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Noriko Miyake

National Center for Global Health and Medicine

25H-index
171Paper Count
2.3KCitation Count
Published Papers 25
Publication Date
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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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errSave
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
erramerican journal of human genetics
IF0
err2025-06-18
err0
PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
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errSave
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-02-20
err0
PREAI
errMiyake, Noriko; Shiga, Kentaro; Hasegawa, Yuya; Iwabuchi, Chisato; Shiroshita, Kohei; Kobayashi, Hiroshi; Takubo, Keiyo; Velilla, Fabien; Maeno, Akiteru; Kawasaki, Toshihiro; Imai, Yukiko; Sakai, Noriyoshi; Hirose, Tomonori; Fujita, Atsushi; Takahashi, Hidehisa; Okamoto, Nobuhiko; Enokizono, Mikako; Iwasaki, Shiho; Ito, Shuichi; Matsumoto, Naomichi
errShare
errSave
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-12-14
err0
errOAAI
errTakada, Sanami; Gallo, Silvanna; Silva, Sebastian; Tanaka, Hiroki; Pincheira, Oscar; Zuniga, Juan; Villarroel, Marcela; Hidalgo, Ximena; Melo-Tanner, Joel; Suzuki, Hidefumi; Machida, Shinichi; Takahashi, Hidehisa; Miyake, Noriko
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errSave
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B
errPARKINSONISM & RELATED DISORDERS
IF3.4
err2024-07-01
err0
errOAAI
errSugeno, Naoto; Kumada, Satoko; Kashii, Hirofumi; Ikezawa, Jun; Kawarai, Toshitaka; Nakamura, Takaaki; Miyata, Ako; Ishiyama, Shun; Sato, Kazuki; Yoshida, Shun; Sekiguchi, Hutoshi; Hamanaka, Kohei; Miyatake, Satoko; Miyake, Noriko; Matsumoto, Naomichi; Akagawa, Hiroyuki; Kosaki, Kenjiro; Yoshihashi, Hiroshi; Hasegawa, Takafumi; Aoki, Masashi
errShare
errSave
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome
errJOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
err2024-04-23
err3
errOAAI
errTakeda, Yukiko; Ueki, Masahiro; Matsuhiro, Junpei; Walinda, Erik; Tanaka, Takayuki; Yamada, Masafumi; Fujita, Hiroaki; Takezaki, Shunichiro; Kobayashi, Ichiro; Tamaki, Sakura; Nagata, Sanae; Miyake, Noriko; Matsumoto, Naomichi; Osawa, Mitsujiro; Yasumi, Takahiro; Heike, Toshio; Ohtake, Fumiaki; Saito, Megumu K.; Toguchida, Junya; Takita, Junko; Ariga, Tadashi; Iwai, Kazuhiro
errShare
errSave
Molecular diagnosis of 405 individuals with autism spectrum disorder
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-03-27
err7
errOAAI
errMiyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi
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errSave
A novel NONO variant that causes developmental delay and cardiac phenotypes ( jan, 2023, 10.1038/s41598-023-27770-6,)
errSCIENTIFIC REPORTS
IF3.9
err2023-03-09
err0
errOAAI
errItai, Toshiyuki; Sugie, Atsushi; Nitta, Yohei; Maki, Ryuto; Suzuki, Takashi; Shinkai, Yoichi; Watanabe, Yoshihiro; Nakano, Yusuke; Ichikawa, Kazushi; Okamoto, Nobuhiko; Utsuno, Yasuhiro; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Uchiyama, Yuri; Tsuchida, Naomi; Miyake, Noriko; Misawa, Kazuharu; Mizuguchi, Takeshi; Miyatake, Satoko; Matsumoto, Naomichi
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errSave
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms
errHUMAN GENOMICS
IF4.3
err2022-10-21
err6
errOAAI
errHitomi, Yuki; Aiba, Yoshihiro; Ueno, Kazuko; Nishida, Nao; Kawai, Yosuke; Kawashima, Minae; Tsuiji, Makoto; Iwabuchi, Chisato; Takada, Sanami; Miyake, Noriko; Nagasaki, Masao; Tokunaga, Katsushi; Nakamura, Minoru
errShare
errSave
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes
errTRANSLATIONAL PSYCHIATRY
IF6.2
err2022-07-11
err7
errOAAI
errKimura, Hiroki; Nakatochi, Masahiro; Aleksic, Branko; Guevara, James; Toyama, Miho; Hayashi, Yu; Kato, Hidekazu; Kushima, Itaru; Morikawa, Mako; Ishizuka, Kanako; Okada, Takashi; Tsurusaki, Yoshinori; Fujita, Atsushi; Miyake, Noriko; Ogi, Tomoo; Takata, Atsushi; Matsumoto, Naomichi; Buxbaum, Joseph; Ozaki, Norio; Sebat, Jonathan
errShare
errSave
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome
errBRAIN
IF11.7
err2022-03-31
err22
errOAAI
errMiyatake, Satoko; Yoshida, Kunihiro; Koshimizu, Eriko; Doi, Hiroshi; Yamada, Mitsunori; Miyaji, Yosuke; Ueda, Naohisa; Tsuyuzaki, Jun; Kodaira, Minori; Onoue, Hiroyuki; Taguri, Masataka; Imamura, Shintaro; Fukuda, Hiromi; Hamanaka, Kohei; Fujita, Atsushi; Satoh, Mai; Miyama, Takabumi; Watanabe, Nobuko; Kurita, Yusuke; Okubo, Masaki; Tanaka, Kenichi; Kishida, Hitaru; Koyano, Shigeru; Takahashi, Tatsuya; Ono, Yoya; Higashida, Kazuhiro; Yoshikura, Nobuaki; Ogata, Katsuhisa; Kato, Rumiko; Tsuchida, Naomi; Uchiyama, Yuri; Miyake, Noriko; Shimohata, Takayoshi; Tanaka, Fumiaki; Mizuguchi, Takeshi; Matsumoto, Naomichi
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errSave
Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia
errTRANSLATIONAL PSYCHIATRY
IF6.2
err2021-10-25
err7
errOAAI
errYamamoto, Kana; Kuriu, Toshihiko; Matsumura, Kensuke; Nagayasu, Kazuki; Tsurusaki, Yoshinori; Miyake, Noriko; Yamamori, Hidenaga; Yasuda, Yuka; Fujimoto, Michiko; Fujiwara, Mikiya; Baba, Masayuki; Kitagawa, Kohei; Takemoto, Tomoya; Gotoda-Nishimura, Nanaka; Takada, Tomohiro; Seiriki, Kaoru; Hayata-Takano, Atsuko; Kasai, Atsushi; Ago, Yukio; Kida, Satoshi; Takuma, Kazuhiro; Ono, Fumihito; Matsumoto, Naomichi; Hashimoto, Ryota; Hashimoto, Hitoshi; Nakazawa, Takanobu
errShare
errSave
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment (vol 144, pg 1103, 2021)
errBRAIN
IF11.7
err2021-05-25
err0
errOAAI
errMizuguchi, Takeshi; Toyota, Tomoko; Miyatake, Satoko; Mitsuhashi, Satomi; Doi, Hiroshi; Kudo, Yosuke; Kishida, Hitaru; Hayashi, Noriko; Tsuburaya, Rie S.; Kinoshita, Masako; Fukuyama, Tetsuhiro; Fukuda, Hiromi; Koshimizu, Eriko; Tsuchida, Naomi; Uchiyama, Yuri; Fujita, Atsushi; Takata, Atsushi; Miyake, Noriko; Kato, Mitsuhiro; Tanaka, Fumiaki; Adachi, Hiroaki; Matsumoto, Naomichi
errShare
errSave
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment
errBRAIN
IF11.7
err2021-04-01
err0
errOAAI
errMizuguchi, Takeshi; Toyota, Tomoko; Miyatake, Satoko; Mitsuhashi, Satomi; Doi, Hiroshi; Kudo, Yosuke; Kishida, Hitaru; Hayashi, Noriko; Tsuburaya, Rie S.; Kinoshita, Masako; Fukuyama, Tetsuhiro; Fukuda, Hiromi; Koshimizu, Eriko; Tsuchida, Naomi; Uchiyama, Yuri; Fujita, Atsushi; Takata, Atsushi; Miyake, Noriko; Kato, Mitsuhiro; Tanaka, Fumiaki; Adachi, Hiroaki; Matsumoto, Naomichi
errShare
errSave
De novo ATP1A3 variants cause polymicrogyria
errSCIENCE ADVANCES
IF12.5
err2021-03-26
err20
errOAAI
errMiyatake, Satoko; Kato, Mitsuhiro; Kumamoto, Takuma; Hirose, Tomonori; Koshimizu, Eriko; Matsui, Takaaki; Takeuchi, Hideyuki; Doi, Hiroshi; Hamada, Keisuke; Nakashima, Mitsuko; Sasaki, Kazunori; Yamashita, Akio; Takata, Atsushi; Hamanaka, Kohei; Satoh, Mai; Miyama, Takabumi; Sonoda, Yuri; Sasazuki, Momoko; Torisu, Hiroyuki; Hara, Toshiro; Sakai, Yasunari; Noguchi, Yushi; Miura, Mazumi; Nishimura, Yoko; Nakamura, Kazuyuki; Asai, Hideyuki; Hinokuma, Nodoka; Miya, Fuyuki; Tsunoda, Tatsuhiko; Togawa, Masami; Ikeda, Yukihiro; Kimura, Nobusuke; Amemiya, Kaoru; Horino, Asako; Fukuoka, Masataka; Ikeda, Hiroko; Merhav, Goni; Ekhilevitch, Nina; Miura, Masaki; Mizuguchi, Takeshi; Miyake, Noriko; Suzuki, Atsushi; Ohga, Shouichi; Saitsu, Hirotomo; Takahashi, Hidehisa; Tanaka, Fumiaki; Ogata, Kazuhiro; Ohtaka-Maruyama, Chiaki; Matsumoto, Naomichi
errShare
errSave
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
errJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
err2021-02-15
err9
PREAI
errOhashi, Kei; Fukuhara, Satomi; Miyachi, Taishi; Asai, Tomoko; Imaeda, Masayuki; Goto, Masahide; Kurokawa, Yoshie; Anzai, Tatsuya; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Yamagata, Takanori; Saitoh, Shinji
errShare
errSave
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
errSCIENCE ADVANCES
IF12.5
err2021-01-22
err27
errOAAI
errBeck, David B.; Basar, Mohammed A.; Asmar, Anthony J.; Thompson, Joyce J.; Oda, Hirotsugu; Uehara, Daniela T.; Saida, Ken; Pajusalu, Sander; Talvik, Inga; D'Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Baranano, Kristin W.; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Tamada, Tomoko; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johji; Walkiewicz, Magdalena; Ounap, Katrin; Tifft, Cynthia J.; Aksentijevich, Ivona; Kastner, Daniel L.; Rocha, Pedro P.; Werner, Achim
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Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
errGENOMICS
IF3
err2021-01-01
err10
errOAAI
errMizuguchi, Takeshi; Okamoto, Nobuhiko; Yanagihara, Keiko; Miyatake, Satoko; Uchiyama, Yuri; Tsuchida, Naomi; Hamanaka, Kohei; Fujita, Atsushi; Miyake, Noriko; Matsumoto, Naomichi
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errSave
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy
errNEUROLOGY-GENETICS
IF3.7
err2020-12-01
err24
errOAAI
errIshihara, Tasuku; Okamoto, Tomoko; Saida, Ken; Saitoh, Yuji; Oda, Shinji; Sano, Terunori; Yoshida, Takuhiro; Morita, Yuki; Fujita, Atsushi; Fukuda, Hiromi; Miyake, Noriko; Mizuguchi, Takeshi; Saito, Yuko; Sekijima, Yoshiki; Matsumoto, Naomichi; Takahashi, Yuji
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Kabuki syndrome: international consensus diagnostic criteria
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2018-12-04
err171
PREAI
errAdam, Margaret P.; Banka, Siddharth; Bjornsson, Hans T.; Bodamer, Olaf; Chudley, Albert E.; Harris, Jaqueline; Kawame, Hiroshi; Lanpher, Brendan C.; Lindsley, Andrew W.; Merla, Giuseppe; Miyake, Noriko; Okamoto, Nobuhiko; Stumpel, Constanze T.; Niikawa, Norio
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
J
Joseph D. Buxbaum
H-index: 140 · Papers: 791
W
William B. Dobyns
H-index: 127 · Papers: 600
H
Henry Houlden
H-index: 120 · Papers: 1.5K
T
Tatsuhiko Tsunoda
H-index: 120 · Papers: 593
N
Nils Brose
H-index: 103 · Papers: 407
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