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

Year Number of Results
2005 2
2007 1
2008 2
2009 2
2010 3
2012 6
2013 6
2014 3
2015 5
2016 9
2017 7
2018 9
2019 18
2020 14
2021 11
2022 9
2023 15
2024 4

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112 results

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Page 1
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Varela MD, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Kabiri N, Sumodhee D, Patel P, Furman J, Moghul I, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusuhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: downes sm. medRxiv [Preprint]. 2024 Mar 28:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: downes sm. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
Kiraly P, Seitz IP, Abdalla Elsayed MEA, Downes SM, Patel CK, Charbel Issa P, Birtel J, Mautone L, Dulz S, Atiskova Y, Herrmann P, Vrabič N, Jarc-Vidmar M, Hawlina M, Fischer MD. Kiraly P, et al. Among authors: downes sm. Front Med (Lausanne). 2024 Jan 11;10:1331889. doi: 10.3389/fmed.2023.1331889. eCollection 2023. Front Med (Lausanne). 2024. PMID: 38351967 Free PMC article.
Central serous chorioretinopathy: An evidence-based treatment guideline.
Feenstra HMA, van Dijk EHC, Cheung CMG, Ohno-Matsui K, Lai TYY, Koizumi H, Larsen M, Querques G, Downes SM, Yzer S, Breazzano MP, Subhi Y, Tadayoni R, Priglinger SG, Pauleikhoff LJB, Lange CAK, Loewenstein A, Diederen RMH, Schlingemann RO, Hoyng CB, Chhablani JK, Holz FG, Sivaprasad S, Lotery AJ, Yannuzzi LA, Freund KB, Boon CJF. Feenstra HMA, et al. Among authors: downes sm. Prog Retin Eye Res. 2024 Jan 31:101236. doi: 10.1016/j.preteyeres.2024.101236. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38301969 Free article. Review.
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Kiraly P, Cottriall CL, Taylor LJ, Jolly JK, Cehajic-Kapetanovic J, Yusuf IH, Martinez-Fernandez de la Camara C, Shanks M, Downes SM, MacLaren RE, Fischer MD. Kiraly P, et al. Among authors: downes sm. Biomolecules. 2023 Oct 5;13(10):1484. doi: 10.3390/biom13101484. Biomolecules. 2023. PMID: 37892166 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: downes sm. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
New Imaging Technology for Simultaneous Multiwavelength-UWF Fundus Fluorescein Angiography and Indocyanine Green Angiography With Navigated Central and Peripheral SS-OCT.
Bravo FJV, Ayliffe W, Stanga SFE, Reinstein UI, Moxham R, Tariq Z, Downes SM, Stanga PE. Bravo FJV, et al. Among authors: downes sm. Ophthalmic Surg Lasers Imaging Retina. 2023 Jul;54(7):401-410. doi: 10.3928/23258160-20230607-01. Epub 2023 Jun 1. Ophthalmic Surg Lasers Imaging Retina. 2023. PMID: 37418670
112 results