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Katherine H Kim

Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
20062023

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  • 2023

    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, Keena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K. D., Campeau, P. M., Millan, F., Taylor, J. A., Lochmüller, H., Higgs, M. R., Goula, A., Bernhard, B., Velasco, D. J., Schmanski, A. A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P. C., Yamamoto, S., Raun, N., Jakub, T. E., Kramer, J. M., den Hoed, J., Fisher, S. E., Brunner, H. G. & Kleefstra, T., Jan 12 2023, In: Human Genetics and Genomics Advances. 4, 1, 100157.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    7 Scopus citations
  • 2022

    Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

    Holtz, A. M., VanCoillie, R., Vansickle, E. A., Carere, D. A., Withrow, K., Torti, E., Juusola, J., Millan, F., Person, R., Guillen Sacoto, M. J., Si, Y., Wentzensen, I. M., Pugh, J., Vasileiou, G., Rieger, M., Reis, A., Argilli, E., Sherr, E. H., Aldinger, K. A. & Dobyns, W. B. & 28 others, Brunet, T., Hoefele, J., Wagner, M., Haber, B., Kotzaeridou, U., Keren, B., Heron, D., Mignot, C., Heide, S., Courtin, T., Buratti, J., Murugasen, S., Donald, K. A., O'Heir, E., Moody, S., Kim, K. H., Burton, B. K., Yoon, G., Campo, M. D., Masser-Frye, D., Kozenko, M., Parkinson, C., Sell, S. L., Gordon, P. L., Prokop, J. W., Karaa, A., Bupp, C. & Raby, B. A., Oct 2022, In: Genetics in Medicine. 24, 10, p. 2065-2078 14 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    5 Scopus citations
  • 2016

    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 journal › Article › peer-review

    Open Access
    61 Scopus citations
  • 2015

    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 journal › Article › peer-review

    Open Access
    200 Scopus citations

  • Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

    Kim, K. H., Messinger, Y. H. & Burton, B. K., Mar 2015, In: Molecular Genetics and Metabolism Reports. 2, p. 20-24 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    11 Scopus citations
  • 2011

    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 journal › Article › peer-review

    252 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 2011, In: Human molecular genetics. 20, 8, p. 1595-1609 15 p., ddr037.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    114 Scopus citations
  • 2010

    Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

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

    Research output: Contribution to journal › Article › peer-review

    23 Scopus citations
  • 2009

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

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

    Research output: Contribution to journal › Article › peer-review

    24 Scopus citations
  • 2008

    Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naslazymel])

    Kim, K. H., Decker, C. & Burton, B. K., Mar 2008, In: Pediatrics. 121, 3, p. e714-e717

    Research output: Contribution to journal › Article › peer-review

    27 Scopus citations
  • 2006

    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 journal › Article › peer-review

    Open Access
    241 Scopus citations