Insights into land plant evolution garnered from the Marchantia polymorpha genome JL Bowman, T Kohchi, KT Yamato, J Jenkins, S Shu, K Ishizaki, ... Cell 171 (2), 287-304. e15, 2017 | 1006 | 2017 |
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals M Nagasaki, J Yasuda, F Katsuoka, N Nariai, K Kojima, Y Kawai, ... Nature communications 6 (1), 8018, 2015 | 425 | 2015 |
Functional Differentiation of the Glycosyltransferases That Contribute to the Chemical Diversity of Bioactive Flavonol Glycosides in Grapevines (Vitis vinifera) E Ono, Y Homma, M Horikawa, S Kunikane-Doi, H Imai, S Takahashi, ... The Plant Cell 22 (8), 2856-2871, 2010 | 180 | 2010 |
iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing Y Yamaguchi-Kabata, N Nariai, Y Kawai, Y Sato, K Kojima, M Tateno, ... Human genome variation 2 (1), 1-4, 2015 | 112 | 2015 |
Genome-wide association study identifies TLL1 variant associated with development of hepatocellular carcinoma after eradication of hepatitis C virus infection K Matsuura, H Sawai, K Ikeo, S Ogawa, E Iio, M Isogawa, N Shimada, ... Gastroenterology 152 (6), 1383-1394, 2017 | 108 | 2017 |
HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data N Nariai, K Kojima, S Saito, T Mimori, Y Sato, Y Kawai, ... BMC genomics 16, 1-6, 2015 | 93 | 2015 |
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs HJ Cordell, JJ Fryett, K Ueno, R Darlay, Y Aiba, Y Hitomi, M Kawashima, ... Journal of hepatology 75 (3), 572-581, 2021 | 90 | 2021 |
A conserved strategy of chalcone isomerase-like protein to rectify promiscuous chalcone synthase specificity T Waki, R Mameda, T Nakano, S Yamada, M Terashita, K Ito, N Tenma, ... Nature communications 11 (1), 870, 2020 | 85 | 2020 |
Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population M Kawashima, Y Hitomi, Y Aiba, N Nishida, K Kojima, Y Kawai, ... Human molecular genetics 26 (3), 650-659, 2017 | 76 | 2017 |
Late Jomon male and female genome sequences from the Funadomari site in Hokkaido, Japan H Kanzawa-Kiriyama, TA Jinam, Y Kawai, T Sato, K Hosomichi, A Tajima, ... Anthropological Science 127 (2), 83-108, 2019 | 73 | 2019 |
Involvement of chalcone reductase in the soybean isoflavone metabolon: identification of Gm CHR 5, which interacts with 2‐hydroxyisoflavanone synthase R Mameda, T Waki, Y Kawai, S Takahashi, T Nakayama The Plant Journal 96 (1), 56-74, 2018 | 63 | 2018 |
Strong association of the HLA-DR/DQ locus with childhood steroid-sensitive nephrotic syndrome in the Japanese population X Jia, T Horinouchi, Y Hitomi, A Shono, SS Khor, Y Omae, K Kojima, ... Journal of the American Society of Nephrology 29 (8), 2189-2199, 2018 | 62 | 2018 |
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing T Mizuguchi, T Suzuki, C Abe, A Umemura, K Tokunaga, Y Kawai, ... Journal of human genetics 64 (5), 359-368, 2019 | 60 | 2019 |
Identification of a Highly Specific Isoflavone 7-O-glucosyltransferase in the soybean (Glycine max (L.) Merr.) A Funaki, T Waki, A Noguchi, Y Kawai, S Yamashita, S Takahashi, ... Plant and Cell Physiology 56 (8), 1512-1520, 2015 | 60 | 2015 |
LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn’s disease patients TC Liu, T Naito, Z Liu, KL VanDussen, T Haritunians, D Li, K Endo, ... JCI insight 2 (6), 2017 | 58 | 2017 |
TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads N Nariai, K Kojima, T Mimori, Y Sato, Y Kawai, Y Yamaguchi-Kabata, ... BMC genomics 15, 1-9, 2014 | 51 | 2014 |
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome Y Oka, M Hamada, Y Nakazawa, H Muramatsu, Y Okuno, K Higasa, ... Science Advances 6 (51), eabd7197, 2020 | 50 | 2020 |
Practical guide for managing large-scale human genome data in research T Tanjo, Y Kawai, K Tokunaga, O Ogasawara, M Nagasaki Journal of Human Genetics 66 (1), 39-52, 2021 | 44 | 2021 |
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome X Jia, T Yamamura, R Gbadegesin, MT McNulty, K Song, Y Hitomi, D Lee, ... Kidney international 98 (5), 1308-1322, 2020 | 42 | 2020 |
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals Y Yamaguchi-Kabata, J Yasuda, O Tanabe, Y Suzuki, H Kawame, N Fuse, ... Journal of human genetics 63 (2), 213-230, 2018 | 39 | 2018 |