• 3447 Citations
  • 32 h-Index
20092020

Research output per year

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Personal profile

Research Interests

Medical Genetics

Next-generation sequencing

Diseases

Organoids

Research Interests

Medical Genetics

Next-generation sequencing

Diseases

Organoids

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Research Output

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

Widmeier, E., Yu, S., Nag, A., Chung, Y. W., Nakayama, M., Fernández-Del-Río, L., Hugo, H., Schapiro, D., Buerger, F., Choi, W. I., Helmstädter, M., Kim, J. W., Ryu, J. H., Lee, M. G., Clarke, C. F., Hildebrandt, F. & Gee, H. Y., 2020 Jun 1, In : Journal of the American Society of Nephrology : JASN. 31, 6, p. 1191-1211 21 p.

Research output: Contribution to journalArticle

  • Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation

    Song, M. H., Jung, J., Rim, J. H., Choi, H. J., Lee, H. J., Noh, B., Lee, J. S., Gee, H. Y. & Choi, J. Y., 2020 Jan 1, (Accepted/In press) In : Ear and Hearing. p. 114-124 11 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)
    Open Access
  • Grasp55 −/− mice display impaired fat absorption and resistance to high-fat diet-induced obesity

    Kim, J., Kim, H., Noh, S. H., Jang, D. G., Park, S. Y., Min, D., Kim, H., Kweon, H. S., Kim, H., Aum, S., Seo, S., Choi, C. S., Kim, H., Kim, J. W., Moon, S. J., Gee, H. Y. & Lee, M. G., 2020 Dec 1, In : Nature communications. 11, 1, 1418.

    Research output: Contribution to journalArticle

    Open Access
  • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review

    Park, J. H., Lee, K. H., Jeon, B., Ochs, H. D., Lee, J. S., Gee, H. Y., Seo, S., Geum, D., Piccirillo, C. A., Eisenhut, M., van der Vliet, H. J., Lee, J. M., Kronbichler, A., Ko, Y. & Shin, J. I., 2020 Jun, In : Autoimmunity Reviews. 19, 6, 102526.

    Research output: Contribution to journalReview article