Masamune Sakamoto

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

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini et al. · The American Journal of Human Genetics · 2023 · 39 citations · Full text

Neuromodulation (Medicine), Neurophysiology, Progressive Neurodegeneration +8

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama et al. · Human Mutation · 2020 · 34 citations

Efficient Detection, Exome Sequencing, Genetics +19

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi et al. · Journal of Human Genetics · 2020 · 23 citations

Novel Exosc9 Variants, Neurodegenerative Diseases, Cerebellar Atrophy +11

<i>De novo ARF3</i> variants cause neurodevelopmental disorder with brain abnormality

Masamune Sakamoto, Kazunori Sasaki, Atsushi Sugie et al. · Human Molecular Genetics · 2021 · 23 citations · Full text