Darlene Riethmaier

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Rebecca Truty, Nila Patil, Raman Sankar et al. · Epilepsia Open · 2019 · 123 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Chromosomal microarray impacts clinical management

Erin Rooney Riggs, Karen E. Wain, Darlene Riethmaier et al. · Clinical Genetics · 2013 · 91 citations

Life Sciences, Genetics, Insurance +14

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

Dianalee McKnight, Sara L. Bristow, Rebecca Truty et al. · Neurology Genetics · 2021 · 59 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

Dianalee McKnight, Sara L. Bristow, Rebecca Truty et al. · PubMed · 2022 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Erin Rooney Riggs, Karen E. Wain, Darlene Riethmaier et al. · Human Mutation · 2013 · 30 citations · Full text

Life Sciences, Bioinformatics, Genetics +15