Chizuru Seiwa

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki et al. · Cell Reports · 2018 · 179 citations · Full text

Various types of <i>LRP5</i> mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

Satoshi Narumi, Chikahiko Numakura, Takashi Shiihara et al. · American Journal of Medical Genetics Part A · 2009 · 38 citations

Mendelian Disorder, Splice Site Mutation, Medicine +15

Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1

Akiko Abe, Kazuyuki Nakamura, Mitsuhiro Kato et al. · Journal of Human Genetics · 2010 · 18 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Molecular diagnosis of 405 individuals with autism spectrum disorder

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai et al. · European Journal of Human Genetics · 2023 · 17 citations · Full text