Genetic analysis for patients with undiagnosed diseases to establish new diseases
Metagenome analysis for allergic diseases
Educational support for students with chronic diseases

• 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.

Japan Pediatric Society
Japanese Society of Allergology
The Japan Society of Human Genetics
The Japan Society of Pediatric Genetics
The Japanese Teratology Society

Vice Chair, Ibaraki Pediatric Allergy Study Group

https://trios.tsukuba.ac.jp/en/researcher/0000004769 (Univ. of Tsukuba Researchers Information)