Get started
Author

Yasuhiro Utsuno

Observed name: Utsuno, Yasuhiro
ORCID: 0000-0002-7889-0328
Observed ORCID: 0000-0002-7889-0328
OpenAlex ID: A5074989183
A novel NONO variant that causes developmental delay and cardiac phenotypes
2023 · Toshiyuki Itai, Atsushi Sugie, et al. · Scientific Reports · 16
PDF
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
2023 · Yasuhiro Utsuno, Keisuke Hamada, et al. · Journal of Human Genetics · 14
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay
2025 · Kohei Hamanaka, Atsushi Fujita, et al. · npj Genomic Medicine · 8
PDF
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
2025 · Yukina Hayashi, Kenta Kajiwara, et al. · Journal of Human Genetics · 2
A practical framework for predicting splicing single nucleotide variants in exome sequencing
2025 · Yasuhiro Utsuno, Kohei Hamanaka, et al. · NAR Genomics and Bioinformatics · 1
PDF
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes
2023 · Toshiyuki Itai, Atsushi Sugie, et al. · Scientific Reports
PDF
SOX30 might not be associated with Sertoli cell-only syndrome in azoospermic Japanese men
2020 · Toshinobu Miyamoto, Masashi Iijima, et al. · Integrative Molecular Medicine
PDF
Works count: 9
Citation count: 41
H-index: 3
I10-index: 2
Year
Topic
Type