Life sciences, Hematology and oncology

Genomic copy number analysis using droplet digital PCR: A simple method with EvaGreen single-color fluorescent design.
Tamura T.; Imaizumi T.; Shimojima Yamamoto K.; Yamamoto T.
Methods in Molecular Biology, 2024

Clonal hematopoiesis without malignant transformation lasting over 2 years in a 9-year-old boy, following treatment for acute lymphocytic leukemia.
Yagasaki H.; Shimozawa K.; Kanezawa K.; Tamura T.; Kamiyama M.; Yamamoto T.; Morioka I.
Journal of Pediatric Hematology and Oncology, 2024

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia and seizures.
Tamura T.; Shimojima Yamamoto K.; Tohyama J.; Morioka I.; Kanno H.; Yamamoto T.
Journal of Human Genetics, 2024

【今月の症例】4歳男児，急性リンパ芽球性白血病
山口 喬; 青木亮二; 中原衣里菜; 伊東正剛; 田村豪良; 金澤剛二; 下澤克宜; 森岡一朗; 岡田真広; 宮崎 治
小児科臨床, 2024

Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
Tamura T; Shimojima Yamamoto K; Imaizumi T; Yamamoto H; Miyamoto Y; Yagasaki H; Morioka I; Kanno H; Yamamoto T
American Journal of Medical Genetics Part A, 2023
Lead

Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.
Shimojima Yamamoto K; Tamura T; Okamoto N; Nishi E; Noguchi A; Takahashi I; Sawaishi Y; Shimizu M; Kanno H; Minakuchi Y; Toyoda A; Yamamoto T
Journal of Human Genetics, 2023

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Tamura T; Yamamoto-Shimojima K; Shiihara T; Sakazume S; Okamoto N; Yagasaki H; Morioka I; Kanno H; Yamamoto T
American Journal of Medical Genetics Part A, 2023
Lead

Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
Tamura T; Yamamoto-Shimojima K; Okamoto N; Yagasaki H; Morioka I; Kanno H; Minakuchi Y; Toyoda A; Yamamoto T
American Journal of Medical Genetics Part A, 2023
Lead

A Filipino infant with severe neutropenia owing to SRP54 mutations was successfully treated with ethnically mismatched cord blood transplantation from a Japanese cord blood bank.
Tamura T; Yagasaki H; Nakahara E; Ito M; Ueno M; Kanezawa K; Hirai M; Morioka I
Annals of Hematology, 2021
Lead