Masamune Sakamoto

机构：Yokohama City University · ORCID：0000-0002-6017-3005

发表论文 33 篇 · 总被引 311 次 · h-index 10

代表论文

• Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants (2022 · Genome Medicine · 被引 54)
• Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration (2023 · The American Journal of Human Genetics · 被引 45)
• Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders (2023 · Journal of Human Genetics · 被引 13)
• Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants (2022 · Clinical Genetics · 被引 11)
• A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities (2023 · Journal of Human Genetics · 被引 10)
• A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation (2023 · Brain and Development · 被引 10)