Noriko Miyake

2.3k citations

47 papers · 965 indexed · h-index 17

Genetics top 5%
- Genomics and Rare Diseases 15
- Genomic variations and chromosomal abnormalities 11
- Genetics and Neurodevelopmental Disorders 10
- Genetic Syndromes and Imprinting 4
Immunology
Pathology and Forensic Medicine top 10%
Molecular Biology
- Epigenetics and DNA Methylation 5
- Mitochondrial Function and Pathology 4
Pharmacy top 10%
Cellular and Molecular Neuroscience
- Genetic Neurodegenerative Diseases 5
Neurology
- Neurological diseases and metabolism 3

Co-authors: Naomichi Matsumoto Norio Niikawa Nobuhiko Okamoto Satoko Miyatake Takeshi Mizuguchi Hideaki Sato Masatoshi Nakazawa Tatsuma Ban
Cited by: Genetics Immunology Pathology and Forensic Medicine
Journals: Blood (1 paper)Journal of Autism and Developmental Disorders (1 paper)Investigative Ophthalmology & Visual Science (1 paper)
Partner nations: Japan United States Chile

In The Last Decade

Noriko Miyake

44 papers receiving 939 citations

Peers

Countries citing papers authored by Noriko Miyake

Since Specialization

Citations

This map shows the geographic impact of Noriko Miyake's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Noriko Miyake with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Noriko Miyake more than expected).

Fields of papers citing papers by Noriko Miyake

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Noriko Miyake. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Noriko Miyake. The network helps show where Noriko Miyake may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Noriko Miyake, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Noriko Miyake Line = papers co-authored together Noriko Miyake links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B Parkinsonism & Related Disorders ·Naoto Sugeno,Satoko Kumada,Hirofumi Kashii,Jun Ikezawa,Toshitaka Kawarai,Takaaki Nakamura,Ako Miyata,Shun Ishiyama,Kazuki Sato,Shun Yoshida,Hutoshi Sekiguchi,Kohei Hamanaka,Satoko Miyatake,Noriko Miyake,Naomichi Matsumoto,Hiroyuki Akagawa,Kenjiro Kosaki,Hiroshi Yoshihashi,Takafumi Hasegawa,Masashi Aoki	2024	1
2	A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms Journal of Clinical Immunology ·Sanami Takada,Silvanna Gallo,Sebastián Silva,Hiroki Tanaka,Oscar Pincheira,Joaquı́n Zúñiga,Milena Villarroel,Ximena Hidalgo,Joel Melo-Tanner,Hidefumi Suzuki,Shinichi Machida,Hidehisa Takahashi,Noriko Miyake	2024	1
3	Human phenotype caused by biallelic KDM4B frameshift variant Clinical Genetics ·Sanami Takada,Sebastián Silva,Ivonne Zamorano,A. Sánchez Pérez,Chisato Iwabuchi,Noriko Miyake	2023	2
4	Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants Clinical Genetics ·Yuta Inoue,Naomi Tsuchida,Nobuhiko Okamoto,Shuichi Shimakawa,Kei Ohashi,Shinji Saitoh,Atsushi Ogawa,Keisuke Hamada,Masamune Sakamoto,Noriko Miyake,Kohei Hamanaka,Atsushi Fujita,Eriko Koshimizu,Satoko Miyatake,Takeshi Mizuguchi,Kazuhiro Ogata,Yuri Uchiyama,Naomichi Matsumoto	2022	1
5	Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes Translational Psychiatry ·Hiroki Kimura,Masahiro Nakatochi,Branko Aleksić,James P. Guevara,Miho Toyama,Yu Hayashi,Hidekazu Kato,Itaru Kushima,Mako Morikawa,Kanako Ishizuka,Takashi Okada,Yoshinori Tsurusaki,Atsushi Fujita,Noriko Miyake,Tomoo Ogi,Atsushi Takata,Naomichi Matsumoto,Joseph D. Buxbaum,Norio Ozaki,Jonathan Sebat	2022	8
6	Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy Clinical Genetics ·Ken Saida,Junya Tamaoki,Masayuki Sasaki,Muzhirah Haniffa,Eriko Koshimizu,Toru Sengoku,Hiroki Maeda,Masahiro Kikuchi,Haruna Yokoyama,Masamune Sakamoto,Kazuhiro Iwama,Futoshi Sekiguchi,Kohei Hamanaka,Atsushi Fujita,Takeshi Mizuguchi,Kazuhiro Ogata,Noriko Miyake,Satoko Miyatake,Makoto Kobayashi,Naomichi Matsumoto	2021	18
7	A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face Clinical Genetics ·Noriko Miyake,Sebastián Silva,M. Troncoso,Nobuhiko Okamoto,Yoshiki Andachi,Mitsuhiro Kato,Chisato Iwabuchi,Mio Hirose,Atsushi Fujita,Yuri Uchiyama,Naomichi Matsumoto	2021	5
8	Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Journal of Autism and Developmental Disorders ·Kei Ohashi,Satomi Fukuhara,Taishi Miyachi,Tomoko Asai,Masayuki Imaeda,Masahide Goto,Yoshie Kurokawa,Tatsuya Anzai,Yoshinori Tsurusaki,Noriko Miyake,Naomichi Matsumoto,Takanori Yamagata,Shinji Saitoh	2021	7
9	Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy Neurology Genetics ·Tasuku Ishihara,Tomoko Okamoto,Ken Saida,Yuji Saitoh,Shinji Oda,Terunori Sano,Takuhiro Yoshida,Yuki Morita,Atsushi Fujita,Hiromi Fukuda,Noriko Miyake,Takeshi Mizuguchi,Yuko Saito,Yoshiki Sekijima,Naomichi Matsumoto,Yuji Takahashi	2020	25
10	Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing Genomics ·Takeshi Mizuguchi,Nobuhiko Okamoto,Keiko Yanagihara,Satoko Miyatake,Yuri Uchiyama,Naomi Tsuchida,Kohei Hamanaka,Atsushi Fujita,Noriko Miyake,Naomichi Matsumoto	2020	11
11	A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor Epilepsy & Behavior Reports ·Kazuhiro Haginoya,Futoshi Sekiguchi,Mitsutoshi Munakata,Hiroyuki Yokoyama,Naomi Hino‐Fukuyo,Mitsugu Uematsu,Kazutaka Jin,Ken‐ichi Nagamatsu,Tadashi Ando,Noriko Miyake,Naomichi Matsumoto,Shigeo Kure	2020	5
12	Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report BMC Neurology ·Kouhei Den,Yosuke Kudo,Mitsuhiro Kato,Kosuke Watanabe,Hiroshi Doi,Fumiaki Tanaka,Hirokazu Oguni,Satoko Miyatake,Takeshi Mizuguchi,Atsushi Takata,Noriko Miyake,Satomi Mitsuhashi,Naomichi Matsumoto	2019	18
13	A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report BMC Medical Genetics ·Hye Sun Hyun,Seong Heon Kim,Eujin Park,Myung Hyun Cho,Hee Gyung Kang,Hyun Soon Lee,Noriko Miyake,Naomichi Matsumoto,Hiroyasu Tsukaguchi,Hae Il Cheong	2018	15
14	Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2 Bone Marrow Transplantation ·Minako Sugiyama,Akihiro Iguchi,Masafumi Yamada,Yukayo Terashita,Junjiro Ohshima,Y Cho,Noriko Miyake,Naomichi Matsumoto,M. Ueki,Yuichiro Yamazaki,Shunichiro Takezaki,Ichiro Kobayashi,Tadashi Ariga	2017	5
15	Aortic aneurysm and craniosynostosis in a family with Cantu syndrome American Journal of Medical Genetics Part A ·Yoko Hiraki,Satoko Miyatake,Michiko Hayashidani,Yutaka Nishimura,Hiroo Matsuura,Masahiro Kamada,Takuji Kawagoe,Keiji Yunoki,Nobuhiko Okamoto,Hiroko Yofune,Mitsuko Nakashima,Yoshinori Tsurusaki,Hirotomo Satisu,Akira Murakami,Noriko Miyake,Gen Nishimura,Naomichi Matsumoto	2013	28
16	CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome American Journal of Medical Genetics Part A ·Noriko Miyake,Caroline Andrews,Wen Fan,Wei He,Wai‐Man Chan,Elizabeth C. Engle	2009	22
17	Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome Journal of Human Genetics ·Hideo Kuniba,Koh-ichiro Yoshiura,Tatsuro Kondoh,Hirofumi Ohashi,Kenji Kurosawa,Hidefumi Tonoki,Toshiro Nagai,Nobuhiko Okamoto,Mitsuhiro Kato,Yoshimitsu Fukushima,Tadashi Kaname,Kenji Naritomi,Tadashi Matsumoto,Hiroyuki Moriuchi,Tatsuya Kishino,Akira Kinoshita,Noriko Miyake,Naomichi Matsumoto,Norio Niikawa	2009	27
18	No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome American Journal of Medical Genetics Part A ·Hideo Kuniba,Daisuke Sato,Koh‐ichiro Yoshiura,Hirofumi Ohashi,Kenji Kurosawa,Noriko Miyake,T Kondoh,Tadashi Matsumoto,Toshiro Nagai,Nobuhiko Okamoto,Yoshimitsu Fukushima,Kenji Naritomi,Naomichi Matsumoto,Norio Niikawa	2008	1
19	Molecular characterization of inv dup del(8p): Analysis of five cases American Journal of Medical Genetics Part A ·Osamu Shimokawa,Kenji Kurosawa,Tomoko Ida,Naoki Harada,Tatsuro Kondoh,Noriko Miyake,Koh-ichiro Yoshiura,Tatsuya Kishino,Tohru Ohta,Norio Niikawa,Naomichi Matsumoto	2004	61
20	On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS American Journal of Medical Genetics Part A ·Noriko Miyake,Naoki Harada,Osamu Shimokawa,Hirofumi Ohashi,Kenji Kurosawa,Tadashi Matsumoto,Yoshimitsu Fukushima,Toshiro Nagai,Vorasuk Shotelersuk,Ko‐ichiro Yoshiura,Tohru Ohta,Tatsuya Kishino,Norio Niikawa,Naomichi Matsumoto	2004	24

About Noriko Miyake

Noriko Miyake is a scholar working on Genetics, Genetics and Developmental Biology, having authored 47 papers that have together received 965 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (15 papers), Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (10 papers), Genetic Neurodegenerative Diseases (5 papers), Epigenetics and DNA Methylation (5 papers), Genetic Syndromes and Imprinting (4 papers), Mitochondrial Function and Pathology (4 papers) and Neurological diseases and metabolism (3 papers). The work is most often cited by research in Genetics (399 citations), Immunology (175 citations) and Pathology and Forensic Medicine (117 citations). Noriko Miyake has collaborated with scholars based in Japan, United States and Chile. Frequent co-authors include Naomichi Matsumoto, Norio Niikawa, Nobuhiko Okamoto, Satoko Miyatake, Takeshi Mizuguchi, Hideaki Sato, Masatoshi Nakazawa, Tatsuma Ban, Keiko Ozato and Michio Yamamoto. Their work appears in journals such as Blood, Journal of Autism and Developmental Disorders and Investigative Ophthalmology & Visual Science.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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