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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. & 30 others, 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 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.

Research output: Contribution to journalComment/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 Jul 1, In : Journal of Human Genetics. 64, 7, p. 701-702 2 p.

Research output: Contribution to journalComment/debate

Open Access
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 Mar, In : Journal of Dermatology. 45, 3, p. 363-364 2 p.

Research output: Contribution to journalComment/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 Dec 1, In : Scientific Reports. 8, 1, 10367.

Research output: Contribution to journalComment/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 Jan 1, In : Molecular Genetics and Metabolism. 116, 4, p. 223-225 3 p.

Research output: Contribution to journalComment/debate

34 Citations (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. & 92 others, 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, In : Asian Pacific Journal of Cancer Prevention. 8, 2, p. 317-323 7 p.

Research output: Contribution to journalComment/debate

148 Citations (Scopus)