Tomoki Kosho

机构：Shinshu University, Shinshu University Hospital, Shinshu Medical and Welfare College, Ōtani University · ORCID：0000-0002-8344-7507

发表论文 245 篇 · 总被引 7644 次 · h-index 37

代表论文

• JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease (2024 · Circulation Journal · 被引 23)
• Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing (2023 · Nucleic Acids Research · 被引 18)
• A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency (2023 · The Journal of Clinical Endocrinology & Metabolism · 被引 14)
• Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype (2024 · Frontiers in Genetics · 被引 11)
• Clinical Impact of Genetic Testing for Long QT Syndrome　― Evidence From a Nationwide LQTS Registry in Japan ― (2025 · Circulation Journal · 被引 8)
• JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease (2025 · Journal of Cardiology · 被引 6)