| 主要業績 |
- Suzuki H, Muramatsu Y, Miya F, Asada H, Yamada M, Nishimura G, Kosaki K, Takenouchi T. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype. Eur J Med Genet, Vol.70, 104955, 2024.
- Suzuki H, Aoki K, Kurosawa K, Imagawa K, Ohto T, Yamada M, Takenouchi T, Kosaki K, Ishitani T. De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence. Hum Mol Genet, Vol.31, 3846-54, 2022.
- Suzuki H, Li S, Tokutomi T, Takeuchi C, Takahashi M, Yamada M, Okuno H, Miya F, Takenouchi T, Numabe H, Kosaki K, Ohshima T. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Hum Mol Genet, Vol.31, 4173-82, 2022.
- Suzuki H, Nozaki M, Yoshihashi H, Imagawa K, Kajikawa D, Yamada M, Yamaguchi Y, Morisada N, Eguchi M, Ohashi S, Ninomiya S, Seto T, Tokutomi T, Hida M, Toyoshima K, Kondo M, Inui A, Kurosawa K, Kosaki R, Ito Y, Okamoto N, Kosaki K, Takenouchi T. Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations. J Pediatr, Vol.244, 38-48 e1, 2022.
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