| 1. |
|
Saito-Hakoda Akiko, Kikuchi Atsuo, Takahashi Tadahisa, et al. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). Journal of Bone and Mineral Metabolism. 2023; 41 (2): 193-202. doi:10.1007/s00774-022-01392-w |
|
| 2. |
|
Nishioka Masaki, Takayama Jun, Sakai Naomi, et al. Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder. Molecular Psychiatry. 2023; : . doi:10.1038/s41380-023-02096-x |
|
| 3. |
|
Uneoka Saki, Kobayashi Tomoko, Numata-Uematsu Yurika, et al. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. Pediatric Neurology. 2023; 146 : 16-20. doi:10.1016/j.pediatrneurol.2023.06.002 |
|
| 4. |
|
Katata Yu, Uneoka Saki, Saijyo Naoya, et al. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. American Journal of Medical Genetics Part A. 2022; 188 (4): 1293-1298. doi:10.1002/ajmg.a.62629 |
|
| 5. |
|
Shibuya Moriei, Yaoita Hisao, Kodama Kaori, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain and Development. 2022; 44 (1): 63-67. doi:10.1016/j.braindev.2021.08.004 |
|
| 6. |
|
Otsuki Akihito, Okamura Yasunobu, Ishida Noriko, et al. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. Communications Biology. 2022; 5 (1): 991. doi:10.1038/s42003-022-03953-1 |
|
| 7. |
|
Kanoni Stavroula, Graham Sarah E., Wang Yuxuan, et al. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biology. 2022; 23 (1): 268. doi:10.1186/s13059-022-02837-1 |
|
| 8. |
|
Kikuchi Daisuke, Obara Taku, Miura Ryosuke, et al. Response to “Scaling up monitoring of risk minimization measures in women of childbearing age with anti-seizure medicines”. Seizure. 2022; 100 (1): 117-118. doi:10.1016/j.seizure.2022.06.014 |
|
| 9. |
|
Ramdas Shweta, Judd Jonathan, Graham Sarah E., et al. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. The American Journal of Human Genetics. 2022; 109 (8): 1366-1387. doi:10.1016/j.ajhg.2022.06.012 |
|
| 10. |
|
Narishige Yuta, Yaoita Hisao, Shibuya Moriei, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. The Tohoku Journal of Experimental Medicine. 2022; 256 (4): 2022.J010. doi:10.1620/tjem.2022.J010 |
|
| 11. |
|
Takayama Jun, Tadaka Shu, Yano Kenji, et al. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference. Nature Communications. 2021; 12 (1): 226. doi:10.1038/s41467-020-20146-8 |
|
| 12. |
|
Tadaka Shu, Hishinuma Eiji, Komaki Shohei, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Research. 2021; 49 (D1): D536-D544. doi:10.1093/nar/gkaa1034 |
|