医学部臨床遺伝学センター

研究成果

フィルター
Comment/debate
2020

A call for global action for rare diseases in Africa

Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. および30人, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 1 1, : : Nature genetics. 52, 1, p. 21-26 6 p.

研究成果: Comment/debate

2019

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)

Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 7 1, : : Journal of Human Genetics. 64, 7, p. 701-702 2 p.

研究成果: Comment/debate

公開
2018

Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1

Yoshida, Y., Ehara, Y., Kosaki, K. & Yamamoto, O., 2018 3, : : Journal of Dermatology. 45, 3, p. 363-364 2 p.

研究成果: Comment/debate

Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z)

Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 12 1, : : Scientific Reports. 8, 1, 10367.

研究成果: Comment/debate

2015

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Taruscio, D., Groft, S. C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A. & Gahl, W. A., 2015 1 1, : : Molecular Genetics and Metabolism. 116, 4, p. 223-225 3 p.

研究成果: Comment/debate

34 引用 (Scopus)
2007

The Japan Multi-institutional Collaborative Cohort Study (JMICC Study) to detect gene-environment interactions for cancer

Hamajima, N., Wakai, K., Naito, M., Nishio, K., Ishida, Y., Okada, R., Masui, K., Morita, E., Kuroishi, T., Cohort, C., Mikami, H., Ohira, M., Fujimoto, S., Takayama, K., Maruyama, E., Orii, Y., Sato, K., Masui, T., Matsui, K., Tamakoshi., A. および92人, Hashimoto, S., Nakachi, K., Imai, K., Eguchi, H., Takahashi, T., Okayama, A., Kurosawa, Y., Nakayama, T., Muto, K., Yamagata, Z., Asai, Y., Suzuki, M., Fukada, H., Tomoda, A., Misu, Y., Katase, S., Tokumasu, S., Kato, Y., Yoichi, M., Atsushi, K., Tajima, K., Hirose, K., Hiraki, A., Matsuo, K., Suzuki, T., Kuriki, K., Saito, T., Watanabe, M., Suzuki, S., Tokudome, S., Hosono, A., Arakawa, K., Hattori, N., Ando, R., Tanaka, T., Kitabayashi, Y., Ueshima, H., Kita, Y., Nakamura, Y., Matsui, K., Yamamoto, T., Chowdhury, T. T., Sugihara, H., Morita, Y., Tomioka, N., Watanabe, Y., Ozasa, K., Yuge, M., Hayashi, K., Shigeta, M., Mitani, S., Ozaki, E., Matsui, D., Sakazaki, T., Arisawa, K., Uemura, H., Hiyoshi, M., Sagara, Y., Kono, S., Yin, G., Nagano, J., Mizoue, T., Takayanagi, R., Ohnaka, K., Kawate, H., Adachi, M., Moore, M. A., Toyomura, K., Isomura, K., Hagiwara, T., Fukumoto, J., Nanri, A., Yamaji, T., Yoshida, D., Morita, M., Ueda, N., Maki, T., Ikeda, M., Tanaka, K., Shinchi, K., Higaki, Y., Hara, M., Sakamoto, T., Imaizumi, T., Taguchi, N., Horita, M., Takezaki, T., Niimura, H., Hirasada, K., Tatebou, M., Noriko, T. & Kus, K., 2007, : : Asian Pacific Journal of Cancer Prevention. 8, 2, p. 317-323 7 p.

研究成果: Comment/debate

148 引用 (Scopus)