Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Sekiguchi, Futoshi; Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Teik, Keng Wee; Mizuno, Seiji; Suzumura, Hiroshi; Isidor, Bertrand; Ong, Winnie Peitee; Haniffa, Muzhirah; White, Susan M.; Matsuo, Mari; Saito, Kayoko; Phadke, Shubha; Kosho, Tomoki; Yap, Patrick; Goyal, Manisha; Clarke, Lorne A.; Sachdev, Rani; McGillivray, George; Leventer, Richard J.; Patel, Chirag; Yamagata, Takanori; Osaka, Hitoshi; Hisaeda, Yoshiya; Ohashi, Hirofumi; Shimizu, Kenji; Nagasaki, Keisuke; Hamada, Junpei; Dateki, Sumito; Sato, Takashi; Chinen, Yasutsugu; Awaya, Tomonari; Kato, Takeo; Iwanaga, Kougoro; Kawai, Masahiko; Matsuoka, Takashi; Shimoji, Yoshikazu; Tan, Tiong Yang; Kapoor, Seema; Gregersen, Nerine; Rossi, Massimiliano; Marie-Laure, Mathieu; McGregor, Lesley; Oishi, Kimihiko; Mehta, Lakshmi; Gillies, Greta; Lockhart, Paul J.; Pope, Kate; Shukla, Anju; Girisha, Katta Mohan; Abdel-Salam, Ghada M. H.; Mowat, David; Coman, David; Kim, Ok Hwa; Cordier, Marie-Pierre; Gibson, Kate; Milunsky, Jeff; Liebelt, Jan; Cox, Helen; El Chehadeh, Salima; Toutain, Annick; Saida, Ken; Aoi, Hiromi; Minase, Gaku; Tsuchida, Naomi; Iwama, Kazuhiro; Uchiyama, Yuri; Suzuki, Toshifumi; Hamanaka, Kohei; Azuma, Yoshiteru; Fujita, Atsushi; Imagawa, Eri; Koshimizu, Eriko; Takata, Atsushi; Mitsuhashi, Satomi; Miyatake, Satoko; Mizuguchi, Takeshi; Miyake, Noriko; Matsumoto, Naomichi

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Hitoshi Osaka
Sekiguchi et al., 2019

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Springer Nature [academic journals on nature.com], Journal of Human Genetics, 12(64), p. 1173-1186, 2019

DOI: 10.1038/s10038-019-0667-4

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@article{Sekiguchi2019,
  author = {Sekiguchi, Futoshi and Tsurusaki, Yoshinori and Okamoto, Nobuhiko and Teik, Keng Wee and Mizuno, Seiji and Suzumura, Hiroshi and Isidor, Bertrand and Ong, Winnie Peitee and Haniffa, Muzhirah and White, Susan M. and Matsuo, Mari and Saito, Kayoko and Phadke, Shubha and Kosho, Tomoki and Yap, Patrick and Goyal, Manisha and Clarke, Lorne A. and Sachdev, Rani and McGillivray, George and Leventer, Richard J. and Patel, Chirag and Yamagata, Takanori and Osaka, Hitoshi and Hisaeda, Yoshiya and Ohashi, Hirofumi and Shimizu, Kenji and Nagasaki, Keisuke and Hamada, Junpei and Dateki, Sumito and Sato, Takashi and Chinen, Yasutsugu and Awaya, Tomonari and Kato, Takeo and Iwanaga, Kougoro and Kawai, Masahiko and Matsuoka, Takashi and Shimoji, Yoshikazu and Tan, Tiong Yang and Kapoor, Seema and Gregersen, Nerine and Rossi, Massimiliano and Marie-Laure, Mathieu and McGregor, Lesley and Oishi, Kimihiko and Mehta, Lakshmi and Gillies, Greta and Lockhart, Paul J. and Pope, Kate and Shukla, Anju and Girisha, Katta Mohan and Abdel-Salam, Ghada M. H. and Mowat, David and Coman, David and Kim, Ok Hwa and Cordier, Marie-Pierre and Gibson, Kate and Milunsky, Jeff and Liebelt, Jan and Cox, Helen and El Chehadeh, Salima and Toutain, Annick and Saida, Ken and Aoi, Hiromi and Minase, Gaku and Tsuchida, Naomi and Iwama, Kazuhiro and Uchiyama, Yuri and Suzuki, Toshifumi and Hamanaka, Kohei and Azuma, Yoshiteru and Fujita, Atsushi and Imagawa, Eri and Koshimizu, Eriko and Takata, Atsushi and Mitsuhashi, Satomi and Miyatake, Satoko and Mizuguchi, Takeshi and Miyake, Noriko and Matsumoto, Naomichi},
  doi = {10.1038/s10038-019-0667-4},
  journal = {Journal of Human Genetics},
  month = {sep},
  pages = {1173-1186},
  title = {Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients},
  url = {http://www.nature.com/articles/s10038-019-0667-4.pdf},
  volume = {64},
  year = {2019}
}

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