Yang Cao, PhD

Yang Cao, PhD

Associate Professor, Pathology & Immunology
Director, LGG Fellowship


  • Laboratory & Genomic Medicine

Additional Titles


  • PhD, Genetics: University of Wisconsin-Madison, Madison, WI
  • Fellow, ABMGG Clinical Cytogenetics and Genomics: Mayo Clinic, Rochester, MN
  • Fellow, ABMGG Clinical Molecular Genetics and Genomics: Mayo Clinic, Rochester, MN

Board Certifications

  • ABMGG Clinical Cytogenetics and Genomics
  • ABMGG Clinical Molecular Genetics and Genomics


  • Fellow, American College of Medical Genetics

Clinical Interests

Dr. Cao’s clinical interests include new assay development and implementation as well as convergence and integration of a variety of methodologies into the next generation of clinical laboratory genomics. Dr. Cao also dedicates her efforts to fellowship training, molecular and genetic education, as well as career and professional development.

Selected Publications

Cao Y, Chtarbanova S, Petersen A, Ganetzky B. Dnr1 mutations cause neurodegeneration in Drosophila by activating the innate immune response in the brain Proc Natl Acad Sci U S A. 2013;110(19):E1752-1760. PMID:23613578
Cao Y, Mitchell E, Gorski J, Hollinger C, Hoppman N. Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development Am J Med Genet A. 2016;170(12):3276-3281. PMID:27541078
Cao Y, Aypar U. A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure Eur J Med Genet. 2016;59(5):274-277. PMID:26995686
Cao Y, Hoppman N, Kerr S, Sattler C, Borowski K, Wick M, Highsmith W, Aypar U. False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13 Case Rep Genet. 2016;2016:7397405. PMID:26998368
Cao Y, AlHumaidi S, Faqeih E, Pitel B, Lundquist P, Aypar U. A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype Eur J Med Genet. 2017;60(8):416-420. doi:10.1016/j.ejmg.2017.05.003 PMID:28554868
Kounatidis I, Chtarbanova S, Cao Y, Hayne M, Jayanth D, Ganetzky B, Ligoxygakis P. NF-κB Immunity in the Brain Determines Fly Lifespan in Healthy Aging and Age-Related Neurodegeneration Cell Rep. 2017;19(4):836–848. PMID:28445733 (International collaboration)
McNulty S, Evenson M, Corliss M, Love-Gregory L, Schroeder M, Cao Y, Lee Y, Drolet B, Neidich J, Cottrell C, Heusel J. Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort Am J Hum Genet. 2019;105(4):734-746. doi:10.1016/j.ajhg.2019.09.002. PMID:31585106
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Mau-Them F, Rondeau S, Elsharkawi I, Granadillo J, Neidich J, Soares C, Tkachenko N, Amudhavalli S, Engleman K, Boland A, Deleuze J, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly Clin Genet. 2021. doi:10.1111/cge.14015 PMID:34164801 ( International collaboration)
Sams E, Ng J, Tate V, Hou Y, Cao Y, Antonacci-Fulton L, Belhassan K, Neidich J, Mitra R, Cole F, Dickson P, Milbrandt J, Turner T. From karyotypes to precision genomics in 9p deletion and duplication syndromes. HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. PMID: 35047865
Lai A, Soucy A, Achkar C, Barkovich A, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee Y, Mefford H, Miller D, Mirzaa G, Mochida G, Rodan L, Patel M, Smith L, Spencer S, Walsh C, Yang E, Yuskaitis C, Yu T, Poduri A. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for Somatic Variants in AKT3, MTOR, PIK3CA and PIK3R2. Genet Med. 2022 Aug 22;S1098-3600(22)00871-1. doi: 10.1016/j.gim.2022.07.020. PMID: 35997716
Belhassan K, Saadalla A, Hoppman N, Lee Y, Abboud C, Webley M, Koon S, Neidich J, Cao Y. ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma. CAP TODAY. Case Report, 2022 April.
Hou Y, Evenson M, Corliss M, Mahapatra L, Aldawood A, Krysiak K, Schroeder M, Heusel J, Neidich J, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;S1098-3600(22)01036-X. doi: 10.1016/j.gim.2022.11.016. PMID: 36571464

Dani Salazar