Yoichi Matsubara

机构：National Center For Child Health and Development · ORCID：0000-0001-5990-8214

发表论文 1555 篇 · 总被引 13984 次 · h-index 59

代表论文

• Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis (2020 · Gastroenterology · 被引 124)
• Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes (2019 · Journal of Investigative Dermatology · 被引 77)
• STAT6 gain-of-function variant exacerbates multiple allergic symptoms (2022 · Journal of Allergy and Clinical Immunology · 被引 67)
• Recurrent de novo MAPK8IP3 variants cause neurological phenotypes (2019 · Annals of Neurology · 被引 54)
• Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures (2022 · Journal of Human Genetics · 被引 48)
• Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes (2024 · npj Genomic Medicine · 被引 42)