Murim Choi

Associate Professor

  • 11611 Citations
  • 41 h-Index
20002019
If you made any changes in Pure, your changes will be visible here soon.

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

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Hyperaldosteronism Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Aldosterone Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2000 2019

  • 11611 Citations
  • 41 h-Index
  • 104 Article
  • 4 Comment/debate
  • 4 Letter
  • 3 Review article
Megalencephaly
document markup languages
HTML
mutations
Language

The Korean undiagnosed diseases program: Lessons from a one-year pilot project

Kim, S. Y., Lim, B. C., Lee, J. S., Kim, W. J., Kim, H., Ko, J. M., Kim, K., Choi, S. A., Kim, H., Hwang, H., Choi, J., Cho, A., Moon, J., Seong, M-W., Park, S. S., Lee, Y. J., Kim, Y. O., Kim, J. S., Kim, W. S., Kwon, Y. S. & 7 others, Park, J. D., Ahn, Y., Hwang, J. Y., Park, H. Y., Lee, Y., Choi, M. & Chae, J. H., 20 Mar 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 68.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
Rare Diseases
Workflow
Molecular Biology
Exome
Process Assessment (Health Care)

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadke, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M. R. & 15 others, Stewart, G. S., Jung, E., Lee, M. S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O. H., Choi, M., Lee, H. W., Kim, Y. & Cho, T-J., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 439-453 15 p.

Research output: Contribution to journalArticleResearchpeer-review

Exome
DNA Replication
DNA Repair
Computer Simulation
Embryonic Development
1 Citation (Scopus)

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome

Hong, C. R., Lee, S., Hong, K. T., Choi, J. Y., Shin, H. Y., Choi, M. & Kang, H. J., 1 Mar 2019, In : Journal of Allergy and Clinical Immunology: In Practice. 7, 3, p. 1034-1037.e1

Research output: Contribution to journalArticleResearchpeer-review

1-Phosphatidylinositol 4-Kinase
Cyclophosphamide
Transplantation
Transplants
2 Citations (Scopus)

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A. & 59 others, Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faive, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 1 Dec 2018, In : Nature Communications. 9, 1, 4619.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
Megalencephaly
mutations
Chromatin
Chromatin Assembly and Disassembly
Adenosine Triphosphatases