Eri Imagawa (E Imagawa)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 14

Top Topics

Binding Protein

African American

Inflammatory Response

Top Venues

Clinical genetics

Human genome variation

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Human genome variation 11 (1) (2024)
Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Human genome variation 11 (1) (2024)
Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Human genome variation 11 (1) (2024)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Latisha Moreta, Vinod K Misra, Claire Newman, Tsuyoshi Konuma, Kimihiko Oishi
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10. Journal of human genetics (2023)
Kimihiko Oishi, Casey Siegel, Emalyn E Cork, Hongjie Chen, Eri Imagawa
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake. Journal of human genetics 66 (3) (2020)
Eri Imagawa, Y Yamamoto, S Mitsuhashi, B Isidor, T Fukuyama, M Kato, M Sasaki, S Tanabe, S Miyatake, T Mizuguchi, A Takata, Noriko Miyake, N Matsumoto
PRUNE1-related disorder: Expanding the clinical spectrum. Clinical genetics 94 (3-4) (2018)
Eri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Margaret C S Boguszewski, César L Boguszewski, Antonio M Lerario, Mariana F A Funari, Alexander A L Jorge, Naomichi Matsumoto
Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics 94 (5) (2018)
Kohei Hamanaka, K Takahashi, S Miyatake, S Mitsuhashi, H Hamanoue, Y Miyaji, R Fukai, H Doi, A Fujita, Eri Imagawa, Kazuhiro Iwama, M Nakashima, T Mizuguchi, A Takata, Noriko Miyake, H Takeuchi, F Tanaka, N Matsumoto
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. Clinical genetics 94 (2) (2018)
Yuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, Masaaki Shiina, Yoshiyuki Ogawa, Mitsuko Nakashima, Junko Hirato, Eri Imagawa, Atsushi Fujita, Kohei Hamanaka, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Hiroshi Handa, Naomichi Matsumoto, Takeshi Mizuguchi
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Clinical genetics 94 (6) (2018)