Kosuke Izumi
15PUBLICATIONS
155CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (15)
Sort by Publication Date:
|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer
|Mar 17, 2023
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.Kelly E Regan-Fendt, Kosuke Izumi
|Mar 08, 2023
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.Mehul Sharma, Daniel Leung, Mana Momenilandi
|Jul 14, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama
|May 02, 2022
MYH7 variants cause complex congenital heart disease.Alyssa Ritter, Jacqueline Leonard, Christopher Gray
|Jan 24, 2022
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.Amanda Barone Pritchard, Kosuke Izumi, Irma Payan-Walters
Pageof 3
Frequent Collaborators
7 joint publications
Alyssa Ritter
4 joint publications
Elizabeth J Bhoj
3 joint publications
Emma C Bedoukian
2 joint publications
Anne-Sophie Denommé-Pichon
1 joint publications
E Salzano
1 joint publications
Nobuhiko Okamoto
1 joint publications
Noriko Miyake
1 joint publications
Jennifer L Cohen
1 joint publications
Samantha A Schrier Vergano
1 joint publications
Sarah E Sheppard
