Kosuke Izumi

16PUBLICATIONS
170CO-AUTHORS
Gene mappingNeurogeneticsCell and nuclear divisionGene expression (incl. microarray and other genome-wide approaches)Cardiology (incl. cardiovascular diseases)
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Publications (16)

|Aug 26, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

|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

|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

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Frequent Collaborators

8 joint publications

Alyssa Ritter

4 joint publications

Elizabeth J Bhoj

3 joint publications

Emma C Bedoukian

2 joint publications

Cristina Peduto