Kazuhiro Iwama

773 citations

22 papers · 204 indexed · h-index 10

Co-authors: Naomichi Matsumoto Takeshi Mizuguchi Satoko Miyatake Shuichi Ito Atsushi Takata Satomi Mitsuhashi Hirotomo Saitsu Noriko Miyake
Topics: Genetics and Neurodevelopmental Disorders (6 papers)RNA regulation and disease (5 papers)Metabolism and Genetic Disorders (5 papers)
Cited by: Clinical Biochemistry Cellular and Molecular Neuroscience Molecular Biology
Journals: SHILAP Revista de lepidopterologíaDevelopmental Medicine & Child Neurology Molecular Genetics and Metabolism
Partner nations: Japan Israel Malaysia

In The Last Decade

Kazuhiro Iwama

21 papers receiving 201 citations

Peers

Countries citing papers authored by Kazuhiro Iwama

Since Specialization

Citations

This map shows the geographic impact of Kazuhiro Iwama'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 Kazuhiro Iwama with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Kazuhiro Iwama more than expected).

Fields of papers citing papers by Kazuhiro Iwama

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Kazuhiro Iwama. 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 Kazuhiro Iwama. The network helps show where Kazuhiro Iwama may publish in the future.

Co-authorship network of co-authors of Kazuhiro Iwama

This figure shows the co-authorship network connecting the top 25 collaborators of Kazuhiro Iwama. A scholar is included among the top collaborators of Kazuhiro Iwama based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Kazuhiro Iwama. Kazuhiro Iwama is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins 2024 ·Human Genome Variation ·(unknown),Kazuhiro Iwama,(unknown),(unknown),(unknown),(unknown),Atsushi Takahashi,(unknown),(unknown),(unknown),(unknown),Shuichi Ito	0
2	A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities 2023 ·Journal of Human Genetics ·(unknown),Kenji Kurosawa,(unknown),Kazuhiro Iwama,(unknown),(unknown),Nobuhiko Okamoto,Naomi Tsuchida,Yuri Uchiyama,Eriko Koshimizu,Atsushi Fujita,Kazuharu Misawa,Satoko Miyatake,Takeshi Mizuguchi,Naomichi Matsumoto	1
3	Severe Early-Onset Vitamin K Deficiency Bleeding in a Neonate Born to a Mother with Crohn's Disease in Clinical Remission: A Case Report 2023 ·American Journal of Perinatology Reports ·(unknown),(unknown),(unknown),(unknown),Kazuhiro Iwama,(unknown),(unknown),(unknown),Jun Shibasaki,Shuichi Ito	1
4	A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants 2023 ·SHILAP Revista de lepidopterología ·Kazuo Kodama,(unknown),(unknown),Jun‐ichi Takanashi,Eriko Koshimizu,Satoko Miyatake,Kazuhiro Iwama,Takeshi Mizuguchi,Naomichi Matsumoto,Taku Omata	1
5	Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1 2022 ·SHILAP Revista de lepidopterología ·(unknown),Masano Amamoto,Tomoyuki Takahashi,(unknown),Kotaro Yuge,Munetsugu Hara,Kazuhiro Iwama,Naomichi Matsumoto,Toyojiro Matsuishi	1
6	Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy 2021 ·Clinical Genetics ·Ken Saida,(unknown),Masayuki Sasaki,(unknown),Eriko Koshimizu,Toru Sengoku,Hiroki Maeda,Masahiro Kikuchi,(unknown),(unknown),Kazuhiro Iwama,Futoshi Sekiguchi,Kohei Hamanaka,Atsushi Fujita,Takeshi Mizuguchi,Kazuhiro Ogata,Noriko Miyake,Satoko Miyatake,Makoto Kobayashi,Naomichi Matsumoto	18
7	Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy 2020 ·Journal of Human Genetics ·(unknown),Kazuhiro Iwama,Futoshi Sekiguchi,(unknown),Satoko Kumada,Keiko Ishigaki,Nobuhiko Okamoto,Mahdiyeh Behnam,Mohsen Ghadami,Eriko Koshimizu,Satoko Miyatake,Satomi Mitsuhashi,Takeshi Mizuguchi,Atsushi Takata,Hirotomo Saitsu,Noriko Miyake,Naomichi Matsumoto	13
8	Nonsense variants of STAG2 result in distinct congenital anomalies 2020 ·Human Genome Variation ·(unknown),Ming Lei,Takeshi Mizuguchi,(unknown),Tomohide Goto,Sahoko Miyama,Toshifumi Suzuki,Kazuhiro Iwama,Yuri Uchiyama,Satomi Mitsuhashi,Atsuo Itakura,Satoru Takeda,Naomichi Matsumoto	7
9	Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency 2020 ·Brain and Development ·Atsushi Morita,(unknown),Tatsuyuki Ohto,Mai Tanaka,(unknown),(unknown),Kazuhiro Iwama,Takeshi Mizuguchi,Naomichi Matsumoto,Masashi Morita,Shigeo Takashima,Nobuyuki Shimozawa,Hidetoshi Takada	9
10	A case of novel <i>WDR45</i> mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs 2020 ·Rinsho Shinkeigaku ·Ryota Sato,Michiaki Koga,Kazuhiro Iwama,(unknown),Naomichi Matsumoto,Takashi Kanda	2
11	Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2 2019 ·European Journal of Medical Genetics ·Takehiko Inui,Kazuhiro Iwama,(unknown),Ryo Sato,(unknown),Wakaba Endo,Noriko Togashi,Yosuke Kakisaka,Atsuo Kikuchi,Takeshi Mizuguchi,Shigeo Kure,Naomichi Matsumoto,Kazuhiro Haginoya	1
12	Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation 2019 ·Brain and Development ·Ayumi Matsumoto,Masako Nagashima,Kazuhiro Iwama,Takeshi Mizuguchi,Shinji Makino,Takahiro Ikeda,Kazuhiro Muramatsu,Naomichi Matsumoto,Takanori Yamagata,Hitoshi Osaka	5
13	De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies 2018 ·Brain and Development ·(unknown),Munetsugu Hara,Kazuhiro Iwama,Kotaro Yuge,Chihiro Ohba,(unknown),(unknown),Yushiro Yamashita,Nobuhiko Okamoto,Hirotomo Saitsu,Naomichi Matsumoto,Toyojiro Matsuishi	10
14	Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy 2018 ·Journal of Human Genetics ·Kazuhiro Iwama,(unknown),Ai Fukushima,Jun Tohyama,Akihiko Ishiyama,Chihiro Ohba,Satomi Mitsuhashi,Satoko Miyatake,Atsushi Takata,Noriko Miyake,Shuichi Ito,Hirotomo Saitsu,Takeshi Mizuguchi,Naomichi Matsumoto	15
15	Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic 2018 ·Journal of Human Genetics ·Kohei Hamanaka,Satoko Miyatake,Ayelet Zerem,Dorit Lev,Luba Blumkin,Kenji Yokochi,Atsushi Fujita,Eri Imagawa,Kazuhiro Iwama,Mitsuko Nakashima,Satomi Mitsuhashi,Takeshi Mizuguchi,Atsushi Takata,Noriko Miyake,Hirotomo Saitsu,Marjo S. van der Knaap,Tally Lerman‐Sagie,Naomichi Matsumoto	14
16	A novel SLC9A1 mutation causes cerebellar ataxia 2018 ·Journal of Human Genetics ·Kazuhiro Iwama,Hitoshi Osaka,Takahiro Ikeda,Satomi Mitsuhashi,Satoko Miyatake,Atsushi Takata,Noriko Miyake,Shuichi Ito,Takeshi Mizuguchi,Naomichi Matsumoto	27
17	Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening 2018 ·Molecular Genetics and Metabolism ·(unknown),Masahiro Endo,Hiroko Yanagisawa,Mohammad Arif Hossain,(unknown),(unknown),Takashi Miyajima,(unknown),Takeo Iwamoto,(unknown),Yu Kobayashi,Jun Tohyama,Kazuhiro Iwama,Naomichi Matsumoto,Haruo Shintaku,Yoshikatsu Eto	6
18	A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl 2018 ·Brain and Development ·Kotaro Yuge,Kazuhiro Iwama,(unknown),(unknown),Nozomi Sano,(unknown),(unknown),Yushiro Yamashita,Takeshi Mizuguchi,Naomichi Matsumoto,Toyojiro Matsuishi	9
19	A novel mutation in SLC1A3 causes episodic ataxia 2017 ·Journal of Human Genetics ·Kazuhiro Iwama,Aya Iwata,Masaaki Shiina,Satomi Mitsuhashi,Satoko Miyatake,Atsushi Takata,Noriko Miyake,Kazuhiro Ogata,Shuichi Ito,Takeshi Mizuguchi,Naomichi Matsumoto	29
20	Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations 2016 ·Journal of Human Genetics ·Kazuhiro Iwama,Masayuki Sasaki,Shinichi Hirabayashi,Chihiro Ohba,(unknown),Satoko Miyatake,Mitsuko Nakashima,Noriko Miyake,Shuichi Ito,Hirotomo Saitsu,Naomichi Matsumoto	23

About Kazuhiro Iwama

Kazuhiro Iwama is a scholar working on Clinical Biochemistry, Molecular Biology and Genetics, having authored 22 papers that have together received 204 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (6 papers), RNA regulation and disease (5 papers) and Metabolism and Genetic Disorders (5 papers). The work is most often cited by research in Clinical Biochemistry (24 citations), Cellular and Molecular Neuroscience (36 citations) and Molecular Biology (135 citations). Kazuhiro Iwama has collaborated with scholars based in Japan, Israel and Malaysia. Frequent co-authors include Naomichi Matsumoto, Takeshi Mizuguchi, Satoko Miyatake, Shuichi Ito, Atsushi Takata, Satomi Mitsuhashi, Hirotomo Saitsu, Noriko Miyake, Noriko Miyake and Kazuhiro Ogata. Their work appears in journals such as SHILAP Revista de lepidopterología, Developmental Medicine & Child Neurology and Molecular Genetics and Metabolism.

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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