Academic yr: <<< Previous 2023 2024 2025
 ゲノム診療科
Summary Research grants & projects Published papers
Books Academic conference presentation


Professor：

    YAMAMOTO Toshiyuki
   MIYAKE Hidehiko 		Assistant Professor：
    ARAKAWA Reiko
   OOTOMO Mari
   KATOU Tamaki
■ Summary
To the top
■ Research grants & projects
1.  
 Budget amount：\4,000,000  (分担)
2.  
 Budget amount：\300,000  (分担)
3.    (Grant No.：24K10940)
 Budget amount：\1,400,000  (代表)
4.  
 Budget amount：\100,000  (分担)
5.  
 Budget amount：\100,000  (分担)
Display all(8)
To the top
■ Research works
Journal Book Presentation Other presentations
JapaneseEnglish JapaneseEnglish Domesticinternational
First authorCorresponding
Author		Co-authorFirst authorCorresponding
Author		Co-author First authorCo-authorFirst authorCo-author PresenterCo-presenterPresenterCo-presenter PresenterCo-presenter
 4 4 3 3 1 3  0 3 0 0  1 22  0 1  0 0
To the top
■ 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 Link
2. Akaba Y, Takahashi S, Adachi S, Nishimura M, Suzuki K, Nakashima H, Nakashima K, Kira R, Chong P-F, Sakai Y, Hayashi Y, Kushima I, Mori D, Arioka Y, Okumura H, Nakayama A, Mizuno S, Yamamoto T, Osakada F, Ozaki N, Tsujimura K：  miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.  iScience  28 (11) ：113789 , 2025.10   DOI:doi: 10.1016/j.isci.2025.113789 Link
3. Kato Tamaki, Otsuki Noriko, Yokomura Mamoru, Shima Naoko, Kajima Kota, Shioya Moeka, Suzuki Hayato, Wakabayashi Hidetaka, Saito Kayoko：  Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment.  Brain and Development  47 (5) ：104410 , 2025.10   DOI:https://doi.org/10.1016/j.braindev.2025.104410
4. Hamanaka K, Fujita A, Miyatake S, Misawa K, Koshimizu E,Uchiyama Y, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama T, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi J-I, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, Matsumoto N.：  Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.  npj Genomic Medicine  10 ：60 , 2025.8   DOI:10.1038/s41525-025-00521-4 Link
5. Kato Tamaki, Ogura Yumi, Kamae Chikako, Yeh Tzu-Wen, Okano Tsubasa, Take Junya, Mitsui-Sekinaka Kanako, Moriya Kunihiko, Reichenbach Janine, Vignesh Pandiarajan, Rawat Amit, Surit Singh, Takagi Masatoshi, Kanegane Hirokazu, Morio Tomohiro, Ohara Osamu, Kohsuke Imai, Nonoyama Shigeaki：  Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.  Pediatrics International  67 (1) ：e70085 , 2025.6   DOI:https://doi.org/10.1111/ped.70085
Review article
1. 山本俊至†：  1p36欠失症候群.  新薬と臨床  75 (1) ：7-10 , 2026.1
2. 山本俊至†：  着床前遺伝学的検査：PGT-Mの対象疾患に関する議論のポイント・日本小児科学会.  周産期医学  in press ：in press , 2026.1
3. †山本俊至*：  DECIPHER ―ヒトゲノムのvariationと表現型の関連を確認するために使われるデータベース.  実験医学  43 (20増刊号) ：3204-3209 , 2025.12
4. 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
5. 山本俊至†：  マイクロアレイ染色体検査（アレイCGH）.  小児内科  in press ：in press , 2025.11
Display all(8)
Other
1. Kato Tamaki, Yokomura Mamoru, Saito kayoko, Otsuki Noriko：  Reply to “Comment on ‘Survival motor neuron protein is the optimal
biomarker for evaluating the risdiplam treatment.  Brain and Development  48 (1) ：104489-104493 , 2025.12   DOI:https://doi.org/10.1016/j.braindev.2025.104493
To the top
■ Books
1. 荒川玲子、山本俊至：  脊髄性筋萎縮症(SMA).  周産期遺伝カウンセリングマニュアル  159-161.  中外医学社,  東京, 2025.7
2. 山本俊至, 黒田知子, 加藤恵一：  PGT-SR.  産婦人科ゲノム医療の必須知識-図表でわかる基本・検査・治療-  22-27.  診断と治療社,  東京, 2025.5
3. 山本俊至：  1p36欠失症候群.  今日の小児科治療指針　第18版  in press.  医学書院,  東京, 2025.4
To the top
■ Academic conference presentation
1. ShibatabY, Yamada T, Shirato N, Sekizawa A, Sasaki A, Hata K, Masuzawa Y, Yamamoto T, Yoshihashi H, Koike Fukushima K, Masuzaki H, Kosaki K, Tanaka S, Yamada S, Nishigaki M, Miyake H.： A nation-wide survey on attitudes of obstetricians toward comprehensive prenatal genetic testing in Japan.  2025 Annual Meeting for American Society of Human Genetics,  Boston, USA,  2025/10
2. 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
3. ◎Aoki Y, Shirai H, Shimojima K, Satou T, Ishijaki K, Yamamoto T： HyperCKemia caused by a loss-of-function variant in DAG1.  日本人類遺伝学会第70回大会,  横浜,  2025/12
4. ◎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
5. ◎UEDA Megumi, YANAGISHITA Tomoe, SHIMOMURA Rina, ISHIGAKI Keiko, NAGATA Satoru, ASANO Yoshihiro, YAMAMOTO Toshiyuki： De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay.  日本人類遺伝学会第70回大会,  Yokohama,  2025/12
Display all(24)
To the top
  ＊：Corresponding Author
 †：First Author
◎：Presenter