Kazuhiro Iwama

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

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Kohei Hamanaka, Satoko Miyatake, Eriko Koshimizu et al. · Genetics in Medicine · 2018 · 44 citations · Full text

Bioinformatics, Rare Diseases, Dna Sequencing +11

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita et al. · Journal of Medical Genetics · 2019 · 42 citations

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi et al. · Journal of Human Genetics · 2016 · 39 citations

Biallelic Sepsecs Mutations, Mendelian Disorder, Genetic Disorder +6