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Naomichi Matsumoto

yokohama city university

85H-index
1.4KPaper Count
3.9WCitation Count
Published Papers 290
Publication Date
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An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation
errScience Immunology
IF16.3
err2026-08-07
err0
PREAI
errMariko Aoki; Alberto Iannuzzo; Philippe Mertz; Shouya Feng; Naoya Iwata; Chiara Perugini; Naomi Tsuchida; Rana El Masri; Yoshihiko Kuchitsu; Rachida Tacine; Simona Coppola; Hirofumi Shibata; Margaux Cescato; Masahiko Nishitani-Isa; Alexandre Terré; Yuri Kawasaki; Sarah Dalmon; Kenichi Nishimura; Flora Magnotti; Satoko Miyatake; Marc André; Keisuke Hamada; Jonathan London; Kazushi Izawa; Akira Niwa; Nobuhiko Okamoto; Kazuhiro Ogata; Masashi Nishikawa; Erika Zara; Megumu K. Saito; Marco Tartaglia; Shuichi Ito; Mathieu P. Rodero; Koh-ichi Nagata; Asma Smahi; Naomichi Matsumoto; Laurent Le Corre; Junko Takita; Guilaine Boursier; Atsushi Hijikata; Thomas Henry; Tomohiko Taguchi; Véronique Hentgen; Sophie Georgin-Lavialle; Yoshitaka Honda; Seth L. Masters; Takahiro Yasumi; Jérôme Delon
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Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant
errJournal of Human Genetics
IF2.5
err2026-07-16
err0
PREAI
errAyumi Yoshimura; Yoshiteru Azuma; Keisuke Hamada; Mina Nakama; Yasunari Sakai; Kenta Kajiwara; Hiroshi Yamashita; Shimpei Baba; Eriko Koshimizu; Satoko Miyatake; Kazuhiro Ogata; Yoshinao Wada; Naomichi Matsumoto; Nobuhiko Okamoto
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Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations
errJournal of Human Genetics
IF2.5
err2026-07-01
err0
PREAI
errKatsuki Eguchi; Satoko Miyatake; Asako Takei; Hiroaki Yaguchi; Yuki Iida; Shinsuke Hamada; Yoshiko Ito; Sanae Honma; Fumio Moriwaka; Taishi Wada; Takashi Jono; Misako Kunii; Hiroyasu Komiya; Hitaru Kishida; Hiroshi Doi; Fumiaki Tanaka; Naomichi Matsumoto; Ichiro Yabe
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USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
errClinical Genetics
IF2.3
err2026-06-18
err0
errOAAI
errHelena Wigoda; Amjad Khan; Bryce A. Mendelsohn; Noriko Miyake; Nobuhiko Okamoto; Naomichi Matsumoto; Patricia J. C. Knijnenburg; Johanna M. van Hagen; Jiddeke van de Kamp; Quinten Waisfisz; Bryn D. Webb
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errSave
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
errAnnals of Clinical and Translational Neurology
IF3.9
err2026-02-05
err0
errOAAI
errTomoyasu Matsubara; Naoki Kihara; Satoko Miyatake; Koji Fujita; Konoka Tachibana; Ryosuke Miyamoto; Hiroki Yamazaki; Yusuke Osaki; Nazere Keyoumu; Yuki Kuwano; Nobutoshi Morimoto; Suzuran Saito; Eriko Koshimizu; Yoichi Otomi; Kenji Ishibashi; Masafumi Harada; Naomichi Matsumoto; Hiroyuki Morino; Yuishin Izumi
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errSave
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
errJournal of Human Genetics
IF2.5
err2025-12-17
err0
PREAI
errYukina Hayashi; Kenta Kajiwara; Seiji Mizuno; Nobuhiko Okamoto; Mei Yan Chan; Tomohide Goto; Seiichi Hayakawa; Mitsuhiro Kato; Chong Ae Kim; Dorit Lev; Lip Hen Moey; Juliet Taylor; Nerine Gregersen; Ifat Nezer-Kaner; Wee Teik Keng; Satoshi Okada; Hitoshi Osaka; Tally Sagie; Yasunari Sakai; Katsuya Tashiro; Patrick Yap; Li Fu; Kazuhiro Iwama; Qiaowei Liang; Naoto Nishimura; Suzuran Saito; Masamune Sakamoto; Yasuhiro Utsuno; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Fujita; Naomichi Matsumoto
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Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
errJournal of Human Genetics
IF2.5
err2025-11-13
err0
PREAI
errAtsuhiro Ozaki; Masamune Sakamoto; Satoko Kumada; Keisuke Hamada; Kazuhiro Ogata; Jun Ikezawa; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Atsushi Fujita; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
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Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
errJournal of Human Genetics
IF2.5
err2025-11-10
err0
PREAI
errYuta Inoue; Naomi Tsuchida; Chong Ae Kim; Bruno de Oliveira Stephan; Matheus Augusto Araujo Castro; Rachel Sayuri Honjo; Debora Romeo Bertola; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
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Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome
errJournal of Human Genetics
IF2.5
err2025-11-06
err0
PREAI
errQiaowei Liang; Yuri Uchiyama; Rie Seyama; Ichiro Kuki; Kazuhiro Haginoya; Toshiyuki Shinozaki; Mitsuhiro Kato; Masamune Sakamoto; Naomi Tsuchida; Eriko Koshimizu; Atsushi Fujita; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
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High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study
errMODERN RHEUMATOLOGY
IF1.9
err2025-11-01
err0
PREAI
errMaeda, Ayaka; Kirino, Yohei; Tsuchida, Naomi; Uchiyama, Yuri; Kobayashi, Daisuke; Asano, Tomoyuki; Ito, Yuji; Katsuo, Kosuke; Kato, Ayaka; Mori, Ichiro; Yamaguchi, Hiroyuki; Shimizu, Toshimasa; Kobayashi, Satoshi; Kishimoto, Mitsumasa; Oda, Nobuhiro; Rokutanda, Ryo; Nagahata, Ken; Fujiwara, Hiroshi; Kobayashi, Hiroshi; Takeuchi, Yoichi; Hagiyama, Hiroyuki; Umeda, Naoki; Uchino, Kaori; Miyoshi, Yuji; Hidaka, Yukiko; Ida, Hiroaki; Akasaka, Keiichi; Kashino, Kaori; Yoshida, Yusuke; Ohnishi, Hidenori; Takahashi, Noriyuki; Fujieda, Yuichiro; Horita, Nobuyuki; Takase-Minegishi, Kaoru; Matsumoto, Naomichi; Nakajima, Hideaki
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Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-11-01
err0
errOAAI
errKajiwara, Kenta; Liang, Qiaowei; Uchiyama, Yuri; Chong, Pin Fee; Ichimiya, Yuko; Monji, Norihisa; Shimokawa, Sakurako; Sonoda, Motoshi; Watanabe, Eriko; Sakata, Ayumi; Sonoda, Yuri; Akamine, Satoshi; Ishimura, Masataka; Murakami, Yusuke; Kunisaki, Yuya; Sonoda, Koh-Hei; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shouichi
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A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum
errClinical Genetics
IF2.3
err2025-10-28
err0
PREAI
errRyo Sugiyama; Takashi Saito; Hiroyuki Maki; Noriko Sato; Masamune Sakamoto; Naomichi Matsumoto; Yuji Takahashi; Hidehiro Mizusawa; Hirofumi Komaki
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Reply to Letter to the Editor regarding the article “SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications”
errEpilepsia Open
IF2.9
err2025-10-23
err0
errOAAI
errYoko Kobayashi Takahashi; Kenshiro Tabata; Shimpei Baba; Eri Takeshita; Noriko Sumitomo; Yuko Shimizu-Motohashi; Takashi Saito; Eiji Nakagawa; Atsushi Ishii; Shinichi Hirose; Mitsuhiro Kato; Naomichi Matsumoto; Hirofumi Komaki; Ken Inoue
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errSave
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
errBMC OPHTHALMOLOGY
IF1.7
err2025-10-14
err0
errOAAI
errVilella, Thaina; Nunes, Beatriz Carvalho; Del Valle, Giulia Steuernagel; Pinheiro, Isabel Furquim; Aoi, Hiromi; Mizuguchi, Takeshi; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Kim, Chong Ae; Sallum, Juliana Maria Ferraz; Melaragno, Maria Isabel; Cristovam, Priscila Cardoso
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Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
errBRAIN & DEVELOPMENT
IF1.3
err2025-10-01
err0
errOAAI
errKobayashi, Yu; Sakuma, Satoru; Morimoto, Emiko; Fujii, Hitomi; Yamada, Kei; Hojo, Moemi; Miura, Masaki; Tohyama, Jun; Miya, Fuyuki; Kato, Mitsuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi
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Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-10-01
err0
errOAAI
errNakamura, Sadao; Chinen, Yasutsugu; Minema, Hirotaka; Honda, Ryoko; Ono, Tomonori; Mizuguchi, Takeshi; Matsumoto, Naomichi; Nakanishi, Koichi
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Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
errHUMAN GENOME VARIATION
IF0
err2025-09-15
err0
errOAAI
errKido, Jun; Mizukami, Tomoyuki; Misumi, Yohei; Sugawara, Keishin; Kusunoki, Shouichirou; Nishimura, Naoto; Mizuguchi, Takeshi; Matsumoto, Naomichi; Ueda, Mitsuharu; Nakamura, Kimitoshi
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A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing
errHUMAN GENOME VARIATION
IF0
err2025-09-03
err0
errOAAI
errSuga, Kenichi; Sato, Hiroki; Suzue, Masashi; Honma, Yukako; Hayabuchi, Yasunobu; Nakagawa, Ryuji; Shinomiya, Kayo; Okamoto, Nobuhiko; Inoue, Yuta; Tsuchida, Naomi; Matsumoto, Naomichi; Morino, Hiroyuki; Izumi, Yuishin; Urushihara, Maki
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Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
errJournal of Human Genetics
IF2.5
err2025-08-27
err0
PREAI
errYukina Hayashi; Keisuke Hamada; Kavitha Rethanavelu; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Satoko Miyatake; Takeshi Mizuguchi; Kazuhiro Ogata; Atsushi Fujita; Naomichi Matsumoto
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Research Directions

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Co-authors
Cooperation Journals
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
W
William B. Dobyns
H-index: 127 · Papers: 600
G
Gustavo Turecki
H-index: 127 · Papers: 1.3K
H
Henry Houlden
H-index: 120 · Papers: 1.5K
D
Deborah A. Nickerson
H-index: 120 · Papers: 675
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