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Page 1
Retinal morphology across the menstrual cycle: insights from the UK Biobank.
Ribeiro Reis AP, Ioannidou E, Wagner SK, Struyven R, Sun Z, Foster P, Khawaja AP, Petzold A, Sivaprasad S, Pontikos N, Keane PA, Balaskas K, Greco E, Iliodromiti S, Patel PJ. Ribeiro Reis AP, et al. Among authors: pontikos n. NPJ Womens Health. 2024;2(1):38. doi: 10.1038/s44294-024-00042-y. Epub 2024 Nov 8. NPJ Womens Health. 2024. PMID: 39654609 Free PMC article.
Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.
Wong WM, Tham YC, Ayton LN, Britten-Jones AC, Edwards TL, Grigg J, Simunovic MP, Chen FK, Jin ZB, Shen RJ, Sui R, Yang L, Zhao C, Chen H, Li S, Ding X, Bhende M, Raman R, Sen P, Poornachandra B, Chia V, Manurung F, Sasongko MB, Ikeda H, Fujinami K, Woo SJ, Kim SJ, Bastion MC, Kamalden AT, Lott PP, Fong K, Shunmugam M, Lim A, Thapa R, Ibañez BMB, Koh A, Holder GE, Su X, Chan CM, Fenner BJ, Laude A, Ngo WK, Chen TC, Wang NK, Kang EY, Surawatsatien N, Pisuchpen P, Sujirakul T, Wongchaisuwat N, Apivatthakakul A, Kumaramanickavel G, Leroy B, Michaelides M, Pontikos N, Cheng CY, Pang CP, Chen LJ, Chan HW. Wong WM, et al. Among authors: pontikos n. Asia Pac J Ophthalmol (Phila). 2024 Sep-Oct;13(5):100098. doi: 10.1016/j.apjo.2024.100098. Epub 2024 Oct 2. Asia Pac J Ophthalmol (Phila). 2024. PMID: 39366638 Free article.
Digital health and wearable devices for retinal disease monitoring.
Daich Varela M, Sanders Villa A, Pontikos N, Crossland MD, Michaelides M. Daich Varela M, et al. Among authors: pontikos n. Graefes Arch Clin Exp Ophthalmol. 2024 Sep 19. doi: 10.1007/s00417-024-06634-3. Online ahead of print. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 39297890 Review.
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. EMBO Mol Med. 2024 Oct;16(10):2560-2582. doi: 10.1038/s44321-024-00118-x. Epub 2024 Aug 28. EMBO Mol Med. 2024. PMID: 39198715 Free PMC article.
A novel frameshift variant in BCOR causes congenital nuclear cataract.
Berry V, Ponnekanti MB, Pontikos N, Quinlan RA, Michaelides M. Berry V, et al. Among authors: pontikos n. Ophthalmic Genet. 2024 Dec;45(6):591-595. doi: 10.1080/13816810.2024.2373248. Epub 2024 Jul 3. Ophthalmic Genet. 2024. PMID: 38957147 Free PMC article.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. Am J Hum Genet. 2024 Jul 11;111(7):1494. doi: 10.1016/j.ajhg.2024.05.022. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866021 Free article. No abstract available.
The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.
Stuart KV, Biradar MI, Luben RN, Dhaun N, Wagner SK, Warwick AN, Sun Z, Madjedi KM, Pasquale LR, Wiggs JL, Kang JH, Lentjes MAH, Aschard H, Kim J, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration; UK Biobank Eye and Vision Consortium; International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2024 Sep-Oct;7(5):499-511. doi: 10.1016/j.ogla.2024.04.010. Epub 2024 May 8. Ophthalmol Glaucoma. 2024. PMID: 38723778 Free article.
Pegcetacoplan Treatment and Consensus Features of Geographic Atrophy Over 24 Months.
Fu DJ, Bagga P, Naik G, Glinton S, Faes L, Liefers B, Lima R, Wignall G, Keane PA, Ioannidou E, Ribeiro Reis AP, McKeown A, Scheibler L, Patel PJ, Moghul I, Pontikos N, Balaskas K. Fu DJ, et al. Among authors: pontikos n. JAMA Ophthalmol. 2024 Jun 1;142(6):548-558. doi: 10.1001/jamaophthalmol.2024.1269. JAMA Ophthalmol. 2024. PMID: 38722644 Free PMC article. Clinical Trial.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE. Bhattacharyya N, et al. Among authors: pontikos n. PLoS Genet. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230. eCollection 2024 May. PLoS Genet. 2024. PMID: 38713708 Free PMC article.
149 results