| De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance C Ohba, K Haginoya, H Osaka, K Kubota, A Ishiyama, T Hiraide, ... Journal of human genetics 60 (12), 739-742, 2015 | 71 | 2015 |
| De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism T Hiraide, M Nakashima, K Yamoto, T Fukuda, M Kato, H Ikeda, Y Sugie, ... Human genetics 137, 95-104, 2018 | 68 | 2018 |
| Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures M Nakashima, J Tohyama, E Nakagawa, Y Watanabe, CG Siew, ... Journal of human genetics 64 (4), 313-322, 2019 | 65 | 2019 |
| Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1, 4, 5-triphosphate receptor type 1 gene M Sasaki, C Ohba, M Iai, S Hirabayashi, H Osaka, T Hiraide, H Saitsu, ... Journal of neurology 262, 1278-1284, 2015 | 60 | 2015 |
| De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences T Hiraide, A Hattori, D Ieda, I Hori, S Saitoh, M Nakashima, H Saitsu Epilepsia Open 4 (3), 476-481, 2019 | 35 | 2019 |
| POLR3A variants in striatal involvement without diffuse hypomyelination T Hiraide, K Kubota, Y Kono, S Watanabe, T Matsubayashi, M Nakashima, ... Brain and Development 42 (4), 363-368, 2020 | 24 | 2020 |
| Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing T Hiraide, K Yamoto, Y Masunaga, M Asahina, Y Endoh, Y Ohkubo, ... Clinical Genetics 100 (1), 40-50, 2021 | 23 | 2021 |
| A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly T Hiraide, H Kaba Yasui, M Kato, M Nakashima, H Saitsu Journal of Human Genetics 64 (11), 1127-1132, 2019 | 19 | 2019 |
| Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy T Hiraide, M Nakashima, T Ikeda, D Tanaka, H Osaka, H Saitsu Journal of human genetics 65 (10), 921-925, 2020 | 16 | 2020 |
| Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features T Fukuda, T Hiraide, K Yamoto, M Nakashima, T Kawai, K Yanagi, ... European journal of medical genetics 63 (4), 103804, 2020 | 16 | 2020 |
| A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination S Miyamoto, M Nakashima, T Ohashi, T Hiraide, K Kurosawa, ... Molecular genetics & genomic medicine 7 (8), e814, 2019 | 14 | 2019 |
| A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay S Fukumura, T Hiraide, A Yamamoto, K Tsuchida, K Aoto, M Nakashima, ... Brain and Development 44 (2), 178-183, 2022 | 13 | 2022 |
| Three cases of hemiconvulsion-hemiplegia-epilepsy syndrome with focal cortical dysplasia type IIId S Itamura, T Okanishi, Y Arai, M Nishimura, S Baba, N Ichikawa, ... Frontiers in Neurology 10, 1233, 2019 | 12 | 2019 |
| A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder T Hiraide, S Watanabe, T Matsubayashi, K Yanagi, M Nakashima, ... Molecular genetics & genomic medicine 8 (3), e1145, 2020 | 11 | 2020 |
| Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing T Hiraide, K Shimizu, S Miyamoto, K Aoto, M Nakashima, T Yamaguchi, ... Journal of Human Genetics 67 (7), 387-392, 2022 | 9 | 2022 |
| Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant T Hiraide, T Tanaka, Y Masunaga, Y Ohkubo, M Nakashima, T Fukuda, ... Journal of Human Genetics 66 (12), 1185-1187, 2021 | 9 | 2021 |
| HECW2‐related disorder in four Japanese patients T Yanagishita, T Hirade, K Shimojima Yamamoto, M Funatsuka, ... American Journal of Medical Genetics Part A 185 (10), 2895-2902, 2021 | 9 | 2021 |
| Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases T Hiraide, T Ogata, S Watanabe, M Nakashima, T Fukuda, H Saitsu Brain and Development 41 (5), 474-479, 2019 | 7 | 2019 |
| Childhood-onset multifocal motor neuropathy with immunoglobulin M antibodies to gangliosides GM1 and GM2: a case report and review of the literature H Ishigaki, T Hiraide, Y Miyagi, T Hayashi, T Matsubayashi, A Shimoda, ... Pediatric neurology 62, 51-57, 2016 | 7 | 2016 |
| Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies S Miyamoto, M Kato, T Hiraide, T Shiohama, T Goto, A Hojo, A Ebata, ... Journal of Human Genetics 66 (11), 1061-1068, 2021 | 6 | 2021 |
