Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Published in Nature medicine (01.03.2023)
Published in Nature medicine (01.03.2023)
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Further delineation of SET‐related intellectual disability syndrome
Shono, Kenta, Enomoto, Yumi, Tsurusaki, Yoshinori, Kumaki, Tatsuro, Masuno, Mitsuo, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Takahashi, Yuji, Date, Hidetoshi, Oi, Hideki, Adachi, Takeya, Imanishi, Noriaki, Kimura, En, Takizawa, Hotake, Kosugi, Shinji, Matsumoto, Naomichi, Kosaki, Kenjiro, Matsubara, Yoichi, Ando, Yukio, Anzai, Toshihisa, Ariga, Tadashi, Fukushima, Yoshimitsu, Furusawa, Yoshihiko, Ganaha, Akira, Goto, Yuichi, Hata, Kenichiro, Honda, Masataka, Iijima, Kazumoto, Ikka, Tsunakuni, Imoto, Issei, Kaname, Tadashi, Kobayashi, Masao, Kojima, Seiji, Kurahashi, Hiroki, Kure, Shigeo, Kurosawa, Kenji, Maegaki, Yoshihiro, Makita, Yoshio, Morio, Tomohiro, Narita, Ichiei, Nomura, Fumio, Ogata, Tsutomu, Ozono, Keiichi, Oka, Akira, Okamoto, Nobuhiko, Saitoh, Shinji, Sakurai, Akihiro, Takada, Fumio, Takahashi, Tsutomu, Tamaoka, Akira, Umezawa, Akihiro, Yachie, Akihiro, Yoshiura, Kouichiro, Chinen, Yasutsugu, Eguchi, Mariko, Fujio, Keishi, Hosoda, Kiminori, Ichikawa, Tomohiko, Kawarai, Toshitaka, Kosho, Tomoki, Masuno, Mitsuo, Nakamura, Akie, Nakane, Takaya, Ogi, Tomoo, Okada, Satoshi, Sakata, Yasushi, Seto, Toshiyuki, Takahashi, Yoshiyuki, Takano, Tadao, Ueda, Mitsuharu, Yagasaki, Hideaki, Yamamoto, Toshiyuki, Watanabe, Atsushi, Hotta, Yoshihiro, Kubo, Akiharu, Maruyama, Hirofumi, Moriyama, Keiji, Nanba, Eiji, Sakai, Norio, Sekijima, Yoshiki, Shimosegawa, Toru, Takeuchi, Tsutomu, Usami, Shinichi, Yamamoto, Kazuhiko, Mizusawa, Hidehiro
Published in Journal of human genetics (01.09.2022)
Published in Journal of human genetics (01.09.2022)
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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
Sofronova, Viktoriia, Fukushima, Yu, Masuno, Mitsuo, Naka, Mami, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Moriwaki, Takahito, Iwata, Rina, Terawaki, Seigo, Yamanouchi, Yasuko, Otomo, Takanobu
Published in Human genome variation (25.07.2022)
Published in Human genome variation (25.07.2022)
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Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13
Tominaga, Makiko, Saito, Toshiyuki, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji
Published in Congenital anomalies (01.03.2020)
Published in Congenital anomalies (01.03.2020)
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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
Tominaga, Makiko, Hamanoue, Satoshi, Goto, Hiroaki, Saito, Toshiyuki, Nagai, Jun-ichi, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji
Published in Human genome variation (08.08.2019)
Published in Human genome variation (08.08.2019)
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Novel USP9X variants in two patients with X-linked intellectual disability
Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
Published in Human genome variation (21.10.2019)
Published in Human genome variation (21.10.2019)
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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
Moriwaki, Takahito, Masuno, Mitsuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Takao, Kayo, Tawa, Kazumi, Yamanouchi, Yasuko, Miki, Atsushi, Otomo, Takanobu
Published in Human genome variation (16.10.2023)
Published in Human genome variation (16.10.2023)
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Trends in occurrence of twin births in Japan
Kurosawa, Kenji, Masuno, Mitsuo, Kuroki, Yoshikazu
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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Home-based subcutaneous immunoglobulin after switch from intravenous immunoglobulin improved quality of life in pediatric patient with common variable immunodeficiency A case report
Koujiro MITSUI, Hideto TERANISHI, Mitsuo MASUNO, Sahoko ONO, Eisuke KONDO, Ippei MIYATA, Tomohiro OISHI, Kazunobu OUCHI
Published in KAWASAKI MEDICAL JOURNAL (2020)
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Published in KAWASAKI MEDICAL JOURNAL (2020)
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Case reports of pregnancies complicated with kidney disease and their fetal prognosis
Mika SUGIHARA, Wataru SAITOU, Ryo MATSUMOTO, Soichiro SUZUKI, Keiko MATSUMOTO, Tamaki TANAKA, Rikiya SANO, Tsuyoshi ISHIDA, Yoshiaki OTA, Yuichiro NAKAI, Takafumi NAKAMURA, Mitsuru SHIOTA, Yutaka KAWAMOTO, Tamaki SASAKI, Naoki KASHIHARA, Mitsuo MASUNO, Kouichirou SHIMOYA
Published in KAWASAKI MEDICAL JOURNAL (2021)
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Published in KAWASAKI MEDICAL JOURNAL (2021)
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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
KUBOTA, T, NONOYAMA, S, TONOKI, H, MASUNO, M, IMAIZUMI, K, KOJIMA, M, WAKUI, K, SHIMADZU, M, FUKUSHIMA, Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene
Masuno, Mitsuo, Watanabe, Atsushi, Naing, Banyar Than, Shimada, Takashi, Fujimoto, Wataru, Ninomiya, Shinsuke, Ueda, Yasunori, Kadota, Kazushige, Kotaka, Tatsuya, Kondo, Eisei, Yamanouchi, Yasuko, Inoue, Mika, Ouchi, Kazunobu, Kuroki, Yoshikazu
Published in Congenital anomalies (01.12.2012)
Published in Congenital anomalies (01.12.2012)
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Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature
Yamamoto, Kayono, Yoshihashi, Hiroshi, Furuya, Noritaka, Adachi, Masanori, Ito, Susumu, Tanaka, Yukichi, Masuno, Mitsuo, Chiyo, Hideaki, Kurosawa, Kenji
Published in Congenital anomalies (01.03.2009)
Published in Congenital anomalies (01.03.2009)
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Long-term survival with RAS-associated autoimmune leukoproliferative disorder with somatic KRAS mutation : A case report
Hideto TERANISHI, Shoko WAKABAYASHI, Mina KONO, Sahoko ONO, Atsushi KATO, Eisuke KONDO, Hiroto AKAIKE, Ippei MIYATA, Satoko OGITA, Naoki OHNO, Tomohiro OISHI, Mitsuo MASUNO, Kazunobu OUCHI
Published in KAWASAKI MEDICAL JOURNAL (2019)
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Published in KAWASAKI MEDICAL JOURNAL (2019)
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
Gibbons, Richard J, Bachoo, Satvinder, Picketts, David J, Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A, Dahl, Niklas, Fryer, Alan, Keppler, Kim, Kurosawa, Kenji, Levin, Michael L, Masuno, Mitsuo, Neri, Giovanni, Pierpont, Mary Ella, Slaney, Sarah F, Higgs, Douglas R
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
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Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia
Kurosawa, Kenji, Enomoto, Keisuke, Tominaga, Makiko, Furuya, Noritaka, Sameshima, Kiyoko, Iai, Mizue, Take, Hiroshi, Shinkai, Masato, Ishikawa, Hiroshi, Yamanaka, Michiko, Matsui, Kiyoshi, Masuno, Mitsuo
Published in Congenital anomalies (01.06.2012)
Published in Congenital anomalies (01.06.2012)
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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Kurosawa, Kenji, Kawame, Hiroshi, Okamoto, Nobuhiko, Ochiai, Yukikatsu, Akatsuka, Akira, Kobayashi, Masahisa, Shimohira, Masayuki, Mizuno, Seiji, Wada, Kazuko, Fukushima, Yoshimitsu, Kawawaki, Hisashi, Yamamoto, Toshiyuki, Masuno, Mitsuo, Imaizumi, Kiyoshi, Kuroki, Yoshikazu
Published in Brain & development (Tokyo. 1979) (01.08.2005)
Published in Brain & development (Tokyo. 1979) (01.08.2005)
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