論文 - 荻 朋男
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Whole Exome Sequencing Contributes to Genetic Diagnosis of IBMFS Patients
Muramatsu Hideki, Hamada Motoharu, Okuno Yusuke, Wakamatsu Manabu, Taniguchi Rieko, Narita Koutarou, Kawashima Nozomu, Kitazawa Hironobu, Ichikawa Daisuke, Nishikawa Eri, Kawashima Nazomu, Narita Atsushi, Nishio Nobuhiro, Kojima Seiji, Ogi Tomoo, Takahashi Yoshiyuki
PEDIATRIC BLOOD & CANCER 66 巻 頁： S63-S64 2019年12月
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Comprehensive Mutational Analysis of Juvenile Myelomonocytic Leukemia Using Whole-Genome Sequencing
Okuno Yusuke, Muramatsu Hideki, Murakami Norihiro, Kawashima Nozomu, Wakamatsu Manabu, Kitazawa Hironobu, Ogi Tomoo, Takahashi Yoshiyuki
BLOOD 134 巻 2019年11月
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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S
Journal of medical genetics 2019年11月
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
Takeichi T., Matsumoto T., Nomura T., Takeda M., Niwa H., Kono M., Shimizu H., Ogi T., Akiyama M.
BRITISH JOURNAL OF DERMATOLOGY 2019年10月
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Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation. 査読有り 国際誌
Kono M, Kodera M, Inasaka Y, Hasegawa I, Muro Y, Nakazawa Y, Ogi T, Akiyama M
European journal of dermatology : EJD in press 巻 2019年8月
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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
Thei Arjan F., Botta Elena, Raams Anja, Smith Desiree E. C., Mendes Marisa I, Caligiuri Giuseppina, Giachetti Sarah, Bione Silvia, Carriero Roberta, Liberi Giordano, Zardoni Luca, Swagemakers Sigrid M. A., Salomons Gajja S., Sarasin Alain, Lehmann Alan, van der Spek Peter J., Ogi Tomoo, Hoeijmakers Jan H. J., Vermeulen Wim, orioli Donata
AMERICAN JOURNAL OF HUMAN GENETICS 105 巻 ( 2 ) 頁： 434-440 2019年8月
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Unravelling the pivotal role of DDA1 in transcription-coupled nucleotide excision repair
Pines A., Guo C., Akita M., Theil A., Quist B., Wienholz F., Marteijn J., Demmers J., van Attikum H., Vertegaal A., Vermeulen M., Ogi T., Vermeulen W.
BRITISH JOURNAL OF DERMATOLOGY 180 巻 ( 6 ) 頁： E230 - E230 2019年6月
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Unravelling the pivotal role of DDA1 in transcription-coupled nucleotide excision repair
Pines A, Guo C, Akita M, Theil A, Quist B, Wienholz F, Marteijn J, Demmers J, van Attikum H, Vertegaal A, Vermeulen M, Ogi T, Vermeulen W
BRITISH JOURNAL OF DERMATOLOGY 180 巻 ( 6 ) 頁： E230-E230 2019年6月
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Shiraiwa K, Matsuse M, Nakazawa Y, Ogi T, Suzuki K, Saenko V, Xu S, Umezawa K, Yamashita S, Tsukamoto K, Mitsutake N
Thyroid : official journal of the American Thyroid Association 29 巻 ( 5 ) 頁： 674 - 682 2019年5月
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A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation
Kono Michihiro, Sawada Masaki, Nakazawa Yuka, Ogi Tomoo, Muro Yoshinao, Akiyama Masashi
ACTA DERMATO-VENEREOLOGICA 99 巻 ( 4 ) 頁： 458-459 2019年4月
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Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
Marin Maria, Jose Ramirez Maria, Carmona Miriam Aza, Jia Nan, Ogi Tomoo, Bogliolo Massimo, Surralles Jordi
GENES 10 巻 ( 1 ) 2019年1月
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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
Calmels Nadege, Botta Elena, Jia Nan, Fawcett Heather, Nardo Tiziana, Nakazawa Yuka, Lanzafame Manuela, Moriwaki Shinichi, Sugita Katsuo, Kubota Masaya, Obringer Cathy, Spitz Marie-Aude, Stefanini Miria, Laugel Vincent, Orioli Donata, Ogi Tomoo, Lehmann Alan Robert
JOURNAL OF MEDICAL GENETICS 55 巻 ( 5 ) 頁： 329-343 2018年5月
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An adolescent case of xeroderma pigmentosum variant confirmed by the onset of sun exposure-related skin cancer during Crohn's disease treatment
Terada Aoi, Aoshima Masahiro, Tanizaki Hideaki, Nakazawa Yuka, Ogi Tomoo, Tokura Yoshiki, Moriwaki Shinichi
JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY 1 巻 ( 1 ) 頁： 23-26 2018年4月
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Whole exome sequencing of 14 schizophrenia multiplex families in Japan
Toyama Miho, Takasaki Yuto, Aleksic Branko, Ogi Tomoo, Ozaki Norio
HUMAN GENOMICS 12 巻 頁： . 2018年3月
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Whole exome sequencing of 14 schizophrenia multiplex families in Japan 査読有り
Toyama Miho, Takasaki Yuto, Aleksic Branko, Ogi Tomoo, Ozaki Norio
HUMAN GENOMICS 12 巻 2018年3月
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Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites
Yasuda Takeshi, Kagawa Wataru, Ogi Tomoo, Kato Takamitsu A., Suzuki Takehiro, Dohmae Naoshi, Takizawa Kazuya, Nakazawa Yuka, Genet Matthew D., Saotome Mika, Hama Michio, Konishi Teruaki, Nakajima Nakako Izumi, Hazawa Masaharu, Tomita Masanori, Koike Manabu, Noshiro Katsuko, Tomiyama Kenichi, Obara Chizuka, Gotoh Takaya, Ui Ayako, Fujimori Akira, Nakayama Fumiaki, Hanaoka Fumio, Sugasawa Kaoru, Okayasu Ryuichi, Jeggo Penny A., Tajima Katsushi
PLOS GENETICS 14 巻 ( 3 ) 頁： e1007277 2018年3月
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Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F
Journal of human genetics 2018年2月
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Guo C.
DNA Repair Disorders 頁： 25-40 2018年1月
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Niida H, Matsunuma R, Horiguchi R, Uchida C, Nakazawa Y, Motegi A, Nishimoto K, Sakai S, Ohhata T, Kitagawa K, Moriwaki S, Nishitani H, Ui A, Ogi T, Kitagawa M
Nature communications 9 巻 頁： 16214 - 16214 2018年
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Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways
Okuda Masahiko, Nakazawa Yuka, Guo Chaowan, Ogi Tomoo, Nishimura Yoshifumi
NUCLEIC ACIDS RESEARCH 45 巻 ( 22 ) 頁： 13043-13055 2017年12月