Mannose-binding lectin and its genetic variants P Garred, F Larsen, J Seyfarth, R Fujita, HO Madsen Genes & Immunity 7 (2), 85-94, 2006 | 509 | 2006 |
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma CC Khor, T Do, H Jia, M Nakano, R George, K Abu-Amero, R Duvesh, ... Nature genetics 48 (5), 556-562, 2016 | 191 | 2016 |
Geographic population structure analysis of worldwide human populations infers their biogeographical origins E Elhaik, T Tatarinova, D Chebotarev, IS Piras, C Maria Calò, A De Montis, ... Nature communications 5 (1), 3513, 2014 | 156 | 2014 |
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa M Buraczynska, W Wu, R Fujita, K Buraczynska, E Phelps, S Andréasson, ... The American Journal of Human Genetics 61 (6), 1287-1292, 1997 | 124 | 1997 |
Y chromosome sequences reveal a short Beringian Standstill, rapid expansion, and early population structure of Native American founders T Pinotti, A Bergström, M Geppert, M Bawn, D Ohasi, W Shi, DR Lacerda, ... Current Biology 29 (1), 149-157. e3, 2019 | 108 | 2019 |
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker R Fujita, Y Agid, P Trouillas, A Seck, C Tommasi-Davenas, AJ Driesel, ... Genomics 4 (1), 110-111, 1989 | 103 | 1989 |
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. SG Jacobson, M Buraczynska, AH Milam, C Chen, M Järvaläinen, R Fujita, ... Investigative ophthalmology & visual science 38 (10), 1983-1997, 1997 | 100 | 1997 |
Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors JR Sandoval, A Salazar-Granara, O Acosta, W Castillo-Herrera, R Fujita, ... Journal of human genetics 58 (9), 627-634, 2013 | 95 | 2013 |
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr) D Yan, PK Swain, D Breuer, RM Tucker, W Wu, R Fujita, A Rehemtulla, ... Journal of Biological Chemistry 273 (31), 19656-19663, 1998 | 92 | 1998 |
A paleogenomic reconstruction of the deep population history of the Andes N Nakatsuka, I Lazaridis, C Barbieri, P Skoglund, N Rohland, S Mallick, ... Cell 181 (5), 1131-1145. e21, 2020 | 89 | 2020 |
Variation in optineurin (OPTN) allele frequencies between and within populations RM Ayala-Lugo, H Pawar, DM Reed, PR Lichter, SE Moroi, M Page, ... Molecular vision 13, 151, 2007 | 83 | 2007 |
Peruvian horse sickness virus and Yunnan orbivirus, isolated from vertebrates and mosquitoes in Peru and Australia H Attoui, MR Mendez-Lopez, S Rao, A Hurtado-Alendes, ... Virology 394 (2), 298-310, 2009 | 82 | 2009 |
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. A Hanauer, M Chery, R Fujita, AJ Driesel, S Gilgenkrantz, JL Mandel American journal of human genetics 46 (1), 133, 1990 | 81 | 1990 |
Ethics of DNA research on human remains: five globally applicable guidelines S Alpaslan-Roodenberg, D Anthony, H Babiker, E Bánffy, T Booth, ... Nature 599 (7883), 41-46, 2021 | 79 | 2021 |
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27 L Gieser, R Fujita, HHH Göring, J Ott, DR Hoffman, AV Cideciyan, ... The American Journal of Human Genetics 63 (5), 1439-1447, 1998 | 77 | 1998 |
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. G Sirugo, B Keats, R Fujita, F Duclos, K Purohit, M Koenig, JL Mandel American journal of human genetics 50 (3), 559, 1992 | 76 | 1992 |
Analysis of the RPGRGene in 11 Pedigrees with the Retinitis Pigmentosa Type 3 Genotype: Paucity of Mutations in the Coding Region but Splice Defects in Two Families R Fujita, M Buraczynska, L Gieser, W Wu, P Forsythe, M Abrahamson, ... The American Journal of Human Genetics 61 (3), 571-580, 1997 | 74 | 1997 |
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa AJ Mears, L Gieser, D Yan, C Chen, S Fahrner, S Hiriyanna, R Fujita, ... The American Journal of Human Genetics 64 (3), 897-900, 1999 | 73 | 1999 |
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. R Fujita, A Hanauer, G Sirugo, R Heilig, JL Mandel Proceedings of the National Academy of Sciences 87 (5), 1796-1800, 1990 | 73 | 1990 |
The genetic history of indigenous populations of the Peruvian and Bolivian Altiplano: the legacy of the Uros JR Sandoval, DR Lacerda, MSA Jota, A Salazar-Granara, PPR Vieira, ... PLoS One 8 (9), e73006, 2013 | 67 | 2013 |