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

Year Number of Results
1965 1
1978 1
1982 1
1986 1
1988 3
1989 1
1992 1
1993 1
1994 5
1995 4
1996 3
1997 2
1998 3
1999 2
2000 2
2001 7
2002 4
2003 3
2004 9
2005 13
2006 1
2007 5
2008 2
2009 3
2010 8
2011 10
2012 5
2013 10
2014 8
2015 5
2016 9
2017 7
2018 11
2019 18
2020 27
2021 16
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194 results
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Page 1
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: fujinami k. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Yang L, et al. Among authors: fujinami k. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. Sci Rep. 2020. PMID: 32218477 Free PMC article.
Three cases of acute-onset bilateral photophobia.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Ueno S, et al. Among authors: fujinami k. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2. Jpn J Ophthalmol. 2019. PMID: 30604114
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S. Lie H, et al. Among authors: fujinami k. Ophthalmic Genet. 2021 Apr;42(2):144-149. doi: 10.1080/13816810.2020.1861307. Epub 2020 Dec 29. Ophthalmic Genet. 2021. PMID: 33372566
Phenogenon: Gene to phenotype associations for rare genetic diseases.
Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S, Webster A, Yu J; UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium. Pontikos N, et al. Among authors: fujinami k. PLoS One. 2020 Apr 9;15(4):e0230587. doi: 10.1371/journal.pone.0230587. eCollection 2020. PLoS One. 2020. PMID: 32271766 Free PMC article.
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