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研究業績詳細

鈴木敏史（スズキトシフミ）

研究テーマ	Human genetics, congenital anomalies
研究業績（論文）	【総説 & Book】・遺伝性疾患の原因究明における次世代シークエンスの有用性鈴木敏史　鶴崎美徳　松本直通遺伝子医学MOOK 28号　メディカル　ドゥ社・WDR45変異がひき起こす鉄沈着性神経変性疾患SENDA 鈴木敏史　松本直通内分泌・糖尿病・代謝内科　特集　糖尿病とオートファジー　(科学評論社、2015年6月28日発行) ・疾患ゲノム解析鈴木敏史　松本直通（産科と婦人科、産科領域における遺伝診療の最前線、84巻1号、 55-62ページ、2017年1月）・特集：腎臓医が知っておきたい分子遺伝学の進歩【疾患編】5. ネフロン癆鈴木敏史、三宅紀子 (腎と透析、第82巻3号、2017年3月号) ・CG動画でわかる! 肩甲難産・骨盤位への対応肩関節の動きからみた肩甲・上肢解出法メジカルビュー社 2019年・分娩の生理病態に基づいた頸管熟化と分娩誘発法ミニメトロ使用例メジカルビュー社　2022年【論文(日本語、すべて査読あり)】 1. 子宮腺筋症に対してレボノルゲストレル除放型IUS(LNG-IUS)を使用した7症例の検討 (原著論文) 河野　彩子, 山本　勉, 小堀　宏之, 西岡　暢子, 糸賀　知子, 永井　富裕子, 島貫　洋太, 平井　千裕, 鈴木　敏史日本産科婦人科学会関東連合地方部会会誌, 47(3) 305-305, 2010 2.羊水過多を契機に診断された母体筋緊張性ジストロフィーの一例(遺伝カウンセリングを含めた検討) (症例報告) 鈴木敏史(越谷市立病院産婦人科), 西岡暢子, 平井千裕, 島貫洋太, 李翼, 菅野啓一日本周産期・新生児医学会雑誌 (1348-964X)49巻4号 Page1302-1307(2013.12) 3. CSPP1変異によるJoubert syndrome：本邦第1例目野崎章仁，岡本伸彦，鈴木敏史，鶴崎美徳，三宅紀子，松本直通，熊田知浩，柴田　実，藤井達哉脳と発達　49 巻 (2017) 6 号 p. 427-428 4. 産褥期に急激な心不全の経過を辿った心筋症の1例 (症例報告) 羽根田澄枝, 鈴木敏史, 酒寄詩織, 丸山洋二郎, 塚本博幸, 安東瞳, 篠原三津子, 李香蘭, 松村優子, 竹田純, 牧野真太郎, 板倉敦夫東京産科婦人科学会会誌 (2186-0599)67巻2号 Page325-330(2018.04) 5. 先天性異常フィブリノゲン血症合併妊娠の双胎管理の1例 (症例報告) 酒寄詩織, 鈴木敏史, 李香蘭, 高山彩, 青井裕美, 松村優子, 竹田純, 丸山洋二郎, 牧野真太郎, 北出真理, 板倉敦夫東京産科婦人科学会会誌 (2186-0599)67巻2号 Page321-324(2018.04) 6. 産科危機的出血を契機に発症した非典型溶血性尿毒症症候群(a-HUS)の1例 (症例報告) 菅井里穂, 丸山洋二郎, 小熊響子, 瀬山理惠, 保田歩, 篠原三津子, 李香蘭, 竹田純, 鈴木敏史, 牧野真太郎, 竹田省, 板倉敦夫東京産科婦人科学会会誌 (2186-0599)68巻1号 Page98-102(2019.01) 【論文(英文、すべて査読あり)】 1. De novo SOX11 mutations cause Coffin-Siris syndrome. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N. Nat Commun. 2014 Jun 2;5:4011. (GeneReviews® Coffin-Siris syndromeにcitationされました. OMIMに引用されました。) 2. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Satoru Takeda and Naomichi Matsumoto J Hum Genet. 2014 Dec;59(12):649-54. Nature Reviews Genetics (Wright, C. et al.volume 19, pages253–268, 2018)にcitationされました 3. TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto & Kunimasa Yan CEN Case Rep (2016) 5: 137. doi:10.1007/s13730-015-0210-1 4. Molecular genetic analysis of 30 families with Joubert syndrome. Toshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Nobuhiko Okamoto, Adila Alkindy, Aya Inaba, Mai Sato, Shuichi Ito, Kazuhiro Muramatsu, Shigemi Kimura, Daisuke Ieda, Shinji Saitoh, Masato Hiyane, Hiroshi Suzumura, Kazuyori Yagyu, Hideaki Shiraishi, Midori Nakajima, Noboru Fueki, Yumi Habata, Yuki Ueda, Yumiko Komatsu, Kunimasa Yan, Konomi Shimoda, Yoshihiko Shitara, Seiji Mizuno, Kenji Ichinomiya, Kiyoko Sameshima, Yu Tsuyusaki, Kenji Kurosawa, Yasunari Sakai, Kazuhiro Haginoya, Yasuko Kobayashi, Chikage Yoshizawa, Masataka Hisano, Mitsuko Nakashima, Hirotomo Saitsu, Satoru Takeda, Naomichi Matsumoto Clinical genetics. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. (GeneReviews® Joubert syndromeにcitationされました. ジュベール症候群関連疾患診療ガイドライン2018にcitationされました) 5. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Narutod, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, NaomichiMatsumoto Journal of the Neurological Sciences. (2017 May 15;376:7-12.) 6. A homozygous NOP14 variant is likely to cause recurrent pregnancy loss Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, and Noriko Miyake Journal of Human Genetics volume 63, pages425–430 (2018) doi:10.1038/s10038-018-0410-6 7. Integrative analyses of de novo mutations provide deeper biological insights in autism spectrum disorder Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto January 2018 Cell Reports 22(3):734-747 8. Multiple Placental Infarcts in a Pregnant Woman with Essential Thrombocythemia: A Case Report Yoko Edahiro, Jun Ando, Toshifumi Suzuki, Yuki Fukumura, Azuchi Masuda, Shiori Sakayori, Jun Takeda, Yojiro Maruyama, Shintaro Makino, Atsuo Itakura, Norio Komatsu August10,2018;doi:dx.doi.org/10.2169/internalmedicine.1311-18 9. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Hiromi Aoi, Takeshi Mizuguchi, Jose Ricardo Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel S Honjo, Iwaki Takuma, Toshifumi Suzuki, Futoshi Sekiguchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Debora R Bertola, Chong Ae Kim, Naomichi Matsumoto Journal of human genetics (2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z.) 10. Genetic abnormalities in a large cohort of Coffin-Siris Syndrome patients Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M. White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A. Clarke, Rani Sachdev, George McGillivray, Richard J. Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J. Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M. H. Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake & Naomichi Matsumoto (DOI:https://doi.org/10.1038/s10038-019-0667-4 Journal of human genetics, volume 64, pages1173–1186, 2019) Nature Geneticsにcitationされました (Valencia, A.M., Sankar, A., van der Sluijs, P.J. et al. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders. Nat Genet, 2023) 11. Hereditary angioedema with deep vein thrombosis and pulmonary thromboembolism during pregnancy Kyoko Oguma, Toshifumi Suzuki, Satoshi Mano, Shiori Takeuchi, Jun Takeda, Yojiro Maruyama, Shintaro Makino, Yusuke Suzuki, Atsuo Itakura : corresponding author Taiwanese Journal of Obstetrics & Gynecology (Volume 58, Issue 6, November 2019, Pages 895-896) 12. Fetal umbilical cord cyst may evolve to omphalocele during pregnancy Toshifumi Suzuki, Yuka Yamamoto, Hiroki Nakamura, Kiguna Sei-Okawa, Yojiro Maruyama, Jun Takeda, Shintaro Makino, Atsuyuki Yamataka, Atsuo Itakura (J Clin Ultrasound. 2020;48:181–183.) 13. Prenatal diagnosis of Jacobsen syndrome with cystic hygroma Toshifumi Suzuki, Takashi Hayashi, Atsuo Itakura : corresponding author (Indian Journal of Child Health, 2020; January 16) 14. Laparoscopic removal of modified vertical uterine compression sutures due to postoperative focal pain Toshifumi Suzuki, Jun Takeda, Makoto Jinushi, Rie Seyama, Yojiro Maruyama, Shintaro Makino, Mari Kitade, and Atsuo Itakura (The Surgery Journal, 2020 Mar 31;6(2):e67-e70. doi: 10.1055/s-0040-1708865.) 15. Retrospective study of the recurrence risk of preterm birth in Japan Rie Seyama, Shintaro Makino, Shuko Nojiri, Jun Takeda, Toshifumi Suzuki, Yojiro Maruyama, Satoru Takeda, Atsuo Itakura (The Journal of Maternal-Fetal & Neonatal Medicine, Published online: 18 Feb 2020) 16. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders Toshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, Noriko Miyake, Genki Sudo, Yoshinori Tsurusaki, Takaki Watanabe, Yuki Sugaya, Tetsuya Tatsukawa, Emi Mazaki, Atsushi Shimohata, Itaru Kushima, Branko Aleksic, Tomoko Shiino, Tomoko Toyota, Yoshimi Iwayama, Kentaro Nakaoka, Iori Ohmori, Aya Sasaki, Ken Watanabe, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Takeo Yoshikawa, Norio Ozaki, Masanobu Kano, Takeyoshi Shimoji, Naomichi Matsumoto, Kazuhiro Yamakawa (: co-first authors, Annals of Clinical and Translational Neurology, 12 June 2020, https://doi.org/10.1002/acn3.51093) OMIMに引用されました。（https://www.omim.org/entry/300420?search=PJA1&highlight=pja1） Scienceに引用されました（Relating enhancer genetic variation across mammals to complex phenotypes using machine learning, Science. 2023 Apr 28;380(6643):eabm7993. doi:10.1126/science.abm7993. Epub 2023 Apr 28.） 17. Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers Anna Sato, Toshifumi Suzuki, Mitsuru Ikeno, Jun Takeda, Yuka Yamamoto, Mitsuko Shinohara, Shintaro Makino, Satoru Takeda, Toshiaki Shimizu, and Atsuo Itakura (: corresponding author, European Journal of Medical Genetics, 2020 Oct;63(10):104005. doi: 10.1016/j.ejmg.2020.104005.) 18. Nonsense variants in STAG2 result in distinct congenital anomalies Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi, Atsuo Itakura, Satoru Takeda, Naomichi Matsumoto (Human Genome Variation volume 7, Article number: 26 (2020)) 19. Interferon therapy for pregnant patients with essential thrombocythemia in Japan Yoko Edahiro, Hajime Yasuda, Akihiko Gotoh, Soji Morishita, Toshifumi Suzuki, Jun Takeda, Jun Ando, Miyuki Tsutsui, Atsuo Itakura, Norio Komatsu (International journal of hematology, 2020, https://doi.org/10.1007/s12185-020-03001-w) (Alberto Alvarez-Larrán et al. The Lancet Haematologyにcitation) 20. Efficient detection of copy-number variations using exome data: batch- and sex-based analyses Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Lei Ming, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo, Debora Rmeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock-Hock Ngu, Ch'ng Gaik Siew, Keng Wee Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Toru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto (Human Mutation, 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11.) 21. Whole exome sequencing of fetal structural anomalies detected by ultrasonography Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto (Journal of human genetics, 2021 May;66(5):499-507. doi: 10.1038/s10038-020-00869-8. Epub 2020 Nov 3.PMID: 33144663) 22. Cervical cerclage to prevent intrauterine balloon prolapse Toshifumi Suzuki, Jun Takeda, Rie Seyama, Shintaro Makino, Satoru Takeda, and Atsuo Itakura (The Surgery Journal, Surg J (N Y) 2023; 09(01): e36-e38 DOI: 10.1055/s-0042-1749427) 23. Two cases of low-risk adnexal torsion in the third trimester of pregnancy Toshifumi Suzuki, Hiromi Doi, Naotaka Yamaguchi, Takashi Hayashi (: corresponding author, Hypertension Research in Pregnancy, 2022 Volume 10 Issue 4 Pages 125-128) 24. Distal 2q duplication in a patient with intellectual disability Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, and Naomichi Matsumoto (Human Genome Variation, September, 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8.) 25. A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu, Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori, Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, and Naomichi Matsumoto (Scientific Reports 13, 9789 (2023). https://doi.org/10.1038/s41598-023-36381-0) 26. 27.

研究テーマ

Human genetics, congenital anomalies

研究業績（論文）

【総説 & Book】
・遺伝性疾患の原因究明における次世代シークエンスの有用性
鈴木敏史　鶴崎美徳　松本直通
遺伝子医学MOOK 28号　メディカル　ドゥ社

・WDR45変異がひき起こす鉄沈着性神経変性疾患SENDA
鈴木敏史　松本直通
内分泌・糖尿病・代謝内科　特集　糖尿病とオートファジー　(科学評論社、2015年6月28日発行)

・疾患ゲノム解析
鈴木敏史　松本直通
（産科と婦人科、産科領域における遺伝診療の最前線、84巻1号、 55-62ページ、2017年1月）

・特集：腎臓医が知っておきたい分子遺伝学の進歩
【疾患編】5. ネフロン癆
鈴木敏史、三宅紀子
(腎と透析、第82巻3号、2017年3月号)

・CG動画でわかる!
肩甲難産・骨盤位への対応
肩関節の動きからみた肩甲・上肢解出法
メジカルビュー社 2019年

・分娩の生理病態に基づいた
頸管熟化と分娩誘発法
ミニメトロ使用例
メジカルビュー社　2022年

【論文(日本語、すべて査読あり)】

1. 子宮腺筋症に対してレボノルゲストレル除放型IUS(LNG-IUS)を使用した7症例の検討 (原著論文)
河野　彩子, 山本　勉, 小堀　宏之, 西岡　暢子, 糸賀　知子, 永井　富裕子, 島貫　洋太, 平井　千裕, 鈴木　敏史
日本産科婦人科学会関東連合地方部会会誌, 47(3) 305-305, 2010

2.羊水過多を契機に診断された母体筋緊張性ジストロフィーの一例(遺伝カウンセリングを含めた検討) (症例報告)
鈴木敏史(越谷市立病院産婦人科), 西岡暢子, 平井千裕, 島貫洋太, 李翼, 菅野啓一
日本周産期・新生児医学会雑誌 (1348-964X)49巻4号 Page1302-1307(2013.12)

3. CSPP1変異によるJoubert syndrome：本邦第1例目
野崎章仁，岡本伸彦，鈴木敏史，鶴崎美徳，三宅紀子，松本直通，熊田知浩，柴田　実，藤井達哉脳と発達　49 巻 (2017) 6 号 p. 427-428

4. 産褥期に急激な心不全の経過を辿った心筋症の1例 (症例報告)
羽根田澄枝, 鈴木敏史, 酒寄詩織, 丸山洋二郎, 塚本博幸, 安東瞳, 篠原三津子, 李香蘭, 松村優子, 竹田純, 牧野真太郎, 板倉敦夫
東京産科婦人科学会会誌 (2186-0599)67巻2号 Page325-330(2018.04)

5. 先天性異常フィブリノゲン血症合併妊娠の双胎管理の1例 (症例報告)
酒寄詩織, 鈴木敏史, 李香蘭, 高山彩, 青井裕美, 松村優子, 竹田純, 丸山洋二郎, 牧野真太郎, 北出真理, 板倉敦夫
東京産科婦人科学会会誌 (2186-0599)67巻2号 Page321-324(2018.04)

6. 産科危機的出血を契機に発症した非典型溶血性尿毒症症候群(a-HUS)の1例 (症例報告)
菅井里穂, 丸山洋二郎, 小熊響子, 瀬山理惠, 保田歩, 篠原三津子, 李香蘭, 竹田純, 鈴木敏史, 牧野真太郎, 竹田省, 板倉敦夫
東京産科婦人科学会会誌 (2186-0599)68巻1号 Page98-102(2019.01)

【論文(英文、すべて査読あり)】

1. De novo SOX11 mutations cause Coffin-Siris syndrome.
Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N.
Nat Commun. 2014 Jun 2;5:4011.
(GeneReviews® Coffin-Siris syndromeにcitationされました. OMIMに引用されました。)

2. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.
Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Satoru Takeda and Naomichi Matsumoto
J Hum Genet. 2014 Dec;59(12):649-54.
Nature Reviews Genetics (Wright, C. et al.volume 19, pages253–268, 2018)にcitationされました

3. TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto & Kunimasa Yan
CEN Case Rep (2016) 5: 137. doi:10.1007/s13730-015-0210-1

4. Molecular genetic analysis of 30 families with Joubert syndrome.
Toshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Nobuhiko Okamoto, Adila Alkindy, Aya Inaba, Mai Sato, Shuichi Ito, Kazuhiro Muramatsu, Shigemi Kimura, Daisuke Ieda, Shinji Saitoh, Masato Hiyane, Hiroshi Suzumura, Kazuyori Yagyu, Hideaki Shiraishi, Midori Nakajima, Noboru Fueki, Yumi Habata, Yuki Ueda, Yumiko Komatsu, Kunimasa Yan, Konomi Shimoda, Yoshihiko Shitara, Seiji Mizuno, Kenji Ichinomiya, Kiyoko Sameshima, Yu Tsuyusaki, Kenji Kurosawa, Yasunari Sakai, Kazuhiro Haginoya, Yasuko Kobayashi, Chikage Yoshizawa, Masataka Hisano, Mitsuko Nakashima, Hirotomo Saitsu, Satoru Takeda, Naomichi Matsumoto
Clinical genetics. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836.
(GeneReviews® Joubert syndromeにcitationされました. ジュベール症候群関連疾患診療ガイドライン2018にcitationされました)

5. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Narutod, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, NaomichiMatsumoto
Journal of the Neurological Sciences. (2017 May 15;376:7-12.)

6. A homozygous NOP14 variant is likely to cause recurrent pregnancy loss
Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, and Noriko Miyake
Journal of Human Genetics
volume 63, pages425–430 (2018) doi:10.1038/s10038-018-0410-6

7. Integrative analyses of de novo mutations provide deeper biological insights in autism spectrum disorder
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
January 2018 Cell Reports 22(3):734-747

8. Multiple Placental Infarcts in a Pregnant Woman with Essential Thrombocythemia: A Case Report
Yoko Edahiro, Jun Ando, Toshifumi Suzuki, Yuki Fukumura, Azuchi Masuda, Shiori Sakayori, Jun Takeda, Yojiro Maruyama, Shintaro Makino, Atsuo Itakura, Norio Komatsu
August10,2018;doi:dx.doi.org/10.2169/internalmedicine.1311-18

9. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Hiromi Aoi, Takeshi Mizuguchi, Jose Ricardo Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel S Honjo, Iwaki Takuma, Toshifumi Suzuki, Futoshi Sekiguchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Debora R Bertola, Chong Ae Kim, Naomichi Matsumoto
Journal of human genetics (2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z.)

10. Genetic abnormalities in a large cohort of Coffin-Siris Syndrome patients
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M. White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A. Clarke, Rani Sachdev, George McGillivray, Richard J. Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J. Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M. H. Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake & Naomichi Matsumoto
(DOI:https://doi.org/10.1038/s10038-019-0667-4 Journal of human genetics, volume 64, pages1173–1186, 2019)
Nature Geneticsにcitationされました
(Valencia, A.M., Sankar, A., van der Sluijs, P.J. et al. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders. Nat Genet, 2023)

11. Hereditary angioedema with deep vein thrombosis and pulmonary thromboembolism during pregnancy
Kyoko Oguma, Toshifumi Suzuki*, Satoshi Mano, Shiori Takeuchi, Jun Takeda, Yojiro Maruyama, Shintaro Makino, Yusuke Suzuki, Atsuo Itakura
*: corresponding author
Taiwanese Journal of Obstetrics & Gynecology (Volume 58, Issue 6, November 2019, Pages 895-896)

12. Fetal umbilical cord cyst may evolve to omphalocele during pregnancy
Toshifumi Suzuki, Yuka Yamamoto, Hiroki Nakamura, Kiguna Sei-Okawa, Yojiro Maruyama, Jun Takeda, Shintaro Makino, Atsuyuki Yamataka, Atsuo Itakura
(J Clin Ultrasound. 2020;48:181–183.)

13. Prenatal diagnosis of Jacobsen syndrome with cystic hygroma
Toshifumi Suzuki*, Takashi Hayashi, Atsuo Itakura
*: corresponding author
(Indian Journal of Child Health, 2020; January 16)

14. Laparoscopic removal of modified vertical uterine compression sutures due to postoperative focal pain
Toshifumi Suzuki, Jun Takeda, Makoto Jinushi, Rie Seyama, Yojiro Maruyama, Shintaro Makino, Mari Kitade, and Atsuo Itakura
(The Surgery Journal, 2020 Mar 31;6(2):e67-e70. doi: 10.1055/s-0040-1708865.)

15. Retrospective study of the recurrence risk of preterm birth in Japan
Rie Seyama, Shintaro Makino, Shuko Nojiri, Jun Takeda, Toshifumi Suzuki, Yojiro Maruyama, Satoru Takeda, Atsuo Itakura
(The Journal of Maternal-Fetal & Neonatal Medicine, Published online: 18 Feb 2020)

16. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
Toshimitsu Suzuki*, Toshifumi Suzuki*, Matthieu Raveau*, Noriko Miyake*, Genki Sudo*, Yoshinori Tsurusaki, Takaki Watanabe, Yuki Sugaya, Tetsuya Tatsukawa, Emi Mazaki, Atsushi Shimohata, Itaru Kushima, Branko Aleksic, Tomoko Shiino, Tomoko Toyota, Yoshimi Iwayama, Kentaro Nakaoka, Iori Ohmori, Aya Sasaki, Ken Watanabe, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Takeo Yoshikawa, Norio Ozaki, Masanobu Kano, Takeyoshi Shimoji, Naomichi Matsumoto, Kazuhiro Yamakawa
(*: co-first authors, Annals of Clinical and Translational Neurology, 12 June 2020, https://doi.org/10.1002/acn3.51093)
OMIMに引用されました。（https://www.omim.org/entry/300420?search=PJA1&highlight=pja1）
Scienceに引用されました（Relating enhancer genetic variation across mammals to complex phenotypes using machine learning, Science. 2023 Apr 28;380(6643):eabm7993. doi:10.1126/science.abm7993. Epub 2023 Apr 28.）

17. Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers
Anna Sato, Toshifumi Suzuki*, Mitsuru Ikeno, Jun Takeda, Yuka Yamamoto, Mitsuko Shinohara, Shintaro Makino, Satoru Takeda, Toshiaki Shimizu, and Atsuo Itakura
(*: corresponding author, European Journal of Medical Genetics, 2020 Oct;63(10):104005. doi: 10.1016/j.ejmg.2020.104005.)

18. Nonsense variants in STAG2 result in distinct congenital anomalies
Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi, Atsuo Itakura, Satoru Takeda, Naomichi Matsumoto
(Human Genome Variation volume 7, Article number: 26 (2020))

19. Interferon therapy for pregnant patients with essential thrombocythemia in Japan
Yoko Edahiro, Hajime Yasuda, Akihiko Gotoh, Soji Morishita, Toshifumi Suzuki, Jun Takeda, Jun Ando, Miyuki Tsutsui, Atsuo Itakura, Norio Komatsu
(International journal of hematology, 2020, https://doi.org/10.1007/s12185-020-03001-w)
(Alberto Alvarez-Larrán et al. The Lancet Haematologyにcitation)

20. Efficient detection of copy-number variations using exome data: batch- and sex-based analyses
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Lei Ming, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo, Debora Rmeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock-Hock Ngu, Ch'ng Gaik Siew, Keng Wee Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Toru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
(Human Mutation, 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11.)

21. Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto
(Journal of human genetics, 2021 May;66(5):499-507. doi: 10.1038/s10038-020-00869-8. Epub 2020 Nov 3.PMID: 33144663)

22. Cervical cerclage to prevent intrauterine balloon prolapse
Toshifumi Suzuki, Jun Takeda, Rie Seyama, Shintaro Makino, Satoru Takeda, and Atsuo Itakura
(The Surgery Journal, Surg J (N Y) 2023; 09(01): e36-e38
DOI: 10.1055/s-0042-1749427)

23. Two cases of low-risk adnexal torsion in the third trimester of pregnancy
Toshifumi Suzuki*, Hiromi Doi, Naotaka Yamaguchi, Takashi Hayashi
(*: corresponding author, Hypertension Research in Pregnancy, 2022 Volume 10 Issue 4 Pages 125-128)

24. Distal 2q duplication in a patient with intellectual disability
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, and Naomichi Matsumoto
(Human Genome Variation, September, 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8.)

25. A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu, Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori, Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, and Naomichi Matsumoto
(Scientific Reports 13, 9789 (2023). https://doi.org/10.1038/s41598-023-36381-0)

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