• Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, Heymach J, Kaftan E, Townsend JP, Lynch TJ, Schlessinger J, Lee J, Lifton RP, Wistuba II, Herbst RS. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Ann Oncol. 2017 Jan 1;28(1):75-82. doi: 10.1093/annonc/mdw436. [link]


  • Ko JM, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations Variable Severity in Psychomotor Development and Musculoskeletal Manifestation. J Child Neurol. 2016. Oct 24. pii: 0883073816674095. [Epub ahead of print] [link]
  • Lee JS*, Yoo Y*, Lim BC, Kim KJ, Song J, Choi M, Chae JH. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
    Am J Med Genet A. 2016 May 27. doi: 10.1002/ajmg.a.37773. [Epub ahead of print] [linkContributed equally to this work as the first author.
  • Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes.Clin Genet. 2016 Jun;89(6):728-32. doi: 10.1111/cge.12698. Epub 2016 Jan 19.[link]


  • Shirane S, Araki M, Morishita S, Edahiro Y, Takei H, Yoo Y, Choi M, Sunami Y, Hironaka Y, Noguchi M, Koike M, Noda N, Ohsaka A, Komatsu N. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 2015 Feb;100(2):e46-8.  [link]
  • Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. J Hum Genet. 2015 Apr;60(4):213-5. [link]