Keiko Yamamoto-Shimojima

Tokyo, Japan

Last Updated: 09/26/2026

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Found 27 publications

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Journal: Human genome variation

Published: September 12, 2022

Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.

Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.

Journal: American journal of medical genetics. Part A

Published: May 22, 2022

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.

Journal: American journal of medical genetics. Part A

Published: May 12, 2022

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Journal: Human genome variation

Published: July 20, 2021

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Journal: Human genome variation

Published: March 11, 2021

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Journal: Human genome variation

Published: November 05, 2020

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Journal: Human genome variation

Published: July 31, 2020

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.

Journal: Human mutation

Published: June 21, 2020

Molecular Profiles of Breast Cancer in a Single Institution.

Molecular Profiles of Breast Cancer in a Single Institution.

Journal: Anticancer research

Published: June 05, 2020

Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.

Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.

Journal: Congenital anomalies

Published: May 25, 2020

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.

Journal: Human genetics

Published: April 14, 2020

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Journal: Human genome variation

Published: March 01, 2020

Showing 1-12 of 27

Last Updated: 09/26/2026