Author

K. Kosaki

3 papers indexed here

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Open access Jul 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening

Reanalyzed whole-genome sequencing data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including RNU4-2, RNU2-2, RNU5B-1, and RNU4ATAC, and developed an snRNA-extended WES approach by incorporating capture probes targeting 50 snRNA genes into a standard exome design.

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda et al. · iScience · 0 citations

Review Jul 2026

A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan.

Challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan are identified through a survey of obstetricians and gynecologists, and doctors certified in perinatal genetics were more likely to cite social issues and the presence of non-certified facilities.

Yuka Shibata, Takahiro Yamada, N. Shirato et al. · Journal of Human Genetics · 0 citations

Open access Jan 2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia‐Like Phenotype

The findings establish a causal link between MSX2 upstream duplications and CCD‐like phenotypes, emphasizing the role of epigenetic mechanisms and TAD structures in regulating skeletal development.

Mamiko Yamada, M. Cleghorn, Prabhakara Krishnamurthy et al. · Human Mutation · 0 citations