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Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.Journal of Genetic Counseling|May 22, 2012
The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testingKaren E Wain, Erin Riggs, Karen Hanson, et al.Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.Neurology. Genetics|December 20, 2021
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic FindingsDianalee McKnight, Sara L Bristow, Rebecca M Truty, et al.Epilepsia Open|August 24, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsyRebecca Truty, Nila Patil, Raman Sankar, et al.Pageof 1