Yang Cao, PhD, FACMG

Yang Cao, PhD, FACMG

Associate Professor, Pathology & Immunology
Program Director, ACGME-accredited Laboratory Genetics and Genomics Fellowship

Division

  • Genomic & Molecular Pathology

Additional Titles

Education

  • 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

  • American Board of Medical Genetics and Genomics, Diplomate in Clinical Cytogenetics and Genomics
  • American Board of Medical Genetics and Genomics, Diplomate in Clinical Molecular Genetics and Genomics

Recognition

  • Fellow, American College of Medical Genetics and Genomics

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, 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, 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, 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
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

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
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

Hernandez P, King K, Evenson M, Corliss M, Schroeder M, Heusel J, Neidich J, Cao Y. High-Depth Next-Generation Sequencing Panel Testing in the Evaluation of Arteriovenous Malformations. Am J Med Genet A. 2023 Jun;191(6):1518-1524. doi: 10.1002/ajmg.a.63171. PMID: 36924216
Cao Y, Evenson M, Corliss M, Schroeder M, Heusel J, Neidich J. Co-existence of Two Clinically Significant Variants Causing Disorders of Somatic Mosaicism. Genetics in Medicine Open.Available online 7 April 2023, https://doi.org/10.1016/j.gimo.2023.100807
Singh P, Kahle J, Wein A, Quirin K, Cao Y, Granadillo De Luque J. A novel WNT5A variant in context of maternal diabetes leading to a severe phenotypic presentation. Available at SSRN: https://ssrn.com/abstract=4176356 or http://dx.doi.org/10.2139/ssrn.4176356
Mojarad B, Hernandez P, Evenson M, Corliss M, Sarah L. Stein S, Theos A, Coughlin C, Sisk B, Menezes M, Schroeder M, Heusel J, Neidich J, Cao Y. Profiling PIK3CA Variants in Disorders of Somatic Mosaicism.  Genetics in Medicine Open. (Invited Publication). Available online 6 May 2023, journal pre-proof. https://doi.org/10.1016/j.gimo.2023.100815
Dehner C, Bell R, Cao Y, He K, Chrisinger J, Armstrong A, Shern J, Yohe M, Hirbe A. Loss of chromosome 3q is a prognostic marker in fusion-negative rhabdomyosarcoma. J Clin Oncol.Precis Oncol. 2023 Sep:7:e2300037. doi: 10.1200/PO.23.00037, PMID: 37738543
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.
Hubler Z, Gooch C Hediger E, Cao Y. Small Intragenic structural variants in SATB2-associated syndrome. CAP TODAY. Case Report, 2023 Aug.
Hernandez P, Stacy A, Bowling K, Corliss M, Cao Y. Potential Von Hippel-Lindau syndrome in a patient with negative germline testing. CAP TODAY. Case Report, 2023 Dec.
Vaseghi H, Habibi L, Neidich J, Cao Y, Fattahi N, Ghasemi R, Akrami S, Rashidi-Nezhad A.Towards resolving the odyssey of genetic diagnosis in Iranian patients with congenital anomalies: exome sequencing versus chromosomal microarray. Eur J Hum Genet. 2024 Jan 26. DOI: 10.1038/s41431-024-01533-x. PMID: 38278869
Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, Crooks K, Deak, K, et al. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: a survey of LGG Fellowship Program Directors. Genetics in Medicine Open Volume 2, 101820, 2024 Jan https://doi.org/10.1016/j.gimo.2024.101820
Hubler Z, Cao Y. The Somatic Mosaicism across Human Tissues (SMaHT) Network, a SMART Investment? Clinical Chemistry, Volume 70, Issue 5, May 2024, Pages 780–781, https://doi.org/10.1093/clinchem/hvae003 PMID: 38692657

Boles B, Gardner J, Rehder C, Levy B, Velagaleti G, Toydemir R, Sukov W, Larson D, Cao Y, Peterson J. Conventional cytogenetic analysis of constitutional abnormalities: a 20-year review of proficiency test results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Arch Pathol Lab Med. 2024 Jun 5. doi: 10.5858/arpa.2024-0048-CP. PMID: 38838342
Gourmel A, Kleiber N, Kokta V, Cao Y, Tran TH. Multimodal Therapeutic Approach for a Severe Case of Kaposiform Lymphangiomatosis from Procedural Interventions to Targeted Therapies. Pediatric Blood Cancer. 2024 Aug;71(8):e31079. doi: 10.1002/pbc.31079. Epub 2024 May 16. PMID: 38753412

Assistant
Dani Salazar
314-362-2975
sdaniela@wustl.edu