Kaori Yamoto

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

Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto et al. · Human Genetics · 2018 · 75 citations

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +8

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa et al. · Journal of Human Genetics · 2019 · 70 citations

Developmental Anomaly, Developmental Biology, Syndromic Autism +7

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

Takuya Hiraide, Kaori Yamoto, Yohei Masunaga et al. · Clinical Genetics · 2021 · 41 citations

De novo<i>IGF2</i>mutation on the paternal allele in a patient with Silver–Russell syndrome and ectrodactyly

Kaori Yamoto, Hirotomo Saitsu, Norio Nakagawa et al. · Human Mutation · 2017 · 36 citations

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features

Tokiko Fukuda, Takuya Hiraide, Kaori Yamoto et al. · European Journal of Medical Genetics · 2019 · 18 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8