| 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 | 205 | 2012 |
| Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred S Ono, T Tanaka, M Ishida, A Kinoshita, J Fukuoka, M Takaki, ... European Respiratory Journal 38 (4), 861-869, 2011 | 103 | 2011 |
| Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions S Ono, K Yoshiura, A Kinoshita, T Kikuchi, Y Nakane, N Kato, ... Journal of human genetics 57 (5), 338-341, 2012 | 100 | 2012 |
| DNA methylation signatures of peripheral leukocytes in schizophrenia M Kinoshita, S Numata, A Tajima, S Shimodera, S Ono, A Imamura, J Iga, ... Neuromolecular medicine 15, 95-101, 2013 | 95 | 2013 |
| 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 | 74 | 2019 |
| Abrogation of ER stress-induced apoptosis of alveolar epithelial cells by angiotensin 1–7 BD Uhal, H Nguyen, MT Dang, I Gopallawa, J Jiang, V Dang, S Ono, ... American Journal of Physiology-Lung Cellular and Molecular Physiology 305 (1 …, 2013 | 59 | 2013 |
| Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia S Ono, A Imamura, S Tasaki, N Kurotaki, H Ozawa, K Yoshiura, Y Okazaki Twin Research and Human Genetics 13 (5), 455-460, 2010 | 32 | 2010 |
| Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis N Kurotaki, S Tasaki, H Mishima, S Ono, A Imamura, T Kikuchi, N Nishida, ... PLoS One 6 (5), e20589, 2011 | 25 | 2011 |
| Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome T Takahata, K Yamada, Y Yamada, S Ono, A Kinoshita, T Matsuzaka, ... Journal of human genetics 55 (3), 142-146, 2010 | 25 | 2010 |
| Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease Y Morimoto, S Ono, A Imamura, Y Okazaki, A Kinoshita, H Mishima, ... Human Genome Variation 4 (1), 1-6, 2017 | 23 | 2017 |
| Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder Y Morimoto, M Shimada-Sugimoto, T Otowa, S Yoshida, A Kinoshita, ... Translational psychiatry 8 (1), 41, 2018 | 21 | 2018 |
| Modified electroconvulsive therapy for the treatment of refractory schizophrenia-like psychosis associated with Huntington’s disease T Nakano, S Ono, J Yamaguchi, R Sugimoto, N Yamaguchi, Y Morimoto, ... Journal of neurology 260, 312-314, 2013 | 20 | 2013 |
| De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity A Nishi, S Numata, A Tajima, X Zhu, K Ito, A Saito, Y Kato, M Kinoshita, ... Scientific reports 7 (1), 2887, 2017 | 18 | 2017 |
| HLA class I distribution in Japanese patients with schizophrenia S Matsumoto, T Sasaki, A Imamura, K Matsuo, T Kayashima, A Hashida, ... American journal of medical genetics 114 (1), 42-45, 2002 | 9 | 2002 |
| Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families S Ono, K Yoshiura, N Kurotaki, T Kikuchi, N Niikawa, A Kinoshita Movement Disorders 26 (4), 762-764, 2011 | 6 | 2011 |
| Genomic structural variation in affective, anxiety, and stress-related disorders S Ono, K Domschke, J Deckert Journal of Neural Transmission 122, 69-78, 2015 | 5 | 2015 |
