| An atlas of active enhancers across human cell types and tissues R Andersson, C Gebhard, I Miguel-Escalada, I Hoof, J Bornholdt, M Boyd, ... Nature 507 (7493), 455-461, 2014 | 2725 | 2014 |
| BCG vaccination induces long-term functional reprogramming of human neutrophils SJ Moorlag, YA Rodriguez-Rosales, J Gillard, S Fanucchi, K Theunissen, ... Cell reports 33 (7), 2020 | 226 | 2020 |
| Molecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencing T Togawa, T Sugiura, K Ito, T Endo, K Aoyama, K Ohashi, Y Negishi, ... The Journal of pediatrics 171, 171-177. e4, 2016 | 115 | 2016 |
| Batf2/Irf1 induces inflammatory responses in classically activated macrophages, lipopolysaccharides, and mycobacterial infection S Roy, R Guler, SP Parihar, S Schmeier, B Kaczkowski, H Nishimura, ... The Journal of Immunology 194 (12), 6035-6044, 2015 | 107 | 2015 |
| Hemolytic disease of the fetus and newborn with late-onset anemia due to anti-M: a case report and review of the Japanese literature H Yasuda, H Ohto, KE Nollet, K Kawabata, S Saito, Y Yagi, Y Negishi, ... Transfusion medicine reviews 28 (1), 1-6, 2014 | 77 | 2014 |
| Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement I Hori, T Otomo, M Nakashima, F Miya, Y Negishi, H Shiraishi, Y Nonoda, ... Scientific reports 7 (1), 3552, 2017 | 62 | 2017 |
| Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome I Hori, F Miya, K Ohashi, Y Negishi, A Hattori, N Ando, N Okamoto, M Kato, ... American Journal of Medical Genetics Part A 170 (7), 1863-1867, 2016 | 48 | 2016 |
| Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms S Kobayashi, Y Negishi, N Ando, T Ito, M Nakano, H Togari, M Wakuda, ... European journal of pediatrics 169, 1287-1291, 2010 | 44 | 2010 |
| Truncating mutation in NFIA causes brain malformation and urinary tract defects Y Negishi, F Miya, A Hattori, K Mizuno, I Hori, N Ando, N Okamoto, M Kato, ... Human Genome Variation 2 (1), 1-4, 2015 | 33 | 2015 |
| Consortium R Andersson, C Gebhard, I Miguel-Escalada, I Hoof, J Bornholdt, M Boyd, ... TF, Forrest, ARR, Carninci, P., Rehli, M., Sandelin, A.: An atlas of active …, 2014 | 33 | 2014 |
| Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy Y Negishi, D Ieda, I Hori, Y Nozaki, T Yamagata, H Komaki, J Tohyama, ... Orphanet Journal of Rare Diseases 14, 1-7, 2019 | 30 | 2019 |
| Anti-M antibody induced prolonged anemia following hemolytic disease of the newborn due to erythropoietic suppression in 2 siblings A Ishida, H Ohto, H Yasuda, Y Negishi, H Tsuiki, T Arakawa, Y Yagi, ... Journal of Pediatric Hematology/Oncology 37 (6), e375-e377, 2015 | 30 | 2015 |
| A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly Y Negishi, F Miya, A Hattori, Y Johmura, M Nakagawa, N Ando, I Hori, ... BMC medical genetics 18, 1-10, 2017 | 28 | 2017 |
| CTCF deletion syndrome: clinical features and epigenetic delineation I Hori, R Kawamura, K Nakabayashi, H Watanabe, K Higashimoto, ... Journal of Medical Genetics 54 (12), 836-842, 2017 | 26 | 2017 |
| Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum Y Nakamura, Y Togawa, Y Okuno, H Muramatsu, K Nakabayashi, ... Brain and development 40 (2), 134-139, 2018 | 25 | 2018 |
| A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate K Kato, F Miya, I Hori, D Ieda, K Ohashi, Y Negishi, A Hattori, N Okamoto, ... Journal of Human Genetics 62 (9), 861-863, 2017 | 25 | 2017 |
| Homoplasmy of a mitochondrial 3697G> A mutation causes Leigh syndrome Y Negishi, A Hattori, E Takeshita, C Sakai, N Ando, T Ito, Y Goto, S Saitoh Journal of human genetics 59 (7), 405-407, 2014 | 23 | 2014 |
| COVID-19: A model correlating BCG vaccination to protection from mortality implicates trained immunity CM Green, S Fanucchi, J Dominguez-Andres, ET Fok, SJ Moorlag, ... MedRxiv, 2020.04. 10.20060905, 2020 | 22 | 2020 |
| Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism K Aoyama, H Mizuno, T Tanaka, T Togawa, Y Negishi, K Ohashi, I Hori, ... Journal of Pediatric Endocrinology and Metabolism 30 (10), 1111-1118, 2017 | 22 | 2017 |
| Identification of chromatin marks at TERRA promoter and encoding region Y Negishi, H Kawaji, A Minoda, K Usui Biochemical and biophysical research communications 467 (4), 1052-1057, 2015 | 22 | 2015 |
