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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Royer-Bertrand B, et al. Among authors: chae jh. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154. Sci Rep. 2015. PMID: 26598328 Free PMC article.
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Lee Y, et al. Among authors: chae jh. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.
A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population.
Lee J, Lee J, Jeon S, Lee J, Jang I, Yang JO, Park S, Lee B, Choi J, Choi BO, Gee HY, Oh J, Jang IJ, Lee S, Baek D, Koh Y, Yoon SS, Kim YJ, Chae JH, Park WY, Bhak JH, Choi M. Lee J, et al. Among authors: chae jh. Exp Mol Med. 2022 Nov;54(11):1862-1871. doi: 10.1038/s12276-022-00871-4. Epub 2022 Nov 2. Exp Mol Med. 2022. PMID: 36323850 Free PMC article.
477 results