Research output per year
Research output per year
Personal profile
Research interests
Dr. Cao is a clinical laboratory geneticist, dual board certified in ABMGG clinical cytogenetics and clinical molecular genetics. She is interested and experienced in human genetics and genomics, clinical genetic assay development, as well as clinical and translational research. Her research interest includes microdeletion syndromes, chromosomal abnormalities, neurodevelopmental disorders, and clinical curation of gene dosage sensitivity.
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Research output
- 10 Article
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A comparative analysis of RAS variants in patients with disorders of somatic mosaicism
Claire Hou, Y. C., Evenson, M. J., Corliss, M. M., Mahapatra, L., Aldawood, A., Carpentieri, D. F., Chamlin, S. L., Kulungowski, A. M., Madan-Khetarpal, S., Sebastian, J., Pet, M. A., Coughlin, C. C., Willing, M. C., Pearson, G. D., Setty, B. A., El-Haffaf, Z., Cottrell, C. E., Parikh, B. A., Krysiak, K., Schroeder, M. C., & 3 others, Mar 2023, In: Genetics in Medicine. 25, 3, 100348.Research output: Contribution to journal › Article › peer-review
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From karyotypes to precision genomics in 9p deletion and duplication syndromes
Sams, E. I., Ng, J. K., Tate, V., Claire Hou, Y. C., Cao, Y., Antonacci-Fulton, L., Belhassan, K., Neidich, J., Mitra, R. D., Cole, F. S., Dickson, P., Milbrandt, J. & Turner, T. N., Jan 13 2022, In: Human Genetics and Genomics Advances. 3, 1, 100081.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
ClinGen Brain Malformation Variant Curation Expert Panel, Nov 2022, In: Genetics in Medicine. 24, 11, p. 2240-2248 9 p.Research output: Contribution to journal › Article › peer-review
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Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Uguen, K., Krysiak, K., Audebert-Bellanger, S., Redon, S., Benech, C., Viora-Dupont, E., Tran Mau-Them, F., Rondeau, S., Elsharkawi, I., Granadillo, J. L., Neidich, J., Soares, C. A., Tkachenko, N., M. Amudhavalli, S., Engleman, K., Boland, A., Deleuze, J. F., Bezieau, S., Odent, S., Toutain, A., & 8 others, Oct 2021, In: Clinical Genetics. 100, 4, p. 386-395 10 p.Research output: Contribution to journal › Article › peer-review
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Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort
McNulty, S. N., Evenson, M. J., Corliss, M. M., Love-Gregory, L. D., Schroeder, M. C., Cao, Y., Lee, Y. S., Drolet, B. A., Neidich, J. A., Cottrell, C. E. & Heusel, J. W., Oct 3 2019, In: American journal of human genetics. 105, 4, p. 734-746 13 p.Research output: Contribution to journal › Article › peer-review
16 Scopus citations