Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
Mishima, Hiroyuki, Suzuki, Hisato, Doi, Michiko, Miyazaki, Mutsuko, Watanabe, Satoshi, Matsumoto, Tadashi, Morifuji, Kanako, Moriuchi, Hiroyuki, Yoshiura, Koh-Ichiro, Kondoh, Tatsuro, Kosaki, Kenjiro
Published in Journal of human genetics (01.08.2019)
Published in Journal of human genetics (01.08.2019)
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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Okada, Yukinori, Momozawa, Yukihide, Sakaue, Saori, Kanai, Masahiro, Ishigaki, Kazuyoshi, Akiyama, Masato, Kishikawa, Toshihiro, Arai, Yasumichi, Sasaki, Takashi, Kosaki, Kenjiro, Suematsu, Makoto, Matsuda, Koichi, Yamamoto, Kazuhiko, Kubo, Michiaki, Hirose, Nobuyoshi, Kamatani, Yoichiro
Published in Nature communications (24.04.2018)
Published in Nature communications (24.04.2018)
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Involvement of the zebrafish trrap gene in craniofacial development
Suzuki, Taichi, Hirai, Yo, Uehara, Tomoko, Ohga, Rie, Kosaki, Kenjiro, Kawahara, Atsuo
Published in Scientific reports (21.12.2021)
Published in Scientific reports (21.12.2021)
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Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta
Takenouchi, Toshiki, Okuno, Hironobu, Kosaki, Kenjiro
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
Café-au-lait Spots and Cleft Palate: Not a Chance Association
Yamada, Mamiko, Tanito, Katsumi, Suzuki, Hisato, Nakato, Daisuke, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro
Published in The Cleft palate-craniofacial journal (01.11.2024)
Published in The Cleft palate-craniofacial journal (01.11.2024)
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Journal Article
Long-term clinical course of Heyn-Sproul-Jackson syndrome
Futagawa, Hiroshi, Ito, Shiho, Kosaki, Kenjiro, Yoshihashi, Hiroshi
Published in Congenital anomalies (01.09.2023)
Published in Congenital anomalies (01.09.2023)
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Developmental medicine and child neurology (01.01.2021)
Published in Developmental medicine and child neurology (01.01.2021)
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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model
Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki
Published in Scientific reports (14.03.2019)
Published in Scientific reports (14.03.2019)
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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
Yamada, Mamiko, Okuno, Hironobu, Okamoto, Nobuhiko, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro
Published in European journal of medical genetics (01.02.2023)
Published in European journal of medical genetics (01.02.2023)
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The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals
Uwamino, Yoshifumi, Yokoyama, Takashi, Shimura, Takako, Nishimura, Tomoyasu, Sato, Yasunori, Wakui, Masatoshi, Kosaki, Kenjiro, Hasegawa, Naoki, Murata, Mitsuru
Published in Vaccine (18.03.2022)
Published in Vaccine (18.03.2022)
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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter
Umeno, Junji, Hisamatsu, Tadakazu, Esaki, Motohiro, Hirano, Atsushi, Kubokura, Naoya, Asano, Kouichi, Kochi, Shuji, Yanai, Shunichi, Fuyuno, Yuta, Shimamura, Katsuyoshi, Hosoe, Naoki, Ogata, Haruhiko, Watanabe, Takashi, Aoyagi, Kunihiko, Ooi, Hidehisa, Watanabe, Kenji, Yasukawa, Shigeyoshi, Hirai, Fumihito, Matsui, Toshiyuki, Iida, Mitsuo, Yao, Tsuneyoshi, Hibi, Toshifumi, Kosaki, Kenjiro, Kanai, Takanori, Kitazono, Takanari, Matsumoto, Takayuki
Published in PLoS genetics (01.11.2015)
Published in PLoS genetics (01.11.2015)
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Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data
Shiraishi, Yuichi, Okada, Ai, Chiba, Kenichi, Kawachi, Asuka, Omori, Ikuko, Mateos, Raúl Nicolás, Iida, Naoko, Yamauchi, Hirofumi, Kosaki, Kenjiro, Yoshimi, Akihide
Published in Nature communications (29.09.2022)
Published in Nature communications (29.09.2022)
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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype
Takenouchi, Toshiki, Miura, Kiyokuni, Uehara, Tomoko, Mizuno, Seiji, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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