Katherine H Kim

  • 844 Citations
20062019

Research output per year

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Personal profile

Education/Academic qualification

MS, University of Pittsburgh

… → 1998

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Research Output

  • 844 Citations
  • 19 Article
  • 2 Comment/debate
  • 1 Letter
  • 1 Review article

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.

Research output: Contribution to journalComment/debate

  • Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

    Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

    Research output: Contribution to journalArticle

  • GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

    Ouyang, Q., Kavanaugh, B. C., Joesch-Cohen, L., Dubois, B., Wu, Q., Schmidt, M., Baytas, O., Pastore, S. F., Harripaul, R., Mishra, S., Hussain, A., Kim, K. H., Holler-Managan, Y. F., Ayub, M., Mir, A., Vincent, J. B., Liu, J. S. & Morrow, E. M., Oct 1 2019, In : Human Genetics. 138, 10, p. 1183-1200 18 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

    Esfandiari, H., Mets, M. B., Kim, K. H. & Kurup, S. P., Nov 2 2019, In : Ophthalmic Genetics. 40, 6, p. 549-552 4 p.

    Research output: Contribution to journalArticle

  • TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.

    Research output: Contribution to journalArticle

  • 6 Scopus citations