Research Output per year
Research Output per year
Personal profile
Education/Academic qualification
MS, Genetics, University of Pittsburgh
… → 1998
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Dive into the research topics where Katherine H Kim is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
Garzon, J. P., Patete, A., Aschbacher-Smith, L., Qu'd, D., Kelly-Mancuso, G., Raski, C. R., Weisman, A. G., Hankins, M., Sawin, M., Kim, K., Drackley, A., Zeid, J., Weaver, K. N., Hopkin, R. J., Saal, H. M., Charrow, J., Schorry, E., Listernick, R., Simpson, B. N. & Prada, C. E., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease
Rasmussen, C. A., Quadri, A., Vucko, E., Kim, K., Hickey, R., Baker, J. J., Charrow, J. & Prada, C. E., Jan 2024, In: Molecular Genetics and Metabolism. 141, 1, 107736.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H. & Sheppard, S. E. & 29 others, , Jan 12 2023, In: Human Genetics and Genomics Advances. 4, 1, 100157.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy
Kim, K. H., Desai, A. K., Vucko, E. R., Boggs, T., Kishnani, P. S. & Burton, B. K., Sep 2023, In: Molecular Genetics and Metabolism Reports. 36, 100981.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
Birnbaum, R., Ezer, S., Lotan, N. S., Eilat, A., Sternlicht, K., Benyamini, L., Reish, O., Falik-Zaccai, T., Ben-Gad, G., Rod, R., Segel, R., Kim, K., Burton, B., Keegan, C. E., Wagner, M., Henderson, L. B., Mor, N., Barel, O., Hirsch, Y. & Meiner, V. & 3 others, , Oct 13 2023, In: Journal of medical genetics. 61, 3, p. 289-293 5 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations