| A genome-wide association study identifies RNF213 as the first Moyamoya disease gene F Kamada, Y Aoki, A Narisawa, YU Abe, S Komatsuzaki, A Kikuchi, ... Journal of human genetics 56 (1), 34-40, 2011 | 697 | 2011 |
| Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans A Narisawa, S Komatsuzaki, A Kikuchi, T Niihori, Y Aoki, K Fujiwara, ... Human molecular genetics 21 (7), 1496-1503, 2012 | 144 | 2012 |
| Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier, JA Lawson, W Tan, ... Nature communications 9 (1), 1960, 2018 | 118 | 2018 |
| Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for … S Sonobe, M Fujimura, K Niizuma, Y Nishijima, A Ito, H Shimizu, A Kikuchi, ... Brain research 1552, 64-71, 2014 | 111 | 2014 |
| 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 | 110 | 2016 |
| De novo GABRA1 mutations in Ohtahara and West syndromes H Kodera, C Ohba, M Kato, T Maeda, K Araki, D Tajima, M Matsuo, ... Epilepsia 57 (4), 566-573, 2016 | 98 | 2016 |
| Genomic analysis identifies masqueraders of full‐term cerebral palsy Y Takezawa, A Kikuchi, K Haginoya, T Niihori, Y Numata‐Uematsu, T Inui, ... Annals of Clinical and Translational Neurology 5 (5), 538-551, 2018 | 88 | 2018 |
| Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease A Ito, M Fujimura, K Niizuma, A Kanoke, H Sakata, Y Morita-Fujimura, ... Brain research 1594, 310-320, 2015 | 82 | 2015 |
| Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome N Hino-Fukuyo, A Kikuchi, N Arai-Ichinoi, T Niihori, R Sato, T Suzuki, ... Human genetics 134, 649-658, 2015 | 72 | 2015 |
| Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13 A Kikuchi, N Arai-Ichinoi, O Sakamoto, Y Matsubara, T Saheki, ... Molecular Genetics and Metabolism 105 (4), 553-558, 2012 | 58 | 2012 |
| Biallelic GALM pathogenic variants cause a novel type of galactosemia Y Wada, A Kikuchi, N Arai-Ichinoi, O Sakamoto, Y Takezawa, S Iwasawa, ... Genetics in Medicine 21 (6), 1286-1294, 2019 | 54 | 2019 |
| Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference J Takayama, S Tadaka, K Yano, F Katsuoka, C Gocho, T Funayama, ... Nature communications 12 (1), 226, 2021 | 42 | 2021 |
| Asymptomatic congenital cytomegalovirus infection with neurological sequelae: a retrospective study using umbilical cord M Uematsu, K Haginoya, A Kikuchi, N Hino-Fukuyo, K Ishii, T Shiihara, ... Brain and Development 38 (9), 819-826, 2016 | 40 | 2016 |
| Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma M Kanamori, A Kikuchi, M Watanabe, I Shibahara, R Saito, Y Yamashita, ... Journal of neurosurgery 120 (6), 1288-1297, 2014 | 39 | 2014 |
| Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy N Arai-Ichinoi, M Uematsu, R Sato, T Suzuki, H Kudo, A Kikuchi, ... Human genetics 135, 89-98, 2016 | 33 | 2016 |
| Recurrent de novo MAPK8IP3 variants cause neurological phenotypes S Iwasawa, K Yanagi, A Kikuchi, Y Kobayashi, K Haginoya, H Matsumoto, ... Annals of neurology 85 (6), 927-933, 2019 | 32 | 2019 |
| Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal‐sized platelets M Ouchi‐Uchiyama, Y Sasahara, A Kikuchi, K Goi, T Nakane, M Ikeno, ... Pediatric Blood & Cancer 62 (12), 2082-2088, 2015 | 32 | 2015 |
| Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination R Sato, N Arai‐Ichinoi, A Kikuchi, T Matsuhashi, Y Numata‐Uematsu, ... Clinical genetics 93 (2), 242-247, 2018 | 31 | 2018 |
| Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake T Nakayama, S Tanaka, M Uematsu, A Kikuchi, N Hino-Fukuyo, ... Brain and Development 36 (2), 143-147, 2014 | 31 | 2014 |
| Targeted sequencing and immunological analysis reveal the involvement of primary immunodeficiency genes in pediatric IBD: a Japanese multicenter study T Suzuki, Y Sasahara, A Kikuchi, H Kakuta, T Kashiwabara, T Ishige, ... Journal of clinical immunology 37, 67-79, 2017 | 30 | 2017 |
