Research Output

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Review article
2019

Medical genetics and genomic medicine in Japan

Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 Jun, In : American Journal of Medical Genetics, Part A. 179, 6, p. 896-899 4 p.

Research output: Contribution to journalReview article

Open Access
1 Citation (Scopus)
2012

Governance and measures for the ethical and social aspects of biobanks

Iwae, S. & Masui, T., 2012 Apr, In : Japanese Journal of Cancer and Chemotherapy. 39, 4, p. 493-497 5 p.

Research output: Contribution to journalReview article

2011

Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research

Kosaki, K., 2011 Mar 1, In : Congenital anomalies. 51, 1, p. 12-15 4 p.

Research output: Contribution to journalReview article

7 Citations (Scopus)
2010

International network of cancer genome projects

Hudson, T. J., Anderson, W., Aretz, A., Barker, A. D., Bell, C., Bernabé, R. R., Bhan, M. K., Calvo, F., Eerola, I., Gerhard, D. S., Guttmacher, A., Guyer, M., Hemsley, F. M., Jennings, J. L., Kerr, D., Klatt, P., Kolar, P., Kusuda, J., Lane, D. P., Laplace, F. & 241 others, Lu, Y., Nettekoven, G., Ozenberger, B., Peterson, J., Rao, T. S., Remacle, J., Schafer, A. J., Shibata, T., Stratton, M. R., Vockley, J. G., Watanabe, K., Yang, H., Yuen, M. M. F., Knoppers, B. M., Bobrow, M., Cambon-Thomsen, A., Dressler, L. G., Dyke, S. O. M., Joly, Y., Kato, K., Kennedy, K. L., Nicolás, P., Parker, M. J., Rial-Sebbag, E., Romeo-Casabona, C. M., Shaw, K. M., Wallace, S., Wiesner, G. L., Zeps, N., Lichter, P., Biankin, A. V., Chabannon, C., Chin, L., Clément, B., Alava, E. D., Degos, F., Ferguson, M. L., Geary, P., Hayes, D. N., Johns, A. L., Kasprzyk, A., Nakagawa, H., Penny, R., Piris, M. A., Sarin, R., Scarpa, A., De Vijver, M. V., Futreal, P. A., Aburatani, H., Bayés, M., Bowtell, D. D. L., Campbel, P. J., Estivill, X., Grimmond, S. M., Gut, I., Hirst, M., López-Otý́n, C., Majumder, P., Marra, M., McPherson, J. D., Ning, Z., Puente, X. S., Ruan, Y., Stunnenberg, H. G., Swerdlow, H., Velculescu, V. E., Wilson, R. K., Xue, H. H., Yang, L., Spellman, P. T., Bader, G. D., Boutros, P. C., Flicek, P., Getz, G., Guigó, R., Guo, G., Haussler, D., Heath, S., Hubbard, T. J., Jiang, T., Jones, S. M., Li, Q., López-Bigas, N., Luo, R., Muthuswamy, L., Ouellette, B. F. F., Pearson, J. V., Quesada, V., Raphael, B. J., Sander, C., Speed, T. P., Stein, L. D., Stuart, J. M., Teague, J. W., Totoki, Y., Tsunoda, T., Valencia, A., Wheeler, D. A., Wu, H., Zhao, S., Zhou, G., Lathrop, M., Thomas, G., Yoshida, T., Axton, M., Gunter, C., Miller, L. J., Zhang, J., Haider, S. A., Wang, J., Yung, C. K., Cross, A., Liang, Y., Gnaneshan, S., Guberman, J., Hsu, J., Chalmers, D. R. C., Hasel, K. W., Kaan, T. S. H., Lowrance, W. W., Masui, T., Rodriguez, L. L., Vergely, C., Bowtel, D. D. L., Cloonan, N., DeFazio, A., Eshleman, J. R., Etemadmoghadam, D., Gardiner, B. A., Kench, J. G., Sutherland, R. L., Tempero, M. A., Waddell, N. J., Wilson, P. J., Gallinger, S., Tsao, M. S., Shaw, P. A., Petersen, G. M., Mukhopadhyay, D., DePinho, R. A., Thayer, S., Shazand, K., Beck, T., Sam, M., Timms, L., Ballin, V., Ji, J., Zhang, X., Chen, F., Hu, X., Yang, Q., Tian, G., Zhang, L., Xing, X., Li, X., Zhu, Z., Yu, Y., Yu, J., Tost, J., Brennan, P., Holcatova, I., Zaridze, D., Brazma, A., Egevad, L., Prokhortchouk, E., Banks, R. E., Uhlén, M., Viksna, J., Ponten, F., Skryabin, K., Futrea, P. A., Birney, E., Borg, A., Børresen-Dale, A. L., Caldas, C., Foekens, J. A., Martin, S., Reis-Filho, J. S., Richardson, A. L., Sotiriou, C., Veer, L. V. T., Birnbaum, D., Blanche, H., Boucher, P., Boyault, S., Masson-Jacquemier, J. D., Pauporté, I., Pivot, X., Vincent-Salomon, A., Tabone, E., Theillet, C., Treilleux, I., Bioulac-Sage, P., Decaens, T., OiseDegos, F., Franco, D., Gut, M., Samuel, D., Zucman-Rossi, J., Eils, R., Brors, B., Korbe, J. O., Korshunov, A., Landgraf, P., Lehrach, H., Pfister, S., Radlwimmer, B., Reifenberger, G., Taylor, M. D., Kalle, C. V., Majumder, P. P., Rao, T. S., Pederzoli, P., Lawlor, R. T., Delledonne, M., Bardelli, A., Gress, T., Klimstra, D., Zamboni, G., Nakamura, Y., Miyano, S., Fujimoto, A., Campo, E., Sanjosé, S. D., Montserrat, E., González-Dý́az, M., Jares, P., Himmelbaue, H., Bea, S., Aparicio, S., Easton, D. F., Collins, F. S., Compton, C. C., Lander, E. S., Burke, W., Green, A. R., Hamilton, S. R., Kallioniemi, O. P., Ley, T. J., Liu, E. T. & Wainwright, B. J., 2010 Apr 15, In : Nature. 464, 7291, p. 993-998 6 p.

Research output: Contribution to journalReview article

1325 Citations (Scopus)
2006

Russell-Silver syndrome

Kosaki, K., Izumi, K. & Hasegawa, T., 2006 Sep 28, In : Nippon rinsho. Japanese journal of clinical medicine. Suppl 3, p. 436-439 4 p.

Research output: Contribution to journalReview article

Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis

Izumi, K., Jones, K. L., Kosaki, K. & Benirschke, K., 2006 Sep 1, In : Fetal and Pediatric Pathology. 25, 5, p. 233-240 8 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)
2005

DHPLC in clinical molecular diagnostic services

Kosaki, K., Udaka, T. & Okuyama, T., 2005 Jan 1, In : Molecular Genetics and Metabolism. 86, 1-2, p. 117-123 7 p.

Research output: Contribution to journalReview article

36 Citations (Scopus)

Molecular diagnosis of multiple malformation syndrome

Torii, C. & Kosaki, K., 2005 Dec, In : Nippon rinsho. Japanese journal of clinical medicine. 63 Suppl 12, p. 431-436 6 p.

Research output: Contribution to journalReview article

2003
Open Access
4 Citations (Scopus)
2001

Dermal hypoplasia, focal

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 33, p. 545-547 3 p.

Research output: Contribution to journalReview article

Dwarfism (short limbed)--Peters anomaly of the eye

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 33, p. 574-575 2 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

Jarcho-Levin syndrome

Kosaki, K., 2001, In : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 681-682 2 p.

Research output: Contribution to journalReview article

Silver-Russell syndrome

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 635-637 3 p.

Research output: Contribution to journalReview article

2000

Short-limb skeletal dysplasia with immunodeficiency

Kosaki, K. & Yoshihashi, H., 2000, In : Ryōikibetsu shōkōgun shirīzu. 32, p. 324-326 3 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)