Ken Saida

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi et al. · Genome Medicine · 2022 · 52 citations · Full text

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G. Sadleir, Reza Asadollahi et al. · The American Journal of Human Genetics · 2018 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, F-box Protein Fbxo11 +15

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

David B. Beck, Mohammed A. Basar, Anthony J. Asmar et al. · Science Advances · 2021 · 47 citations · Full text