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
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
PhD, Pathology, Johns Hopkins University
… → 2012
Fingerprint
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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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
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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., 2023, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
Open Access -
Lineage switch from acute myeloid leukemia to B-lymphoblastic lymphoma with an acquired PIK3R1 loss-of-function mutation
Aldulescu, M., Leuer, K., Jennings, L. J., Yap, K. L. & Gong, S., Jan 2023, In: American Journal of Hematology. 98, 1, p. E1-E3Research output: Contribution to journal › Letter › peer-review
Open Access -
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
Slattery, S. M., Perez, I. A., Ceccherini, I., Chen, M. L., Kurek, K. C., Yap, K. L., Keens, T. G., Khaytin, I., Ballard, H. A., Sokol, E. A., Mittal, A., Rand, C. M. & Weese-Mayer, D. E., Jun 2023, In: Clinical Autonomic Research. 33, 3, p. 231-249 19 p.Research output: Contribution to journal › Review article › peer-review
5 Scopus citations -
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing
Tuteja, S., Kadri, S. & Yap, K. L., Jan 2022, In: Journal of Pathology Informatics. 13, 100130.Research output: Contribution to journal › Article › 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) & Xinyan, L. (Contributor), SAGE Journals, 2021
DOI: 10.25384/sage.c.5394576.v1, https://sage.figshare.com/collections/Distinctive_Clinicopathologic_Features_of_Monomorphic_B-cell_Post-transplant_Lymphoproliferative_Disorders_in_Children/5394576/1
Dataset