Eri Imagawa

10PUBLICATIONS
15CO-AUTHORS
Immunogenetics (incl. genetic immunology)Medical biochemistry - amino acids and metabolitesNeonatologyEpigenetics (incl. genome methylation and epigenomics)Haematology
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Publications (10)

|Jul 21, 2026
Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.

|Jun 12, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.

Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida

|Jun 02, 2023
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.

Eri Imagawa, Latisha Moreta, Vinod K Misra

|Jan 16, 2023
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Eri Imagawa, Rie Seyama, Hiromi Aoi

|Sep 10, 2020
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.

Kimihiko Oishi, Casey Siegel, Emalyn E Cork

|Jul 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Yuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima

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Frequent Collaborators

4 joint publications

Noriko Miyake

3 joint publications

Kimihiko Oishi

2 joint publications

Yuri Uchiyama

2 joint publications

Naomichi Matsumoto