Elizabeth Barrie, PhD

Molecular Diagnostics

Elizabeth Barrie, PhD

Department: Pathology

Email: Elizabeth.Barrie@vcuhealth.org

Assistant Professor of Pathology
Associate Director of Molecular Diagnostics
Associate Director of Cytogenetics
Office: (804) 628-3662 | (804) 628-2993

Elizabeth Barrie, PhD, FACMG, is an Associate Director of both the Molecular Diagnostics and Cytogenetics laboratories at Virginia Commonwealth University Health System. She also serves as a core faculty member and the Associate Program Director for the Laboratory Genetics and Genomics (LGG) fellowship program. She received a BS in Biology from Case Western Reserve University followed by a PhD in Biomedical Sciences from The Ohio State University. Dr. Barrie completed a 3 year American Board of Medical Genetics and Genomics (ABMGG) fellowship at Nationwide Children’s Hospital. She is board certified in Clinical Cytogenetics and Genomics as well as Clinical Molecular Genetics and Genomics through ABMGG.

Dr. Barrie’s clinical and research interests involve genetic testing for both inherited and acquired conditions with a particular interest in prenatal cell-free DNA screening. She is also involved in the implementation, and application of new technologies in the laboratory including next-generation sequencing. She has successfully coordinated international research collaborations to investigate the phenotypes linked to novel variants in rare diseases.

 Clinical Specialties: Clinical Molecular Genetics and Clinical Cytogenetics and Genomics

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Dr. Elizabeth Barrie abbreviated CV



2019 Fellowship: ABMGG Fellowship in Clinical Molecular and Cytogenetics and Genomics, Nationwide Children’s Hospital & The Ohio State University, Columbus, OH.

2014 Doctoral: PhD Biomedical Sciences, The Ohio State University, Columbus, OH.

2008 Undergraduate: BS Biology, Case Western Reserve University, Cleveland, OH.

Licenses & Certifications

2019          Clinical Cytogenetics and Genomics, American Board of Medical Genetics and Genomics (ABMGG)

2019           Clinical Molecular Genetics and Genomics, American Board of Medical Genetics and Genomics (ABMGG)

Selected Awards & Honors


2015           Pharmacogenomics Research Network Featured Investigator


2014            Finalist for Hayes Graduate Research Forum


2013            Chauncey D. Leake Award for Excellence in Pharmacology


2013            Distinguished University Fellowship Recipient, The Ohio State University

2007            Howard Hughes Medical Institute Grant recipient for SPUR (Summer Program in Undergraduate Research)


Professional Service (outside)

Clinical & Laboratory Standards Institute Document Development Committee (CLSI DDC) on Interpretive Framework Heritable Disorders (MM29)

Systematic evidence-based review on behalf of the ACMG Professional Practice and Guidelines Committee

Recent Invited Presentations

“Rare patient with an interstitial 13q deletion derived from a paternal chromosome 13 paracentric inversion.” Association for Molecular Pathology (AMP) Meeting, Salt Lake City, UT, November, 2023. (Senior author; Divya Vinjamur was presenting author).

“Persistent high levels of donor cells following solid organ transplant confirm diagnosis of graft versus host disease.” Association for Molecular Pathology Meeting, Virtual, November, 2020. (Senior author; Kelly Rafferty was presenting author).

“Atypical Fragile X syndrome mosaicism in family of 5 boys.” Association for Molecular Pathology Meeting, San Antonio, TX, November, 2018.

“Hypertetraploid partial molar pregnancy identified by microarray and STR analysis, with subsequent choriocarcinoma diagnosis.” Association for Molecular Pathology Meeting, Salt Lake City, UT, November, 2017.

Selected Publications

Peer Reviewed Papers

Paulraj P, Barrie ES, Jackson-Cook C. “Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor-forming potential in an early-stage prostate cancer epithelial subline (M2205).” Molecular Genetics & Genomic Medicine. Epub 2023 Oct 30. DOI: 10.1002/mgg3.2307. PMID: 37902189.

Rose NC*, Barrie ES*, Malinowski J, Jenkins G, McClain MR, LaGrave D, Leung ML, ACMG Professional Practice and Guidelines Committee. “Systematic evidence-based review: the application of noninvasive prenatal screening using cell free DNA in general risk pregnancies.” Genetics in Medicine. 2022 Jul;24(7):1379-1391. Epub 2022 May 24. PMID: 35608568. *equal contribution.

Gillam J, Catic A, Paulraj P, Dalton J, Lai G, Jackson-Cook C, Turner S, Ferreira-Gonzalez A, Barrie E. “Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report.” Genes Chromosomes Cancer. 2022 Aug;61(8):491-496. Epub 2022 Mar 16. DOI: 10.1002/gcc.23039. PMID: 35294081.

Rafferty KA, Barrie ES, Turner SA, Ferreira-Gonzalez A, Jackson-Cook C, Paulraj P. “Severe Graft-Versus-Host Disease Following Solid Organ Transplant Confirmed by Chimerism Studies and Cytogenetic Analyses.” Exp Clin Transplant. Epub 2022 Mar 15. DOI: 10.6002/ect.2021.0460. PMID: 35297330.

Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal K, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster J, “Expanding the spectrum of CEP55-associated disease to viable phenotypes.” American Journal of Medical Genetics Part A. 2020 May;182(5):1201-1208. Epub 2020 Feb 25. DOI: 10.1002/ajmg.a.61512. PMID: 32100459.

Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. “Genotype-Phenotype Correlation: Inheritance and Variant-Type Infer Pathogenicity in IQSEC2 Gene.” European Journal of Medical Genetics. 2020 Mar;63(3):103735. Epub 2019 Aug 12:103735. DOI: 10.1016/j.ejmg.2019.103735. PMID: 31415821.

Morgan A, Koboldt DC, Barrie ES, Crist E, García GG, Mezzavilla M, Faletra F, Mihalic-Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell’Orco D, Girotto G. “Mutations in PLS1, encoding fimbrin, cause autosomal dominant non-syndromic hearing loss.” Human Mutation. 2019 Dec;40(12):2286-2295. Epub 2019 Aug 9. DOI: 10.1002/humu.23891. PMID: 31397523.

Barrie ES, Alfaro MP, Pfau RB, McBride K, Manickam K, Zmuda EJ. “De novo loss-of-function variants in NSD2 (WHSC1) associate with Wolf- Hirschhorn-like phenotype.” CSH Molecular Case Studies. 2019 Aug;5(4). Epub 2019 Jun 06. DOI: 10.1101/mcs.a004044. PMID: 31171569.

Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, Pyatt R, Reshmi S, Gastier-Foster JM, Pfau R, Astbury C. “Pericentromeric Regions of Homozygosity on the X Chromosome are Likely Benign Population Variation.” European Journal of Medical Genetics, 2018 Jul;61(7):416-420. Epub 2018 Mar 20. DOI: 10.1016/j.ejmg.2018.02.008. PMID: 29572065.

Book Chapters and Monographs

Barrie ES and Ferreira-Gonzalez A. “Advances in Cell-Free DNA.” In Gregory J. Tsongalis (Ed.) Advances in Molecular Pathology. 2022 Nov: Volume 5, Issue 1, 141 – 148. DOI: 10.1016/j.yamp.2022.08.002.

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