| Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome K Arima, A Kinoshita, H Mishima, N Kanazawa, T Kaneko, T Mizushima, ... Proceedings of the National Academy of Sciences 108 (36), 14914-14919, 2011 | 347 | 2011 |
| Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair Y Nakazawa, K Sasaki, N Mitsutake, M Matsuse, M Shimada, T Nardo, ... Nature Genetics 44 (5), 586-592, 2012 | 204 | 2012 |
| Characterization of placenta‐specific microRNAs in fetal growth restriction pregnancy A Higashijima, K Miura, H Mishima, A Kinoshita, O Jo, S Abe, ... Prenatal diagnosis 33 (3), 214-222, 2013 | 169 | 2013 |
| Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma O Tsukamoto, K Miura, H Mishima, S Abe, M Kaneuchi, A Higashijima, ... Gynecologic oncology 132 (3), 715-721, 2014 | 97 | 2014 |
| Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome Y Uchiyama, M Nakashima, S Watanabe, M Miyajima, M Taguri, ... Scientific reports 6 (1), 22985, 2016 | 77 | 2016 |
| Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities Y Morimoto, S Yoshida, A Kinoshita, C Satoh, H Mishima, N Yamaguchi, ... Neurology 92 (20), e2364-e2374, 2019 | 73 | 2019 |
| Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan H Mishima, H Suzuki, M Doi, M Miyazaki, S Watanabe, T Matsumoto, ... Journal of human genetics 64 (8), 789-794, 2019 | 67 | 2019 |
| Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction T Ishikawa, S Ohno, T Murakami, K Yoshida, H Mishima, T Fukuoka, ... Heart Rhythm 14 (5), 717-724, 2017 | 55 | 2017 |
| Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome T Ishikawa, H Kimoto, H Mishima, K Yamagata, S Ogata, Y Aizawa, ... European heart journal 42 (29), 2854-2863, 2021 | 45 | 2021 |
| Biogem: an effective tool based approach for scaling up open source software development in bioinformatics RJP Bonnal, J Aerts, G Githinji, N Goto, D MacLean, CA Miller, H Mishima, ... Bioinformatics 28 (7), 1035-1037, 2012 | 43 | 2012 |
| Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy K Miura, A Higashijima, H Mishima, S Miura, M Kitajima, M Kaneuchi, ... Fertility and Sterility 103 (5), 1202-1208. e1, 2015 | 38 | 2015 |
| Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency S Tamura, K Higuchi, M Tamaki, C Inoue, R Awazawa, N Mitsuki, ... Clinical immunology 160 (2), 255-260, 2015 | 33 | 2015 |
| Genome‐wide association study of HPV‐associated cervical cancer in Japanese women K Miura, H Mishima, A Kinoshita, C Hayashida, S Abe, K Tokunaga, ... Journal of medical virology 86 (7), 1153-1158, 2014 | 33 | 2014 |
| Germline mutations causing familial lung cancer K Tomoshige, K Matsumoto, T Tsuchiya, M Oikawa, T Miyazaki, ... Journal of human genetics 60 (10), 597-603, 2015 | 31 | 2015 |
| Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing M Horai, H Mishima, C Hayashida, A Kinoshita, Y Nakane, T Matsuo, ... Journal of human genetics 63 (3), 357-363, 2018 | 30 | 2018 |
| Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations K Sasaki, H Mishima, K Miura, K Yoshiura Gene 512 (2), 267-274, 2013 | 29 | 2013 |
| Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer S Abe, K Miura, A Kinoshita, H Mishima, S Miura, K Yamasaki, ... Journal of Human Genetics, 2013 | 28 | 2013 |
| Progressive atrial conduction defects associated with bone malformation caused by a connexin-45 mutation A Seki, T Ishikawa, X Daumy, H Mishima, J Barc, R Sasaki, K Nishii, ... Journal of the American College of Cardiology 70 (3), 358-370, 2017 | 27 | 2017 |
| Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum A Iwanaga, Y Okubo, M Yozaki, Y Koike, Y Kuwatsuka, S Tomimura, ... The Journal of Dermatology 44 (6), 644-650, 2017 | 26 | 2017 |
| Agile parallel bioinformatics workflow management using Pwrake H Mishima, K Sasaki, M Tanaka, O Tatebe, K Yoshiura BMC Research Notes 4 (1), 331, 2011 | 25 | 2011 |
Shinji Ono長崎大学Verified email at nagasaki-u.ac.jp
