Noriko Miyake (N Miyake)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 30

Top Venues

Clinical genetics

American journal of medical genetics. Part A

Human mutation

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Eriko Nishi, Noriko Miyake, Rie Kawamura, Kana Hosoki, Yuiko Hasegawa, Naomichi Matsumoto, Nobuhiko Okamoto
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications. American journal of medical genetics. Part A (2023)
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clinical genetics 102 (1) (2022)
Noriko Miyake, Chong Ae Kim, Kazuhiro Haginoya, Matheus Augusto Araujo Castro, Rachel Sayruri Honjo, Naomichi Matsumoto
De novo pathogenic DHX30 variants in two cases. Clinical genetics 100 (3) (2021)
Rachel Sayuri Honjo Kawahira, Matheus Augusto Araujo Castro, Suely Fazio Ferraciolli, Luiz Alberto Valente Soares Junior, Antonio Carlos Pastorino, Debora Romeo Bertola, Noriko Miyake, Naomichi Matsumoto, Chong Ae Kim
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. American journal of medical genetics. Part A 185 (5) (2021)
Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara, Yuko Tanabe, Takamichi Uchiyama, Naomichi Matsumoto, Tomoki Kosho
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7. American journal of medical genetics. Part A (2021)
Marne Salazar, Noriko Miyake, Sebastian Silva, Benjamín Solar, Gabriela M Papazoglu, Carla Gabriela Asteggiano, Naomichi Matsumoto
COG1-congenital disorders of glycosylation: Milder presentation and review. Clinical genetics 100 (3) (2021)
Noriko Miyake, Bruno de Oliveira Stephan, Chong Ae Kim, Naomichi Matsumoto
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion. Clinical genetics 99 (4) (2021)
Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh
Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel MKKS/BBS6 mutation. Clinical case reports 8 (12) (2020)
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, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, Keng W 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, Tohru 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
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Charlotte K Lautrup, Keng W Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H Sin, Irene K Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Molecular genetics & genomic medicine 8 (5) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Sarah E Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D Krantz, Kosuke Izumi
Clinical and molecular spectrum of CHOPS syndrome. American journal of medical genetics. Part A 179 (7) (2019)
Naomi Tsuchida, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi, Jun Tohyama, Kazue Kimura, Kyoko Hoshino, Vigneswari Ganesan, Keng W Teik, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Satoko Miyatake, Naomichi Matsumoto
GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clinical genetics 94 (6) (2019)
Gökhan Yigit, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M White, Alexandrea Wadley, Mohammad R Toliat, Susanne Motameny, Marek Franitza, Chloe A Stutterd, Pin F Chong, Ryutaro Kira, Toru Sengoku, Kazuhiro Ogata, Maria J Guillen Sacoto, Christine Fresen, Bodo B Beck, Peter Nürnberg, Christoph Dieterich, Bernd Wollnik, Naomichi Matsumoto, Janine Altmüller
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Human mutation 41 (3) (2019)
Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. American journal of medical genetics. Part A 176 (3) (2018)
Eri Imagawa, Y Yamamoto, S Mitsuhashi, B Isidor, T Fukuyama, M Kato, M Sasaki, S Tanabe, S Miyatake, T Mizuguchi, A Takata, Noriko Miyake, N Matsumoto
PRUNE1-related disorder: Expanding the clinical spectrum. Clinical genetics 94 (3-4) (2018)
M Kunii, H Doi, Y Ishii, C Ohba, K Tanaka, M Tada, R Fukai, S Hashiguchi, H Kishida, N Ueda, Y Kudo, C Kugimoto, T Nakano, N Udaka, S Miyatake, Noriko Miyake, H Saitsu, Y Ito, K Takahashi, H Nakamura, A Tomita-Katsumoto, H Takeuchi, S Koyano, N Matsumoto, F Tanaka
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel. Clinical genetics 94 (2) (2018)
Ken Saida, Sebastian Silva, Benjamin Solar, Atsushi Fujita, Kohei Hamanaka, Satomi Mitsuhashi, Eriko Koshimizu, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
SOFT syndrome in a patient from Chile. American journal of medical genetics. Part A 179 (3) (2018)
Eri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Margaret C S Boguszewski, César L Boguszewski, Antonio M Lerario, Mariana F A Funari, Alexander A L Jorge, Naomichi Matsumoto
Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics 94 (5) (2018)
Naomi Tsuchida, M Nakashima, M Kato, E Heyman, T Inui, K Haginoya, S Watanabe, Tomohiro Chiyonobu, M Morimoto, M Ohta, A Kumakura, M Kubota, Y Kumagai, S-I Hamano, C M Lourenco, N A Yahaya, G-S Ch'ng, L-H Ngu, A Fattal-Valevski, M Weisz Hubshman, N Orenstein, D Marom, L Cohen, H Goldberg-Stern, Y Uchiyama, E Imagawa, T Mizuguchi, A Takata, Noriko Miyake, H Nakajima, H Saitsu, S Miyatake, N Matsumoto
Detection of copy number variations in epilepsy using exome data. Clinical genetics 93 (3) (2018)
Tetsuya Okazaki, Y Saito, T Hayashida, S Akaboshi, Noriko Miyake, N Matsumoto, N Kasagi, K Adachi, Y Shinohara, E Nanba, Y Maegaki
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. Clinical genetics 94 (3-4) (2018)
Kohei Hamanaka, K Takahashi, S Miyatake, S Mitsuhashi, H Hamanoue, Y Miyaji, R Fukai, H Doi, A Fujita, Eri Imagawa, Kazuhiro Iwama, M Nakashima, T Mizuguchi, A Takata, Noriko Miyake, H Takeuchi, F Tanaka, N Matsumoto
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. Clinical genetics 94 (2) (2018)
Shoji Yano, Atsuko Fujimoto, Jeanne Morin-Leisk, Naomichi Matumoto, Noriko Miyake, Meghan Gillespie, Harry Gao
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Clinical genetics 94 (5) (2018)
Ghada M H Abdel-Salam, Noriko Miyake, Mohamed S Abdel-Hamid, Inas S M Sayed, Mohamed I Gadelhak, Samira I Ismail, Mona S Aglan, Hanan H Afifi, Samia A Temtamy, Naomichi Matsumoto
Phenotypic and molecular insights into PQBP1-related intellectual disability. American journal of medical genetics. Part A 176 (11) (2018)
Kazuki Takeda, I Kou, N Kawakami, Y Yasuhiko, Y Ogura, E Imagawa, Noriko Miyake, N Matsumoto, H Sudo, T Kotani, null null, M Nakamura, M Matsumoto, K Watanabe, S Ikegawa
Response to Lefebvre et al. Clinical genetics 92 (5) (2018)
Yuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, Masaaki Shiina, Yoshiyuki Ogawa, Mitsuko Nakashima, Junko Hirato, Eri Imagawa, Atsushi Fujita, Kohei Hamanaka, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Hiroshi Handa, Naomichi Matsumoto, Takeshi Mizuguchi
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Clinical genetics 94 (6) (2018)
Noriko Miyake, M Inaba, S Mizuno, M Shiina, E Imagawa, S Miyatake, M Nakashima, T Mizuguchi, A Takata, K Ogata, N Matsumoto
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Clinical genetics 92 (5) (2017)
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariette J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Human mutation 38 (11) (2017)
Naomi Tsuchida, M Nakashima, A Miyauchi, S Yoshitomi, T Kimizu, V Ganesan, K W Teik, G-S Ch'ng, M Kato, T Mizuguchi, A Takata, S Miyatake, Noriko Miyake, H Osaka, T Yamagata, H Nakajima, H Saitsu, N Matsumoto
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clinical genetics 93 (2) (2017)
Noriko Miyake, S Ozasa, H Mabe, S Kimura, M Shiina, E Imagawa, S Miyatake, M Nakashima, T Mizuguchi, A Takata, K Ogata, N Matsumoto
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clinical genetics 93 (4) (2017)

Noriko Miyake.css-eqlu8i{font-size:small;padding-left:4px;} (N Miyake)

Publication Activity (10 Years)

Top Topics

Top Venues

Noriko Miyake (N Miyake)