■ Published papers
|
Original article
|
|
1.
|
Shirai H, Shimojima Yamamoto K, Arai H, Sawaishi Y, Fujita S, Kuriyama Y, Miura M, Tohyama J, Yamamoto T*：
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.
Journal of Human Genetics
71
：73-79
, 2026.2
DOI:doi.org/10.1038/s10038-025-01408-z
|
|
2.
|
NEMOTO Yuki†, ENDO Takanori, SEGAWA Hogara, NAKAMURA Kazutaka, NISHIMURA Koichi, HORIUCHI Toshihide, TOKI Daisuke, KOBAYASHI Hirohito, TAKAGI Toshio, KONDO Tsunenori*：
Efficacy and safety of nivolumab plus cabozantinib in octogenarian patients with advanced renal cell carcinoma.
International urology and nephrology
57
(10)
：3191-3198
, 2025.10
DOI:10.1007/s11255-025-04486-2
|
|
Review article
|
|
1.
|
Shirai H, Oitani Y, Nishi E, Haraguchi K, Nakamura T, Ichise F, Sanefuji M, Hattori A, Yanagi K, Shimojima Yamamoto K, Okamoto N, Matsuo M, Saitoh S, Yoshiura K-I, Kaname T, Yamamoto T：
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.
Brain & Development
in press
：in press
, 2026.2
DOI:https://doi.org/10.1016/j.braindev.2026.104509
|
|
2.
|
山本俊至, 下島圭子：
遺伝学的検査１：染色体G-band検査・FISH法・マイクロアレイ染色体検査・メチル化検査.
小児内科
in press
：in press
, 2025.12
|
|
3.
|
Shimomura R*, Kihara Y, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishihara Y, Nasgata M, Miyashita Y, Asano Y, Ishigaki K, Nagata S, Yamamoto T：
Challenges in genetic counseling for RYR1-related myopathies.
Brain & Development
47
(3)
：104363
, 2025.6
DOI:DOI: 10.1016/j.braindev.2025.104363
|
|
To the top
|
|
■ Academic conference presentation
|
1.
|
Shirai H, Aoki Y, Shimomura R, Yanagishita T, Ishigaki K, Shimojima K, Hoshino K, Yamamoto T：
Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome.
日本人類遺伝学会第70回大会,
横浜,
2025/12
|
|
2.
|
◎SHIMOMURA Rina, KIHARA Yuuki, ISHIGURO Kumiko, SHICHIJI Minobu, SATOU Takatoshi, SHIMOJIMA YAMAMOTO Keiko, ISHIGAKI Keiko, NAGATA Satoru, YAMAMOTO Toshiyuki：
A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom.
日本人類遺伝学会第70回大会,
Yokohama,
2025/12
|
|
3.
|
◎Sangu N, Aoki Y, Shimojima K, Yamamoto T：
Gene expression analysis in MLC1-null cell-lines created by genome editing.
日本人類遺伝学会第70回大会,
横浜,
2025/12
|
|
4.
|
Nakamura A, Shirai K, Takanashi K, Shirai H, Shimojima K, Takanashi J-I, Yamamoto T：
A Case of a Patient with TUBB4A Variant Presenting with Isolated Cerebellar Atrophy without Hypomyelination.
日本人類遺伝学会第70回大会,
横浜,
2025/12
|
|
5.
|
◎Shimojima K, Tamura T, Nagano N, Morioka I, Yamamoto T：
Growth failure and neurodevelopmental delay caused by loss-of-function mutations in ACTB.
日本人類遺伝学会第70回大会,
横浜,
2025/12
|
|
6.
|
遠山 潤、三浦雅樹、藤田沙緒里、栗山洋子、小林 悠、放上萌美、山田 慧、藤井仁美、白井宏直、下島圭子、山本俊至：
1p36欠失症候群家系内発症例の遺伝カウンセリングの経験.
第４９回日本遺伝カウンセリング学会学術集会,
札幌,
2025/08
|
|
7.
|
◎下村里奈, 蒋池勇太, 山本圭子, 白井陽子, 石垣景子, 三浦健一郎, 永田 智, 山本俊至：
皮質下嚢胞をもつ大頭型白質脳症（MIC）のバイオマーカーとしての血清NfL解析.
第67回日本小児神経学会学術集会,
米子,
2025/06
|
|
8.
|
◎下島圭子, 三宮直子, 下村里奈, 山本俊至：
ゲノム編集技術を用いた皮質下のう胞をもつ大頭型白質脳症(MLC)の発症メカニズムの解明.
第67回日本小児神経学会学術集会,
米子,
2025/06
|
|
Display 5 items
|
|
Display all(8)
|
|
To the top
|
|
