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Naomichi Matsumoto

Naomichi Matsumoto

Researcher at Yokohama City University

Publications - 807

Citations - 31854

Naomichi Matsumoto is an academic researcher from Yokohama City University. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 70, co-authored 713 publications receiving 26843 citations. Previous affiliations of Naomichi Matsumoto include Nagasaki University & Boston Children's Hospital.

Papers

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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

- 21 Jan 2016 -

Autophagy

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TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

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Journal ArticleDOI

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah B. Ng,Abigail W. Bigham,Kati J. Buckingham,Mark C. Hannibal,Mark C. Hannibal,Margaret J. McMillin,Heidi I. S. Gildersleeve,Anita E. Beck,Anita E. Beck,Holly K. Tabor,Holly K. Tabor,Gregory M. Cooper,Heather C Mefford,Choli Lee,Emily H. Turner,Joshua D. Smith,Mark J. Rieder,Koh-ichiro Yoshiura,Naomichi Matsumoto,Tohru Ohta,Norio Niikawa,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad,Jay Shendure +24 moreUniversity of Washington,Seattle Children's,Boston Children's Hospital,Nagasaki University,Yokohama City University,Health Sciences University of Hokkaido

- 01 Sep 2010 -

Nature Genetics

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TL;DR: The results strongly suggest that mutations in MLL2, which encodes a Trithorax-group histone methyltransferase, are a major cause of Kabuki syndrome.

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Journal ArticleDOI

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi,Gwenaëlle Collod-Béroud,Takushi Akiyama,Marianne Abifadel,Naoki Harada,Takayuki Morisaki,Delphine Allard,Mathilde Varret,Mireille Claustres,Hiroko Morisaki,Makoto Ihara,Akira Kinoshita,Koh-ichiro Yoshiura,Claudine Junien,Tadashi Kajii,Guillaume Jondeau,Tohru Ohta,Tohru Ohta,Tatsuya Kishino,Yoichi Furukawa,Yusuke Nakamura,Norio Niikawa,Catherine Boileau,Naomichi Matsumoto,Naomichi Matsumoto +24 moreNagasaki University,Necker-Enfants Malades Hospital,Osaka University,Health Sciences University of Hokkaido,University of Tokyo,Yokohama City University

- 04 Jul 2004 -

Nature Genetics

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TL;DR: Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.

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Journal ArticleDOI

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori,Yoko Aoki,Yoko Narumi,Giovanni Neri,Hélène Cavé,Alain Verloes,Nobuhiko Okamoto,Raoul C.M. Hennekam,Gabriele Gillessen-Kaesbach,Dagmar Wieczorek,Maria Ines Kavamura,Kenji Kurosawa,Hirofumi Ohashi,Louise C. Wilson,Delphine Héron,Dominique Bonneau,Giuseppina Corona,Tadashi Kaname,Kenji Naritomi,Clarisse Baumann,Naomichi Matsumoto,Kumi Kato,Shigeo Kure,Yoichi Matsubara +23 moreTohoku University,Catholic University of the Sacred Heart,UCL Institute of Child Health,Federal University of São Paulo,Great Ormond Street Hospital,University of the Ryukyus,Yokohama City University

- 12 Feb 2006 -

Nature Genetics

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TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.

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Journal ArticleDOI

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki,Kiyoshi Imaizumi,Naoki Harada,Mitsuo Masuno,Tatsuro Kondoh,Toshiro Nagai,Hirofumi Ohashi,Kenji Naritomi,Masato Tsukahara,Yoshio Makita,Tateo Sugimoto,Tohru Sonoda,Tomoko Hasegawa,Yasuaki Chinen,Hiroaki Tomita,Akira Kinoshita,Tsuyoshi Mizuguchi,Koh-ichiro Yoshiura,Tohru Ohta,Tatsuya Kishino,Yoshimitsu Fukushima,Norio Niikawa,Naomichi Matsumoto +22 moreNagasaki University,Dokkyo University,Yamaguchi University,Asahikawa Medical College,Kansai Medical University,Shinshu University

- 18 Mar 2002 -

Nature Genetics

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TL;DR: The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.

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