研究業績

Paper 論文

2023年

Nakahara E, Shimojima Yamamoto K, OguraH, Aoki T, Utsugisawa T, Azuma K, Akagawa H, Watanabe K, Muraoka M, Nakamura F, Kamei M, Tatebayashi K, Shinozuka J, Yamane T, Hibino M, Katsura Y, Nakano-Akamatsu S, Kadowaki N, Maru Y, Ito E, Ohga S, Yagasaki H, Morioka I, Yamamoto T, Kanno H: Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Hum Genome Var 10: 8, 2023.

Tamura T, Yamamoto Shimojima K, Shiihara T, Sakazume S, Okamoto N, Yagasaki H, Morioka I, Kanno H, Yamamoto T：Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features. Am J Med Genet A 191: 400-7, 2023.

Tamura T, Shimojima Yamamoto K, Okamoto N, Yagasak H, Morioka I, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T：Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements. Am J Med Genet A 191: 112-9, 2023.

Kato K, Kuroda T, Yamadera‑Egawa R, Ezoe K, Aoyama N, Usami A, Miki T,Yamamoto T, Takeshita T: Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow‑up of Children, and Embryo Ranking. Reprod Sci 30: 974-83, 2023.

Kato K, Kuroda T, Yamadera‑Egawa R, Ezoe K, Aoyama N, Usami A, Miki T, Yamamoto T, Takeshita T: Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow‑up of Children, and Embryo Ranking. Reprod Sci 30: 974-83, 2023.

2022年

Tsuchiya Y, Kobayashi H, Kanno H, Yamamoto T: Beta-tricalcium phosphate as a possible adjuvant in γδ Tcell-based immune therapy for human disorders. Tokyo Women’s Medical University Journal 6: 101-7, 2022.

Inoue Y, Machida O, Kita Y, Yamamoto T: Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants. Intractable & Rare Diseases Research 11: 120-4, 2022.

Machida O, Yamamoto Shimojima K, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T: Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review. Intractable & Rare Diseases Research 11: 143-8, 2022.

Muramatsu M, Shimojima Yamamoto K, Pin Fee Chong P-F, Ryutaro Kira R, Nobuhiko Okamoto N, Yamamoto T: Genotype-phenotype correlation in six patients with interstitial deletions spanning 13q31. No To Hattatsu 54: 317-22, 2022.

Yamamoto N, Okazaki S, Kuki I, Yamada N, Nagase S, Nukui M, Inoue T, Kawakita R, Yorifuji T, Hoshina T, Seto T, Yamamoto T, Kawawaki H: Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature. Epileptic Disorders 24: 567-71, 2022.

Ludwig L, Lareau C, EBao E, Liu N, Utsugisawa T, Tseng A, Myers S, Verboon J, Ulirsch J, Luo W, Muus C, Fiorini C, Olive M, Vockley C, Munschauer M, Hunter A, Ogura H, Yamamoto T, Inada H, Nakagawa S, Ohzono S, Subramanian V, Chiarle R, Glader B, Carr S, Aryee M, Kundaje A, Orkin S, Regev A, McCavit T, Kanno H, Sankaran V: Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1. Blood 139: 2534-46, 2022.

Eto K, Machida O, Yanagishita T, Yamamoto Shimojima K, Chiba K, Aihara Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T: Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis. Hum Genome Var 9: 43, 2022.

Kaneko S, Shimbo A, Irabu H, Yamamoto T, Shimizu M: Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus. Pediatr Int e15396, 2022.

杉原進, 竹内千仙, 沼部博直, 山本俊至, 今井祐之: 日光過敏症から骨髄性プロトポルフィリン症と診断されたモザイク型 18q21.2-q22.1 欠失の 1 例. 脳と発達 54: 352-5, 2022.

Okuda T, Moroto M, Yamamoto T: Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period. J Obster Gynecol Res 48: 2214-8, 2022.

Aso K, Soutome T, Satoh M, Aoki T, Ogura H, Yamamoto T, Kanno H, Takahashi H: Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia

山本俊至: ゲノム医療. 小児科 63 (増刊号): 1499-1505, 2022.

山本俊至: 出生前診断・着床前診断の現状と課題. 日本小児科学会雑誌 126:1459-64, 2022.