Research output per year
Research output per year
Fingerprint
Dive into the research topics where Kosuke Izumi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
Uguen, K., Bergot, T., Scott-Boyer, M. P., Chapalain, S., Desdouets, C., Commet, S., Zhu, C., Xu, Y., Wang, Y., Roscioli, T., Tran-Mau-Them, F., Faivre, L., Maraval, J., Delanne, J., Denommé-Pichon, A. S., Vitobello, A., Jost, C., Planes, M., Hiatt, S. & Wheeler, P. & 47 others, , Dec 2026, In: Nature communications. 17, 1, 1569.Research output: Contribution to journal › Article › peer-review
Open Access -
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome
Iwata-Otsubo, A., Rippert, A. L., Balciuniene, J., Fiordaliso, S. K., Chen, R., Markose, P., Skraban, C. M., Gray, C., Zackai, E. H., Dubbs, H. A., Deardorff, M. A., Conlin, L. K. & Izumi, K., Feb 2025, In: Genes. 16, 2, 136.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes
Sakata, T., Tei, S., Izumi, K., Krantz, I. D., Bando, M. & Shirahige, K., Mar 24 2025, In: Current Biology. 35, 6, p. 1353-1363.e5Research output: Contribution to journal › Article › peer-review
Open Access6 Link opens in a new tab Scopus citations -
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital
Dortenzio, V., Barbaric, L., Rosenfeld, E., Dechene, E. T., Gilbert, M. A., Dulik, M. C., Rippert, A. L. & Izumi, K., Jun 2025, In: American Journal of Medical Genetics, Part A. 197, 6, e64003.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry
Brain Gene Registry Consortium & PRO Payne, Sep 2025, In: Clinical Genetics. 108, 3, p. 279-291 13 p.Research output: Contribution to journal › Article › peer-review
Open Access