Yasuhiro Utsuno
机构：Asahikawa Medical University, Yokohama City University · ORCID：0000-0002-7889-0328
发表论文 6 篇 · 总被引 31 次 · h-index 3
代表论文
- Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders (2023 · Journal of Human Genetics · 被引 13)
- A novel NONO variant that causes developmental delay and cardiac phenotypes (2023 · Scientific Reports · 被引 11)
- Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)
- Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders (2025 · Journal of Human Genetics · 被引 1)
- A practical framework for predicting splicing single nucleotide variants in exome sequencing (2025 · NAR Genomics and Bioinformatics)
- Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes (2023 · Scientific Reports)