Rumiko Kato

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda et al. · The American Journal of Human Genetics · 2011 · 72 citations · Full text

Molecular Neuroscience, Autosomal-recessive Spinocerebellar Ataxia, Mendelian Disorder +12

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · npj Genomic Medicine · 2022 · 72 citations · Full text

Engineering, Genetics, Diagnosis +26

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia‐like syndrome

Toshiro Nagai, Gen Nishimura, Rumiko Kato et al. · American Journal of Medical Genetics · 1995 · 43 citations

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome

Satoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu et al. · Brain · 2021 · 31 citations · Full text

Efficacy and safety of oral propranolol for infantile hemangioma in Japan

Tsuyoshi Kaneko, Satoru Sasaki, Naoko Baba et al. · Pediatrics International · 2017 · 26 citations · Full text