Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics

Overview of attention for article published in Genetics in Medicine, February 2018

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

Article in Epilepsia Open (July 2019)

Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family

Article in Heliyon (December 2018)