Tomohide Goto

机构：Kanagawa Children's Medical Center · ORCID：0000-0002-5791-4837

发表论文 106 篇 · 总被引 2282 次 · h-index 24

代表论文

• Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies (2021 · Journal of Human Genetics · 被引 16)
• Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series (2021 · Epilepsia Open · 被引 11)
• Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation (2021 · Pediatrics International · 被引 9)
• Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy (2022 · Genetics in Medicine · 被引 7)
• Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)
• Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants (2025 · Journal of Medical Genetics · 被引 6)