• 2821 Citations
  • 28 h-Index
20092019
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Personal profile

Research Interests

Medical Genetics

Next-generation sequencing

Diseases

Organoids

Research Interests

Medical Genetics

Next-generation sequencing

Diseases

Organoids

Fingerprint Dive into the research topics where Heon Yung Gee is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Nephrotic Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
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Podocytes Medicine & Life Sciences
Steroids Medicine & Life Sciences
Kidney Medicine & Life Sciences

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Research Output 2009 2019

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 1, In : European Journal of Medical Genetics. 62, 1, p. 81-84 4 p.

Research output: Contribution to journalArticle

Hearing Loss
Mutation
Exome
Genes
Alleles

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 1, In : Human mutation. 40, 3, p. 335-346 12 p.

Research output: Contribution to journalArticle

Mutation
Mutant Proteins
Voltage-Gated Potassium Channels
Exome
Missense Mutation
1 Citation (Scopus)

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

Nephrolithiasis
Mutation
Genes
Pakistan
Recessive Genes
2 Citations (Scopus)

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

Choi, Y. J., Halbritter, J., Braun, D. A., Schueler, M., Schapiro, D., Rim, J. H., Nandadasa, S., Choi, W. I., Widmeier, E., Shril, S., Körber, F., Sethi, S. K., Lifton, R. P., Beck, B. B., Apte, S. S., Gee, H. Y. & Hildebrandt, F., 2019 Jan 3, In : American Journal of Human Genetics. 104, 1, p. 45-54 10 p.

Research output: Contribution to journalArticle

Mutation
Cilia
Basal Bodies
Exome
Hedgehogs
1 Citation (Scopus)

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

Schapiro, D., Daga, A., Lawson, J. A., Majmundar, A. J., Lovric, S., Tan, W., Warejko, J. K., Fessi, I., Rao, J., Airik, M., Gee, H. Y., Schneider, R., Widmeier, E., Hermle, T., Ashraf, S., Jobst-Schwan, T., Van Der Ven, A. T., Nakayama, M., Shril, S., Braun, D. A. & 1 others, Hildebrandt, F., 2019 Mar 1, In : Nephrology Dialysis Transplantation. 34, 3, p. 474-485 12 p.

Research output: Contribution to journalArticle

Nephrosis
Hereditary Nephritis
Nephritis
Hematuria
Proteinuria