Saitsu, Hirotomo

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., et al. (2013) · Nature Genetics

Neurological diseases and metabolismAutophagy in Disease and Therapy

Cited by 474

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 201

Early onset epileptic encephalopathy caused by de novo SCN 8A mutations

Ohba, C., Kato, M., Takahashi, S., Lerman‐Sagie, T., Lev, D., Terashima, H., Kubota, M., Kawawaki, H., Matsufuji, M., Kojima, Y., et al. (2014) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 158

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 156

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A

Chromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders

Cited by 101

De novo variants in CAMK 2A and CAMK 2B cause neurodevelopmental disorders

Akita, T., Aoto, K., Kato, M., Shiina, M., Mutoh, H., Nakashima, M., Kuki, I., Okazaki, S., Magara, S., Shiihara, T., et al. (2018) · Annals of Clinical and Translational Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 87

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 84

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Nakashima, M., Kato, M., Aoto, K., Shiina, M., Belal, H., Mukaida, S., Kumada, S., Sato, A., Zerem, A., Lerman‐Sagie, T., et al. (2018) · Annals of Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 80

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., et al. (2018) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

The molecular and phenotypic spectrum of IQSEC 2‐related epilepsy

Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., Shoubridge, C., Palmer, E. E., Field, M., Boyle, J., et al. (2016) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 59

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Saitsu, H., Tohyama, J., Walsh, T., Kato, M., Kobayashi, Y., Lee, M., Tsurusaki, Y., Miyake, N., Goto, Y.-I., Nishino, I., et al. (2014) · Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Sakamoto, M., Iwama, K., Sekiguchi, F., Mashimo, H., Kumada, S., Ishigaki, K., Okamoto, N., Behnam, M., Ghadami, M., Koshimizu, E., et al. (2021) · Journal of Human Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 26

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Nakayama, T., Saitsu, H., Endo, W., Kikuchi, A., Uematsu, M., Haginoya, K., Hino-fukuyo, N., Kobayashi, T., Iwasaki, M., Tominaga, T., et al. (2014) · Brain and Development

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 11

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

Tsurusaki, Y., Okamoto, N., Suzuki, Y., Doi, H., Saitsu, H., Miyake, N., & Matsumoto, N. (2011) · Clinical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

Bayam, E., Tilly, P., Collins, S. C., Rivera Alvarez, J., Kannan, M., Tonneau, L., Brivio, E., Rinaldi, B., Lecat, R., Schwaller, N., et al. (2025) · EMBO Molecular Medicine

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 2