| 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 | 308 | 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 | 288 | 2018 |
| siDirect 2.0: updated software for designing functional siRNA with reduced seed-dependent off-target effect Y Naito, J Yoshimura, S Morishita, K Ui-Tei BMC bioinformatics 10, 1-8, 2009 | 230 | 2009 |
| 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 |
| Recompleting the Caenorhabditis elegans genome J Yoshimura, K Ichikawa, MJ Shoura, KL Artiles, I Gabdank, L Wahba, ... Genome research 29 (6), 1009-1022, 2019 | 114 | 2019 |
| 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 | 102 | 2016 |
| Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients A Ishii, Y Saito, J Mitsui, H Ishiura, J Yoshimura, H Arai, S Yamashita, ... PloS one 8 (2), e56120, 2013 | 95 | 2013 |
| 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 | 79 | 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 |
| Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut Y Suzuki, S Nishijima, Y Furuta, J Yoshimura, W Suda, K Oshima, ... Microbiome 7, 1-16, 2019 | 72 | 2019 |
| ATF6α/β-mediated adjustment of ER chaperone levels is essential for development of the notochord in medaka fish T Ishikawa, T Okada, T Ishikawa-Fujiwara, T Todo, Y Kamei, S Shigenobu, ... Molecular biology of the cell 24 (9), 1387-1395, 2013 | 64 | 2013 |
| 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 |
| Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency M Kawazu, S Kojima, T Ueno, Y Totoki, H Nakamura, A Kunita, W Qu, ... PLoS genetics 13 (6), e1006853, 2017 | 48 | 2017 |
| CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy J Mitsui, T Matsukawa, H Ishiura, K Higasa, J Yoshimura, TL Saito, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012 | 45 | 2012 |
| 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 |
| Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation K Ishino, H Hasuwa, J Yoshimura, YW Iwasaki, H Nishihara, NM Seki, ... Nucleic acids research 49 (5), 2700-2720, 2021 | 37 | 2021 |
| 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 |
| AgIn: measuring the landscape of CpG methylation of individual repetitive elements Y Suzuki, J Korlach, SW Turner, T Tsukahara, J Taniguchi, W Qu, ... Bioinformatics 32 (19), 2911-2919, 2016 | 34 | 2016 |
