al. Ir J Med Sci. 2020 Feb;189(1):355-363. doi: 10.1007/s11845-019-02084-7. Epub 2019 Aug 15. Ir J Med Sci. 2020. PMID: 31418155

8

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.

Stephenson KAJ, Dockery A, O'Keefe M, Green A, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Eye (Lond). 2020 Apr;34(4):690-694. doi: 10.1038/s41433-019-0580-2. Epub 2019 Sep 16. Eye (Lond). 2020. PMID: 31527767 Free PMC article.

9

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.

Dockery A, Carrigan M, Wynne N, Stephenson K, Keegan D, Kenna PF, Farrar GJ. Dockery A, et al. Adv Exp Med Biol. 2019;1185:203-207. doi: 10.1007/978-3-030-27378-1_33. Adv Exp Med Biol. 2019. PMID: 31884612

10

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Whelan L, Dockery A, Wynne N, Zhu J, Stephenson K, Silvestri G, Turner J, O'Byrne JJ, Carrigan M, Humphries P, Keegan D, Kenna PF, Farrar GJ. Whelan L, et al. Genes (Basel). 2020 Jan 16;11(1):105. doi: 10.3390/genes11010105. Genes (Basel). 2020. PMID: 31963381 Free PMC article.

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