논문명 Monochorionic dizygotic twins with discordant sex and confined blood chimerism
발표지 Eur J Pediatr 발표년월 2014.09
공동연구자 Lee HJ, Yoon SC, Seong MW, Park SS, Choi JS, Oh SK

논문명 Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
발표지 J Hum Genet 발표년월 2014.06
공동연구자 Cheon CK, Sohn YB, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY

논문명 Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX
발표지 Eur J Pediatr 발표년월 2013.08
공동연구자 Choi SA, Shin CH, Yang SW, Choi JS, Oh SK

논문명 An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family
발표지 Eur J Med Genet 발표년월 2013.10
공동연구자 Min BJ, Seo ME, Choi JS, Oh SK, Jeon J, Kim E, Moon JE, Choi IH, Lee C, Kim OH, Cho TJ, Park WY