Nobuhiko Okamoto

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 40

Top Venues

American journal of medical genetics. Part A

Journal of human genetics

Congenital anomalies

Human genome variation

Osaka Women's and Children's Hospital

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

Affiliation History

Osaka Women's and Children's Hospital Apr 01 1986

Japan

MD :: Medical Genetics

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)
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)
Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa. Genes 13 (2) (2022)
Ariadne R Lima, Barbara M Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J White, Moez Dawood, Tulio C Lins, Marcela A Chiabai, Ellen van Beusekom, Mara S Cordoba, Erica C C Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M Canó, Alexander A L Jorge, Chong A Kim, Rachel Honjo, Débora R Bertola, Raissa M Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban-Akdemir, Tadahiro Mitani, Shalini N Jhangiani, Donna M Muzny, Neysa A P Regattieri, Robert Pogue, Rinaldo W Pereira, Paulo A Otto, Richard A Gibbs, Bassam R Ali, Hans van Bokhoven, Han G Brunner, V Reid Sutton, James R. Lupski, Angela M Vianna-Morgante, Claudia M B Carvalho, Juliana Forte Mazzeu
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human mutation 43 (7) (2022)
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Yonehiro Kanemura, Shinji Saitoh, Mitsuhiro Kato, Kumiko Yanagi, Tadashi Kaname, Kenjiro Kosaki
Four pedigrees with aminoacyl-tRNA synthetase abnormalities. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
Nobuhiko Okamoto, Tatsuyuki Ohto, Takashi Enokizono, Yoshinao Wada, Tomohiro Kohmoto, Issei Imoto, Yoshimi Haga, Junichi Seino, Tadashi Suzuki
Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles. Cells 10 (11) (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)
Nobuhiko Okamoto, Fuyuki Miya, Yukihiro Kitai, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Kenjiro Kosaki
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 42 (7) (2021)
Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30. Human genome variation 8 (1) (2021)
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, Ken Saida, Sho Narahara, Yu Tsuyusaki, Matheus Augusto Araujo Castro, Chong Ae Kim, Nobuhiko Okamoto, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto
Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics (2021)
Masamune Sakamoto, Kouhei Den, Muzhirah Haniffa, Sebastian Silva, Mónica Troncoso, Paola Santander, Valeria Schonstedt, Ximena Stecher, Nobuhiko Okamoto, Kohei Hamanaka, Takeshi Mizuguchi, Satomi Mitsuhashi, Noriko Miyake, Naomichi Matsumoto
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. Journal of human genetics 65 (9) (2020)
Makito Hirano, Wataru Satake, Nobuko Moriyama, Ken Saida, Nobuhiko Okamoto, Pei-Chieng Cha, Yutaka Suzuki, Susumu Kusunoki, Tatsushi Toda
Bardet-Biedl syndrome and related disorders in Japan. Journal of human genetics 65 (10) (2020)
Tomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, Tamami Yano, Nobuhiko Okamoto, Satoru Nagata, Toshiyuki Yamamoto
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Human mutation 41 (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)
Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, 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
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics 66 (4) (2020)
Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Molecular genetics & genomic medicine 7 (8) (2019)
Nobuhiko Okamoto, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. Congenital anomalies 59 (6) (2019)
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)
Nobuhiko Okamoto, Hiroshi Arai, Toshikazu Onishi, Takeshi Mizuguchi, Naomichi Matsumoto
Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation. Congenital anomalies 60 (1) (2019)
Taichi Imaizumi, Yukiko Mogami, Nobuhiko Okamoto, Keiko Yamamoto-Shimojima, Toshiyuki Yamamoto
De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome. Congenital anomalies 59 (6) (2019)
Tomoko Horinouchi, Naoya Morisada, Hiroyasu Uemura, Daisuke Kobayashi, Kandai Nozu, Nobuhiko Okamoto, Kazumoto Iijima
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. American journal of medical genetics. Part A 179 (7) (2019)
Nobuhiko Okamoto
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation. American journal of medical genetics. Part A 179 (5) (2019)
Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando, Keith A Boroevich, Nobuhiko Okamoto, Mitsuhiro Kato, Tatushiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. Journal of human genetics 63 (9) (2018)
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)
Keiko Yamamoto-Shimojima, Masanori Kouwaki, Yuki Kawashima, Kazuya Itomi, Ken Momosaki, Shiro Ozasa, Nobuhiko Okamoto, Kenji Yokochi, Toshiyuki Yamamoto
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. Congenital anomalies 59 (5) (2018)
Ai Unzaki, Naoya Morisada, Kandai Nozu, Ming Juan Ye, Shuichi Ito, Tatsuo Matsunaga, Kenji Ishikura, Shihomi Ina, Koji Nagatani, Takayuki Okamoto, Yuji Inaba, Naoko Ito, Toru Igarashi, Shoichiro Kanda, Ken Ito, Kohei Omune, Takuma Iwaki, Kazuyuki Ueno, Mayumi Yahata, Yasufumi Ohtsuka, Eriko Nishi, Nobuya Takahashi, Tomoaki Ishikawa, Shunsuke Goto, Nobuhiko Okamoto, Kazumoto Iijima
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. Journal of human genetics 63 (5) (2018)
Nobuhiko Okamoto, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Issei Imoto
Primary microcephaly caused by novel compound heterozygous mutations in ASPM. Human genome variation 5 (2018)
Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, Hiroaki Nagase, Toshiyuki Yamamoto
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. Human genome variation 5 (2018)
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. American journal of medical genetics. Part A 176 (3) (2018)
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. Journal of human genetics 63 (4) (2018)
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
Novel MCA/ID syndrome with ASH1L mutation. American journal of medical genetics. Part A 173 (6) (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)
Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features. Human genome variation 4 (2017)
Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Shuichi Shimakawa, Nobuhiko Okamoto
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. American journal of medical genetics. Part A 173 (5) (2017)
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
Progressive subglottic stenosis in a child with Pallister-Killian syndrome. Congenital anomalies 58 (3) (2017)
Nobuhiko Okamoto, Yuki Tsuchiya, Fuyuki Miya, Tatsuhiko Tsunoda, Kumiko Yamashita, Keith A Boroevich, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Daiju Kitagawa
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. American journal of medical genetics. Part A 173 (10) (2017)
Nobuhiko Okamoto, Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. Congenital anomalies 58 (3) (2017)
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. American journal of medical genetics. Part A 173 (9) (2017)
Nobuhiko Okamoto, Yuki Tsuchiya, Ichiro Kuki, Toshiyuki Yamamoto, Hirotomo Saitsu, Daiju Kitagawa, Naomichi Matsumoto
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation. Molecular genetics & genomic medicine 5 (5) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Nobuhiko Okamoto