Clinical Assistant Professor, Department of Biomedical Sciences
Contact Information
Email:Biosketch
Margaret Chen, PhD, is a clinical molecular geneticist with PreventionGenetics in Marshfield, Wisconsin. She is a graduate of Hope College in Holland, Michigan. She earned a master's degree in genetic counseling from University of Colorado Health Sciences Center in Denver, Colorado. She earned her doctorate in molecular, cellular, developmental biology, and genetics from University of Minnesota in Minneapolis, Minnesota.
Dr. Chen's position with PreventionGenetics involves: performing case review and release of DNA sequencing for a specialized portfolio of diagnostic tests, including newborn screening follow-up and other inborn errors of metabolism; writing clinical test report summaries; providing quality assurance and quality control and identifying adverse events; and developing new diagnostic tests with the research and development team.
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Board Certification
- American Board of Medical Genetics (Clinical Molecular Genetics)
- American Board of Genetic Counseling (None)
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Education and Training
- Fellowship 2008, Clinical Molecular Genetics, University of Alabama at Birmingham
- PhD 2005, Molecular, Cellular, Developmental Biology, and Genetics, University of Minnesota
- MS 1998, Genetic Counseling, University of Colorado Denver
- BS 1993, Biology and Psychology, Hope College
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Publications
Tayeh M.K., Chen M., Fullerton S.M., Gonzales P.R., Huang S.J., Massingham L.J., O'Daniel J.M., Stewart D.R., Stiles A.R., Evans B.J. The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine. 2023;25
Best R.G., Khushf G., Rabin-Havt S.S., Clayton E.W., Grebe T.A., Hagenkord J., Topper S., Fivecoat J., Chen M., Grody W.W. Stewardship of Patient Genomic Data: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG) Obstetrical and Gynecological Survey. 2022;77(9):517-519.
Best R.G., Khushf G., Rabin-Havt S.S., Clayton E.W., Grebe T.A., Hagenkord J., Topper S., Fivecoat J., Chen M., Grody W.W. Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine. 2022;24(3):509-511.
Chora J.R., Iacocca M.A., Tichý L., Wand H., Kurtz C.L., Zimmermann H., Leon A., Williams M., Humphries S.E., Hooper A.J., Trinder M., Brunham L.R., Costa Pereira A., Jannes C.E., Chen M., Chonis J., Wang J., Kim S., Johnston T., Soucek P., Kramarek M., Leigh S.E., Carrié A., Sijbrands E.J., Hegele R.A., Freiberger T., Knowles J.W., Bourbon M. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification Genetics in Medicine. 2022;24(2):293-306.
Grebe T.A., Khushf G., Chen M., Bailey D., Brenman L.M., Williams M.S., Seaver L.H. The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine. 2020;22(9):1431-1436.
Chen M.A., Weinstein D.A. Glycogen storage diseases: Diagnosis, treatment and outcome Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. 2017:271-295.
Wortmann S.B., Chen M.A., Colombo R., Pontoglio A., Alhaddad B., Botto L.D., Yuzyuk T., Coughlin C.R., Descartes M., Grűnewald S., Mills P.B., Pitt J., Potente C., Rodenburg R., Kluijtmans L.A.J., Sampath S., Pai E.F., Wevers R.A., Tiller G.E., Kyriss M.N.M., Maranda B., Reid E.S., Thomas J.A., Waters P.J., White S.M. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences Journal of Inherited Metabolic Disease. 2017;40(3):423-431.
Brown L., Corrado M., van der Ende R., Derks T., Chen M., Siegel S., Hoyt K., Correia C., Lumpkin C., Flanagan T., Carreras C., Weinstein D. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children Journal of Inherited Metabolic Disease. 2015;38(3):489-493.
Goodin K., Chen M., Lose E., Mikhail F.M., Korf B.R. Advances in genetic testing and applications in newborn medicine NeoReviews. 2008;9(7)
Esch J.J., Chen M.A., Hillestad M., Marks M.D. Erratum: Comparison of TRY and the closely related At1g01380 gene in controlling Arabidopsis trichome patterning (Plant Journal (2004) 40 (860-869)) Plant Journal. 2006;46(2):350.
Esch J.J., Chen M.A., Hillestad M., Marks M.D. Comparison of TRY and the closely related At1g01380 gene in controlling Arabidopsis trichome patterning Plant Journal. 2004;40(6):860-869.
Esch J.J., Chen M., Sanders M., Hillestad M., Ndkium S., Idelkope B., Neizer J., Marks M.D. A contradictory GLABRA3 allele helps define gene interactions controlling trichome development in Arabidopsis Development. 2003;130(24):5885-5894.