Naomichi Matsumoto

机构：Yokohama City University Hospital, National Center of Neurology and Psychiatry, Yamaguchi Red Cross Hospital, Yokohama City University · ORCID：0000-0001-9846-6500

发表论文 1394 篇 · 总被引 39628 次 · h-index 86

代表论文

• High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study (2025 · Modern Rheumatology · 被引 5)
• An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation (2026 · Science Immunology · 被引 3)
• Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025 · Nature Genetics · 被引 3)
• Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders (2025 · Journal of Human Genetics · 被引 1)
• Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability (2025 · The American Journal of Human Genetics · 被引 1)
• Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity (2025 · Journal of Human Genetics · 被引 1)