Research Output per year
Research Output per year
Personal profile
Certifications and Licenses
| Clinical Cytogenetics | |
| Clinical Molecular Genetics |
Training Experience
| 2014 | Postdoctoral Fellowship, University of Chicago |
| 2016 | Fellowship, University of Chicago |
| 2017 | Fellowship, University of Chicago |
Research Interests
Genetic diagnosis of inherited human diseases; Sequencing of pediatric tumor specimens; Next generation sequencing
Education/Academic qualification
PhD, Pathology, Johns Hopkins University
… → 2012
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Dive into the research topics where Kai Lee Yap 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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain—Case Report and Literature Review
Zhao, S. H., Yap, K. L., Allegretti, V., Drackley, A., Ing, A., Gordon, A., Skol, A., McMullen, P., Bohnsack, B. L., Kurup, S. P., Ralay Ranaivo, H. & Rossen, J. L., Jun 2024, In: Genes. 15, 6, 686.Research output: Contribution to journal › Article › peer-review
Open Access -
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
Drackley, A., De Simone, L., Kuntz, N., Rahmani, S., Ing, A., Rao, V. K., Rathbun, P. & Yap, K. L., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 53-58 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia
Drackley, A., Peter, M., Rathbun, P., Ing, A., Prada, C. E. & Yap, K. L., Aug 2024, In: American Journal of Medical Genetics, Part A. 194, 8, e63622.Research output: Contribution to journal › Article › peer-review
Open Access -
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
Kanwar, K., Bashey, S., Bohnsack, B. L., Drackley, A., Ing, A., Rahmani, S., Ranaivo, H. R., McMullen, P., Skol, A., Yap, K., Allegretti, V. & Rossen, J. L., Aug 2024, In: American Journal of Medical Genetics, Part A. 194, 8, e63618.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al
Spurdle, A. B., Drackley, A., Ing, A., Tudini, E., Yap, K. L. & Tavtigian, S. V., Aug 2023, In: Genetics in Medicine. 25, 8, 100868.Research output: Contribution to journal › Letter › peer-review
Open Access
Datasets
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Distinctive Clinicopathologic Features of Monomorphic B-cell Post-transplant Lymphoproliferative Disorders in Children
Zhang, Y. (Contributor), Mariani, R. (Creator), Gong, M. (Creator), Kirschmann, D. (Creator), Caparelli, E. (Creator), Wallace, N. (Contributor), Turner, R. (Creator), Lu, X. (Contributor), Gao, J. (Contributor), Yap, K. L. (Creator) & Gong, S. (Creator), SAGE Journals, 2021
DOI: 10.25384/sage.c.5394576, https://sage.figshare.com/collections/Distinctive_Clinicopathologic_Features_of_Monomorphic_B-cell_Post-transplant_Lymphoproliferative_Disorders_in_Children/5394576
Dataset