Tadashi Kaname

机构：National Center For Child Health and Development · ORCID：0000-0003-0281-9610

发表论文 189 篇 · 总被引 3159 次 · h-index 25

代表论文

• Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population (2024 · Frontiers in Neuroscience · 被引 8)
• Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome- (2024 · Journal of Human Genetics · 被引 7)
• JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease (2025 · Journal of Allergy and Clinical Immunology · 被引 5)
• A Clinical Study of Nine Patients With ReNU Syndrome (2025 · American Journal of Medical Genetics Part A · 被引 5)
• VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance (2025 · Computational and Structural Biotechnology Journal · 被引 5)
• Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B cells (2025 · Genome biology · 被引 4)