Kai Lee Yap

  • 587 Citations
20052019

Research output per year

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Personal profile

Certifications and Licenses

Clinical Cytogenetics
Clinical Molecular Genetics

Training Experience

2014Postdoctoral Fellowship, University of Chicago
2016Fellowship, University of Chicago
2017Fellowship, University of Chicago

Research Interests

Genetic diagnosis of inherited human diseases; Sequencing of pediatric tumor specimens; Next generation sequencing

Education/Academic qualification

PhD, Johns Hopkins University

… → 2012

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Research Output

  • 587 Citations
  • 18 Article
  • 1 Comment/debate
  • 1 Letter
  • 1 Review article

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Yap, K. L., Johnson, A. E. K., Fischer, D., Kandikatla, P., Deml, J., Nelakuditi, V., Halbach, S., Jeha, G. S., Burrage, L. C., Bodamer, O., Benavides, V. C., Lewis, A. M., Ellard, S., Shah, P., Cody, D., Diaz, A., Devarajan, A., Truong, L., Greeley, S. A. W., de Leó-Crutchlow, D. D. & 5 others, Edmondson, A. C., Das, S., Thornton, P., Waggoner, D. & Del Gaudio, D., Jan 1 2019, In : Genetics in Medicine. 21, 1, p. 233-242 10 p.

Research output: Contribution to journalArticle

  • 5 Scopus citations

    Correction to: Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (Genetics in Medicine, (2019), 21, 1, (233-242), 10.1038/s41436-018-0013-9)

    Yap, K. L., Johnson, A. E. K., Fischer, D., Kandikatla, P., Deml, J., Nelakuditi, V., Halbach, S., Jeha, G. S., Burrage, L. C., Bodamer, O., Benavides, V. C., Lewis, A. M., Ellard, S., Shah, P., Cody, D., Diaz, A., Devarajan, A., Truong, L., Greeley, S. A. W., De Leon, D. D. & 5 others, Edmondson, A. C., Das, S., Thornton, P., Waggoner, D. & del Gaudio, D., Jan 1 2019, In : Genetics in Medicine. 21, 1, p. 262-265 4 p.

    Research output: Contribution to journalComment/debate

  • The era of immunogenomics/immunopharmacogenomics

    Zewde, M., Kiyotani, K., Park, J. H., Fang, H., Yap, K. L., Yew, P. Y., Alachkar, H., Kato, T., Mai, T. H., Ikeda, Y., Matsuda, T., Liu, X., Ren, L., Deng, B., Harada, M. & Nakamura, Y., Jul 1 2018, In : Journal of Human Genetics. 63, 8, p. 865-875 11 p.

    Research output: Contribution to journalReview article

  • 3 Scopus citations

    Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL)

    Yap, K. L., Furtado, L. V., Kiyotani, K., Curran, E., Stock, W., McNeer, J. L., Kadri, S., Segal, J. P., Nakamura, Y., Le Beau, M. M., Gurbuxani, S. & Raca, G., Apr 3 2017, In : Leukemia and Lymphoma. 58, 4, p. 950-958 9 p.

    Research output: Contribution to journalArticle

  • 6 Scopus citations

    Afatinib activity in platinum-refractory metastatic urothelial carcinoma in patients with ERBB alterations

    Choudhury, N. J., Campanile, A., Antic, T., Yap, K. L., Fitzpatrick, C. A., Wade, J. L., Karrison, T., Stadler, W. M., Nakamura, Y. & O'Donnell, P. H., Jun 20 2016, In : Journal of Clinical Oncology. 34, 18, p. 2165-2171 7 p.

    Research output: Contribution to journalArticle

  • 64 Scopus citations