Katherine H Kim

  • 844 Citations
20062019

Research output per year

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Research Output

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

CDKL5 and ARX mutations in males with early-onset epilepsy

Mirzaa, G. M., Paciorkowski, A. R., Marsh, E. D., Berry-Kravis, E. M., Medne, L., Alkhateeb, A., Grix, A., Wirrell, E. C., Powell, B. R., Nickels, K. C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W. B. & Das, S., Jan 1 2013, In : Pediatric neurology. 48, 5, p. 367-377 11 p.

Research output: Contribution to journalArticle

28 Scopus citations

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Bacino, A., Lee, B. H., Balasubramanyam, A., Burrage, L. C., Clark, G. D., Craigen, W. J., Dhar, S. U., Emrick, L. T. & 180 others, Graham, B. H., Jain, M., Lalani, S. R., Lewis, R. A., Moretti, P. M., Nicholas, S. K., Orange, J. S., Posey, J. E., Potocki, L., Rosenfeld, J. A., Scott, D. A., Hanchard, N. A., Alyssa, T. A., Mercedes, A. E., Mashid, A. S., Bellen, H. J., Yamamoto, S., Wangler, M. F., Westerfield, M., Postlethwait, J. H., Eng, C. M., Yang, Y., Muzny, D. M., Ward, P. A., Ramoni, R. B., McCray, A. T., Kohane, I. S., Holm, I. A., Might, M., Mazur, P., Splinter, K., Esteves, C., Shashi, V., Jiang, Y. H., Pena, L. D. M., McConkie-Rosell, A., Schoch, K., Spillmann, R. C., Sullivan, J. A., Walley, N. M., Goldstein, D. B., Stong, N., Beggs, A. H., Loscalzo, J., MacRae, C. A., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Maas, R. L., Krier, J. B., Rodan, L. H., Walsh, C. A., Cooper, C. M., Pallais, J. C., Donnell-Fink, L. A., Krieg, E. L., Lincoln, S. A., Briere, L. C., Jacob, H. J., Worthey, E. A., Lazar, J., Strong, K. A., Handley, L. H., Newberry, J. S., Bick, D. P., Schroeder, M. C., Brown, D. M., Birch, C. L., Levy, S. E., Boone, B. E., Dorset, D. C., Jones, A. L., Manolio, T. A., Mulvihill, J. J., Wise, A. L., Dayal, J. G., Eckstein, D. J., Krasnewich, D. M., Loomis, C. R., Mamounas, L. A., Iglesias, B., Martin, C., Koeller, D. M., Metz, T. O., Ashley, E. A., Fisher, P. G., Bernstein, J. A., Wheeler, M. T., Zornio, P. A., Waggott, D. M., Dries, A. M., Kohler, J. N., Dipple, K. M., Nelson, S. F., Palmer, C. G. S., Vilain, E., Allard, P., Dell Angelica, E. C., Lee, H., Sinsheimer, J. S., Papp, J. C., Dorrani, N., Herzog, M. R., Barseghyan, H., Adams, D. R., Adams, C. J., Burke, E. A., Chao, K. R., Davids, M., Draper, D. D., Estwick, T., Frisby, T. S., Frost, K., Gahl, W. A., Gartner, V., Godfrey, R. A., Goheen, M., Golas, G. A., Gordon, M. G., Groden, C. A., Gropman, A. L., Hackbarth, M. E., Hardee, I., Johnston, J. M., Koehler, A. E., Latham, L., Latour, Y. L., Lau, C. Y. C., Lee, P. R., Levy, D. J., Liebendorder, A. P., Macnamara, E. F., Maduro, V. V., Malicdan, M. V., Markello, T. C., McCarty, A. J., Murphy, J. L., Nehrebecky, M. E., Novacic, D., Pusey, B. N., Sadozai, S., Schaffer, K. E., Sharma, P., Soldatos, A. G., Thomas, S. P., Tifft, C. J., Tolman, N. J., Toro, C., Valivullah, Z. M., Wahl, C. E., Warburton, M., Weech, A. A., Wolfe, L. A., Yu, G., Hamid, R., Newman, J. H., Phillips, J. A., Cogan, J. D., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Oct 6 2016, In : American journal of human genetics. 99, 4, p. 991-999 9 p.

Research output: Contribution to journalArticle

22 Scopus citations

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Pena, L., Kim, K. H. & Charrow, J., May 1 2010, In : Neuromuscular Disorders. 20, 5, p. 337-339 3 p.

Research output: Contribution to journalArticle

19 Scopus citations

Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome

Hucthagowder, V., Sausgruber, N., Kim, K. H., Angle, B., Marmorstein, L. Y. & Urban, Z., Jun 2006, In : American Journal of Human Genetics. 78, 6, p. 1075-1080 6 p.

Research output: Contribution to journalArticle

183 Scopus citations

Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications: Duplication of NSD1 causes growth retardation and microcephaly

Rosenfeld, J. A., Kim, K. H., Angle, B., Troxell, R., Gorski, J. L., Westemeyer, M., Frydman, M., Senturias, Y., Earl, D., Torchia, B., Schultz, R. A., Ellison, J. W., Tsuchiya, K., Zimmerman, S., Smolarek, T. A., Ballif, B. C. & Shaffer, L. G., Jan 1 2012, In : Molecular Syndromology. 3, 6, p. 247-254 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications: Duplication of nsd1 causes growth retardation and microcephaly

Rosenfeld, J. A., Kim, K. H., Angle, B., Troxell, R., Gorski, J. L., Westemeyer, M., Frydman, M., Senturias, Y., Earl, D., Torchia, B., Schultz, R. A., Ellison, J. W., Tsuchiya, K., Zimmerman, S., Smolarek, T. A., Ballif, B. C. & Shaffer, L. G., Jan 1 2013, In : Molecular Syndromology. 3, 6, p. 247-254 8 p.

Research output: Contribution to journalArticle

18 Scopus citations

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

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

Kim, K. H., Dodsworth, C., Paras, A. & Burton, B. K., Aug 2013, In : Molecular Genetics and Metabolism. 109, 4, p. 382-385 4 p.

Research output: Contribution to journalArticle

38 Scopus citations

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Burton, B. K., Wiesman, C., Paras, A., Kim, K. H. & Katz, R., Jul 1 2009, In : Molecular Genetics and Metabolism. 97, 3, p. 234-236 3 p.

Research output: Contribution to journalArticle

18 Scopus citations

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Goldlust, I. S., Hermetz, K. E., Catalano, L. M., Barfield, R. T., Cozad, R., Wynn, G., Ozdemir, A. C., Conneely, K. N., Mulle, J. G., Dharamrup, S., Hegde, M. R., Kim, K. H., Angle, B., Colley, A., Webb, A. E., Thorland, E. C., Ellison, J. W., Rosenfeld, J. A., Ballif, B. C., Shaffer, L. G. & 4 others, Demmer, L. A., Searle, B. A., Wynn, S. L. & Rudd, M. K., Sep 10 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 37, p. 14990-14994 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American journal of human genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

87 Scopus citations

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Stepensky, P., Chacón-Flores, M., Kim, K. H., Abuzaitoun, O., Bautista-Santos, A., Simanovsky, N., Siliqi, D., Altamura, D., Méndez-Godoy, A., Gijsbers, A., Eddin, A. N., Dor, T., Charrow, J., Sánchez-Puig, N. & Elpeleg, O., Aug 1 2017, In : Journal of medical genetics. 54, 8, p. 558-566 9 p.

Research output: Contribution to journalArticle

40 Scopus citations

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., Mansour, S., Holder, S. E., Brain, C. E., Burton, B. K., Kim, K. H., Pauli, R. M., Aftimos, S., Stewart, H., Kim, C. A., Holder-Espinasse, M., Robertson, S. P., Drake, W. M. & Trembath, R. C., Feb 2011, In : Nature Genetics. 43, 4, p. 303-305 3 p.

Research output: Contribution to journalArticle

201 Scopus citations

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Pyott, S. M., Schwarze, U., Christiansen, H. E., Pepin, M. G., Leistritz, D. F., Dineen, R., Harris, C., Burton, B. K., Angle, B., Kim, K., Sussman, M. D., Weis, M. A., Eyre, D. R., Russell, D. W., McCarthy, K. J., Steiner, R. D. & Byers, P. H., Apr 1 2011, In : Human molecular genetics. 20, 8, p. 1595-1609 15 p., ddr037.

Research output: Contribution to journalArticle

91 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

23 Scopus citations
4 Scopus citations

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
Comment/debate

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

Erratum: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype (American Journal of Human Genetics (2016) 99(4) (991–999)(S0002929716303718)(10.1016/j.ajhg.2016.08.017))

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M. & 14 others, Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Jan 5 2017, In : American journal of human genetics. 100, 1, 1 p.

Research output: Contribution to journalComment/debate

5 Scopus citations
Letter

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie-Rosell, A., Burton, B. K., Kim, K. H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B. & 5 others, Guillen Sacoto, M. J., Wentzensen, I. M., McLaughlin, H. M., McKnight, D. & Chung, W. K., Aug 2017, In : Clinical Genetics. 92, 2, p. 221-223 3 p.

Research output: Contribution to journalLetter

5 Scopus citations
Review article

Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children

Hiraki, S., Ormond, K. E., Kim, K. H. & Ross, L. F., Nov 1 2006, In : American Journal of Medical Genetics, Part A. 140, 21, p. 2312-2319 8 p.

Research output: Contribution to journalReview article

23 Scopus citations