• 3254 Citations
  • 31 h-Index
20092019

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

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction

Yu, S., Choi, H. J., Lee, J. S., Lee, H. J., Rim, J. H., Choi, J. Y., Gee, H. Y. & Jung, J., 2019 Jan, In : European Journal of Medical Genetics. 62, 1, p. 81-84 4 p.

Research output: Contribution to journalArticle

  • 3 Citations (Scopus)

    A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators

    Shin, D. H., Jung, J., Koh, Y. I., Rim, J. H., Lee, J. S., Choi, H. J., Joo, S. Y., Yu, S., Cha, D. H., Lee, S. Y., Lee, J. H., Lee, M. G., Choi, J. Y. & Gee, H. Y., 2019 Mar, In : Human mutation. 40, 3, p. 335-346 12 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)

    Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

    Cha, D. H., Gee, H. Y., Cachau, R., Choi, J. M., Park, D., Jee, S. H., Ryu, S., Kim, K. K., Won, H. H., Limou, S., Myung, W., Winkler, C. A. & Cho, S. K., 2019 Dec 1, In : Scientific reports. 9, 1, 14360.

    Research output: Contribution to journalArticle

    Open Access
  • Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

    Amar, A., Majmundar, A. J., Ullah, I., Afzal, A., Braun, D. A., Shril, S., Daga, A., Jobst-Schwan, T., Ahmad, M., Sayer, J. A., Gee, H. Y., Halbritter, J., Knöpfel, T., Hernando, N., Werner, A., Wagner, C., Khaliq, S. & Hildebrandt, F., 2019 Jan 1, In : Human Genetics.

    Research output: Contribution to journalArticle

  • 3 Citations (Scopus)

    Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

    Solanki, A. K., Widmeier, E., Arif, E., Sharma, S., Daga, A., Srivastava, P., Kwon, S. H., Hugo, H., Nakayama, M., Mann, N., Majmundar, A. J., Tan, W., Gee, H. Y., Sadowski, C. E., Rinat, C., Becker-Cohen, R., Bergmann, C., Rosen, S., Somers, M., Shril, S. & 4 others, Huber, T. B., Mane, S., Hildebrandt, F. & Nihalani, D., 2019 Oct, In : Kidney International. 96, 4, p. 883-889 7 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)