Research Topics
Species | Elizabeth A VargaSummaryAffiliation: Nationwide Children's Hospital Country: USA Publications
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Detail Information
Publications
You want to do what? My mother's choice to have direct-to-consumer genetic testingElizabeth A Varga
Division of Hematology Oncology BMT, Nationwide Children s Hospital, The Ohio State University, Columbus, OH, USA
J Genet Couns 21:382-5. 2012..In this manuscript, I will examine how this personal experience challenged my perceptions of DTC testing...
Social and ethical controversies in thrombophilia testing and update on genetic risk factors for venous thromboembolismElizabeth A Varga
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Semin Thromb Hemost 34:549-61. 2008..In this review, we will examine these issues while providing an update on genetic testing for inherited thrombotic disorders...
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephalyElizabeth A Varga
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Genet Med 11:111-7. 2009..To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR), and/or macrocephaly and to assess genotype-phenotype correlations...
Management of inherited thrombophilia: guide for genetics professionalsE A Varga
Division of Hematology Oncology BMT, Nationwide Children s Hospital, Columbus, OH 43205, USA
Clin Genet 81:7-17. 2012..This review will educate genetics professionals about inherited and acquired risk factors for VTE and discuss recommendations for management of asymptomatic individuals with thrombophilia...
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyKim L McBride
Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Autism Res 3:137-41. 2010..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation...
Genetics in the context of thrombophiliaElizabeth A Varga
Division of Molecular and Human Genetics, Columbus Children s Research Institute, Wexner 4, Columbus, OH 43205, USA
J Thromb Thrombolysis 25:2-5. 2008..Factor V Leiden, a genetic alteration that results in a hypercoagulable state, is utilized to explore relevant genetic concepts...
Genetic counseling for inherited thrombophiliasElizabeth A Varga
Division of Molecular and Human Genetics, Columbus Children s Research Institute, Wexner 4, Columbus, OH 43205, USA
J Thromb Thrombolysis 25:6-9. 2008..This article will provide insight into the training and roles of genetic counselors, review indications for thrombophilia testing, and highlight specific issues related to genetic testing, including genetic discrimination concerns...
