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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: fujinami k. 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: fujinami k. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S, Fabozzi L, Fujinami K, Fujinami-Yokokawa YU, Wright GA, Webster A, Mahroo O, Robson AG, Georgiou M, Michaelides M. Sen S, et al. Among authors: fujinami k. Am J Ophthalmol. 2024 Mar 23;264:205-215. doi: 10.1016/j.ajo.2024.03.009. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38522724 Free article.
242 results