Tadashi Kaname

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 54

Top Venues

Human genome variation

Journal of human genetics

American journal of medical genetics. Part A

Pediatrics international : official journal of the Japan Pediatric Society

National Center For Child Health and Development

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

Affiliation History

National Center For Child Health and Development

Japan

Director :: Department of Genome Medicine

Publications

Nobuhiko Okamoto, Sayaka Yoshida, Ayako Ogitani, Yuri Etani, Kumiko Yanagi, Tadashi Kaname
Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty. American journal of medical genetics. Part A (2024)
Yoichiro Kamatani, Tadashi Kaname
Artificial intelligence in medical genomics. Journal of human genetics (2024)
Atsushi Watanabe, Lu Wang, Tze King Tan, Kevin Y Urayama, Toshihiko Kizuki, Chiaki Komatsu, Keiko Kagami, Tamao Shinohara, Shin Kasai, Minori Tamai, Daisuke Harama, Koshi Akahane, Kumiko Goi, Hiroaki Goto, Kazuhito Satou, Tadashi Kaname, Takaomi Sanda, Takeshi Inukai
Acquired copy number amplification at the MYC enhancer in human B-precursor acute lymphoblastic leukemia cell lines. Cancer science (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. Journal of human genetics (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)
Hiroyoshi Kouno, Shinji Kunishima, Junko Takebe, Toru Uchiyama, Tadashi Kaname, Akira Ishiguro
Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders. International journal of laboratory hematology (2023)
Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
A novel HECW2 variant in an infant with congenital long QT syndrome. Human genome variation 10 (1) (2023)
Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Kazuhito Satou, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Tadashi Kaname
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing. Journal of human genetics (2023)
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. Human genome variation 10 (1) (2023)
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-Ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. PLoS genetics 19 (12) (2023)
Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Kazuhito Satou, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Tadashi Kaname
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing. Journal of human genetics (2023)
Shingo Kawano, Kimi Araki, Jie Bai, Imari Furukawa, Keigo Tateishi, Kumiko Yoshinobu, Shingo Usuki, Rachael A Nimmo, Tadashi Kaname, Masaharu Yoshihara, Satoru Takahashi, Goro Sashida, Masatake Araki
A gain-of-function mutation in micro-RNA-142 is sufficient to cause the development of T-cell leukemia in mice. Cancer science (2023)
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, Tomomi Yamaguchi, Tomoki Kosho, Keiko Matsubara, Yoko Kuroki, Maki Fukami, Kaori Adachi, Eiji Nanba, Naomi Tsuchida, Yuri Uchiyama, Naomichi Matsumoto, Kunihiro Nishimura, Osamu Ohara
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing. Nucleic acids research (2023)
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. Human genome variation 10 (1) (2023)
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. Human genome variation 10 (1) (2023)
Yuya Fukuda, Yoshimasa Kudo, Makoto Saito, Tadashi Kaname, Tohru Oota, Reikichi Shoji
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient. Human genome variation 9 (1) (2022)
Hiroyuki Iijima, Kumiko Yanagi, Tadashi Kaname, Mitsuru Kubota
Feeding disorder in a patient with Wiedemann-Steiner syndrome. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Mako Kimura Wada, Yasuyuki Fukuhara, Itaru Hayakawa, Tadashi Kaname, Akira Ishiguro
KARS-related diseases with macrothrombocytes and pulmonary arterial hypertension. Pediatrics international : official journal of the Japan Pediatric Society (2022)
Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI. Human genome variation 9 (1) (2022)
Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura
Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants. Endocrine connections 11 (10) (2022)
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
Novel NARS2 variant causing leigh syndrome with normal lactate levels. Human genome variation 9 (1) (2022)
Akira Ganaha, Eiji Hishinuma, Tadashi Kaname, Masahiro Hiratsuka, Shunsuke Kondo, Tetsuya Tono
Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Journal of clinical medicine 11 (4) (2022)
Minori Tamai, Shinichi Fujisawa, Thao T T Nguyen, Chiaki Komatsu, Keiko Kagami, Kenji Kamimoto, Kohei Omachi, Shin Kasai, Daisuke Harama, Atsushi Watanabe, Koshi Akahane, Kumiko Goi, Kazuhito Naka, Tadashi Kaname, Takanori Teshima, Takeshi Inukai
Creation of Philadelphia chromosome by CRISPR/Cas9-mediated double cleavages on BCR and ABL1 genes as a model for initial event in leukemogenesis. Cancer gene therapy (2022)
Naomi Nihonmatsu-Kikuchi, Xiu-Jun Yu, Yoshiki Matsuda, Nobuyuki Ozawa, Taeko Ito, Kazuhito Satou, Tadashi Kaname, Yasushi Iwasaki, Akio Akagi, Mari Yoshida, Shuta Toru, Katsuiku Hirokawa, Akihiko Takashima, Masato Hasegawa, Toshiki Uchihara, Yoshitaka Tatebayashi
Publisher Correction: Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease. Communications biology 4 (1) (2021)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
HECW2-related disorder in four Japanese patients. American journal of medical genetics. Part A 185 (10) (2021)
Naomi Nihonmatsu-Kikuchi, Xiu-Jun Yu, Yoshiki Matsuda, Nobuyuki Ozawa, Taeko Ito, Kazuhito Satou, Tadashi Kaname, Yasushi Iwasaki, Akio Akagi, Mari Yoshida, Shuta Toru, Katsuiku Hirokawa, Akihiko Takashima, Masato Hasegawa, Toshiki Uchihara, Yoshitaka Tatebayashi
Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease. Communications biology 4 (1) (2021)
Tetsuro Uchida, Atsushi Yamashita, Ai Ishizawa, Mitsuaki Sadahiro, Nobuyoshi Azuma, Tadashi Kaname
NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis. Interactive cardiovascular and thoracic surgery (2021)
Kimiko Ueda, Satoru Ogawa, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Toshiyuki Yamamoto, Nobuhiko Okamoto
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. American journal of medical genetics. Part A 185 (10) (2021)
Kotaro Ishikawa, Toru Uchiyama, Tadashi Kaname, Toshinao Kawai, Akira Ishiguro
Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome. Pediatrics international : official journal of the Japan Pediatric Society 63 (12) (2021)
Eriko Nishi, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Tadashi Kaname, Toshiyuki Yamamoto, Kenjiro Kosaki, Nobuhiko Okamoto
Clinical spectrum of individuals with de novo EBF3 variants or deletions. American journal of medical genetics. Part A 185 (10) (2021)
Kumiko Yanagi, Noriko Morimoto, Manami Iso, Yukimi Abe, Kohji Okamura, Tomoo Nakamura, Yoichi Matsubara, Tadashi Kaname
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1. Journal of human genetics 66 (10) (2021)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363". American journal of medical genetics. Part A 185 (12) (2021)
Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Seiji Mizuno, Tadashi Kaname, Kenjiro Kosaki, Nobuhiko Okamoto
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. American journal of medical genetics. Part A (2021)
Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease. Human genome variation 8 (1) (2021)
Tetsuro Uchida, Atsushi Yamashita, Ai Ishizawa, Mitsuaki Sadahiro, Nobuyoshi Azuma, Tadashi Kaname
NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis. Interactive cardiovascular and thoracic surgery 34 (1) (2021)
Yasutsugu Chinen, Kumiko Yanagi, Sadao Nakamura, Noriko Nakayama, Motoko Kamiya, Mami Nakayashiro, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data. Human genome variation 7 (2020)
Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu Yamaguchi, Masahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Syunsuke Nagara, Satoko Fukaya, Yukako Muramatsu, Tadashi Kaname, Taihei Tanaka
A case report of rare ZC4H2-associated disorders associated with three large hernias. Pediatrics international : official journal of the Japan Pediatric Society 62 (8) (2020)
Taro Moriwaki, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Osamu Miyazaki, Yoko Narumi-Kishimoto, Tadashi Kaname, Gen Nishimura, Torayuki Okuyama, Yasuyuki Fukuhara
Normal early development in siblings with novel compound heterozygous variants in ASPM. Human genome variation 6 (2020)
Tadashi Kaname
A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors. Journal of human genetics 65 (7) (2020)
Keiko Yamamoto-Shimojima, Taichi Imaizumi, Yusuke Aoki, Ken Inoue, Tadashi Kaname, Yusuke Okuno, Hideki Muramatsu, Kohji Kato, Toshiyuki Yamamoto
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. Journal of human genetics 64 (7) (2019)
Yasutsugu Chinen, Sadao Nakamura, Takuya Kaneshi, Mami Nakayashiro, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Human genome variation 6 (2019)
Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, Yoshihiro Watanabe, Ch'ng Gaik Siew, Chieng Siik Kwong, Kaori Yamoto, Takuya Hiraide, Tokiko Fukuda, Tadashi Kaname, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of human genetics 64 (4) (2019)
Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Tetsuya Tono, Teruyuki Higa, Mikio Suzuki
Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant. Human genome variation 6 (2019)
Kenichi Yamamoto, Takuo Kubota, Shinji Takeyari, Taichi Kitaoka, Kei Miyata, Yukako Nakano, Hirofumi Nakayama, Yasuhisa Ohata, Kumiko Yanagi, Tadashi Kaname, Yukinori Okada, Keiichi Ozono
Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy. American journal of medical genetics. Part A 182 (3) (2019)
Yoichiro Oda, Yuri Uchiyama, Ai Motomura, Atsushi Fujita, Yoshiteru Azuma, Yutaka Harita, Takeshi Mizuguchi, Kumiko Yanagi, Hiroko Ogata, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Keiko Wakui, Naomichi Matsumoto
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. Journal of human genetics 64 (10) (2019)
Manami Iso, Mitsuyoshi Suzuki, Kumiko Yanagi, Kei Minowa, Yumiko Sakurai, Satoshi Nakano, Kazuhito Satou, Toshiaki Shimizu, Tadashi Kaname
The CFTR gene variants in Japanese children with idiopathic pancreatitis. Human genome variation 6 (2019)
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Human genome variation 5 (2018)
Satomi Okano, Akie Miyamoto, Ikue Fukuda, Hajime Tanaka, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Yoshio Makita
Genitopatellar syndrome: the first reported case in Japan. Human genome variation 5 (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Tadashi Kaname