| The medaka draft genome and insights into vertebrate genome evolution M Kasahara, K Naruse, S Sasaki, Y Nakatani, W Qu, B Ahsan, T Yamada, ... Nature 447 (7145), 714-719, 2007 | 1193 | 2007 |
| The genome of a lepidopteran model insect, the silkworm Bombyx mori International Silkworm Genome Consortium Insect biochemistry and molecular biology 38 (12), 1036-1045, 2008 | 701 | 2008 |
| Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease H Ishiura, S Shibata, J Yoshimura, Y Suzuki, W Qu, K Doi, MA Almansour, ... Nature genetics 51 (8), 1222-1232, 2019 | 305 | 2019 |
| Human genetic variation database, a reference database of genetic variations in the Japanese population K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, ... Journal of human genetics 61 (6), 547-553, 2016 | 291 | 2016 |
| Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy H Ishiura, K Doi, J Mitsui, J Yoshimura, MK Matsukawa, A Fujiyama, ... Nature genetics 50 (4), 581-590, 2018 | 287 | 2018 |
| Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults T Yasuda, S Tsuzuki, M Kawazu, F Hayakawa, S Kojima, T Ueno, N Imoto, ... Nature genetics 48 (5), 569-574, 2016 | 262 | 2016 |
| Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults T Yasuda, S Tsuzuki, M Kawazu, F Hayakawa, S Kojima, T Ueno, N Imoto, ... Nature genetics 48 (5), 569-574, 2016 | 258 | 2016 |
| ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ... The American Journal of Human Genetics 93 (5), 900-905, 2013 | 169 | 2013 |
| Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 Y Higuchi, A Hashiguchi, J Yuan, A Yoshimura, J Mitsui, H Ishiura, ... Annals of neurology 79 (4), 659-672, 2016 | 101 | 2016 |
| A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34 K Ozaki, H Doi, J Mitsui, N Sato, Y Iikuni, T Majima, K Yamane, T Irioka, ... JAMA neurology 72 (7), 797-805, 2015 | 82 | 2015 |
| A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2 T Isojima, K Doi, J Mitsui, Y Oda, E Tokuhiro, A Yasoda, T Yorifuji, ... Journal of Bone and Mineral Research 29 (4), 992-998, 2014 | 78 | 2014 |
| Centromere evolution and CpG methylation during vertebrate speciation K Ichikawa, S Tomioka, Y Suzuki, R Nakamura, K Doi, J Yoshimura, ... Nature communications 8 (1), 1833, 2017 | 77 | 2017 |
| Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing K Doi, T Monjo, PH Hoang, J Yoshimura, H Yurino, J Mitsui, H Ishiura, ... Bioinformatics 30 (6), 815-822, 2014 | 77 | 2014 |
| Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy Y Higuchi, R Okunushi, T Hara, A Hashiguchi, J Yuan, A Yoshimura, ... Brain 141 (6), 1622-1636, 2018 | 49 | 2018 |
| Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation H Naruse, H Ishiura, J Mitsui, H Date, Y Takahashi, T Matsukawa, ... Neurobiology of aging 61, 255. e9-255. e16, 2018 | 41 | 2018 |
| Minimum recombinant haplotype configuration on tree pedigrees K Doi, J Li, T Jiang International Workshop on Algorithms in Bioinformatics, 339-353, 2003 | 41 | 2003 |
| UTGB/medaka: genomic resource database for medaka biology B Ahsan, D Kobayashi, T Yamada, M Kasahara, S Sasaki, TL Saito, ... Nucleic acids research 36 (suppl_1), D747-D752, 2007 | 38 | 2007 |
| A greedy algorithm for minimizing the number of primers in multiple PCR experiments K Doi, H Imai Genome Informatics 10, 73-82, 1999 | 37 | 1999 |
| Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS H Naruse, H Ishiura, J Mitsui, Y Takahashi, T Matsukawa, M Tanaka, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (5), 537-542, 2019 | 34 | 2019 |
| Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines K Fujimori, T Tezuka, H Ishiura, J Mitsui, K Doi, J Yoshimura, H Tada, ... Molecular brain 9, 1-14, 2016 | 33 | 2016 |
