• 2494 Citations
  • 26 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 Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Nephrotic Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
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

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
2 Citations

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Rinschen, M. M., Gödel, M., Grahammer, F., Zschiedrich, S., Helmstädter, M., Kretz, O., Zarei, M., Braun, D. A., Dittrich, S., Pahmeyer, C., Schroder, P., Teetzen, C., Gee, H. Y., Daouk, G., Pohl, M., Kuhn, E., Schermer, B., Küttner, V., Boerries, M., Busch, H. & 7 othersSchiffer, M., Bergmann, C., Krüger, M., Hildebrandt, F., Dengjel, J., Benzing, T. & Huber, T. B., 2018 May 22, In : Cell Reports. 23, 8, p. 2495-2508 14 p.

Research output: Contribution to journalArticle

Podocytes
Atlases
Kidney Diseases
Genes
Cell culture
3 Citations

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

Tan, W., Lovric, S., Ashraf, S., Rao, J., Schapiro, D., Airik, M., Shril, S., Gee, H. Y., Baum, M., Daouk, G., Ferguson, M. A., Rodig, N., Somers, M. J. G., Stein, D. R., Vivante, A., Warejko, J. K., Widmeier, E. & Hildebrandt, F., 2018 Feb 1, In : Pediatric Nephrology. 33, 2, p. 305-314 10 p.

Research output: Contribution to journalArticle

Nephrotic Syndrome
Steroids
Mutation
Genes
Dominant Genes

A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma

Kim, I., Kang, J., Gee, H. Y. & Park, J. W., 2018 Mar 1, In : Cell Biology International. 42, 3, p. 303-312 10 p.

Research output: Contribution to journalArticle

Ankyrin Repeat
Hypoxia-Inducible Factor 1
Hepatocellular Carcinoma
Asparagine
Hydroxylation