HC
Heidi Cope
RTI International
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Metabolism and Genetic Disorders
0000-0003-0586-9277
Employment
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Publications (113)
- Eight genomic newborn screening implementation challenges observed in early check Save
- International experiences of genomic newborn screening Save
- Early Check Save
- Familial hypertrophic cardiomyopathy Save
- Parent perspectives on gene selection for public health genomic newborn screening Save
- Dilated cardiomyopathy Save
- A systematic process to accurately link large-scale research consents to state public health newborn screening samples Save
- Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program Save
- Health care providers' perceptions of screening for risk of type 1 diabetes in newborns using genetic risk scores Save
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies Save
- Operationalizing the Wilson-Jungner principles for the genomics era Save
- A framework for reporting genomic newborn screening results: Illustrative cases from ten international genomic newborn screening programs Save
- Genomic newborn screening for G6PD deficiency in North Carolina: The burden of screen positive results and parent perspectives Save
- Perspectives of parents receiving normal results from genomic newborn screening Save
- Experiences of parents who receive a false-positive CK-MM screening for their newborn Save
- Re-evaluating acceptable risk of death from gene therapy Save
- Landscape of newborn screening and child public health services in North Carolina Save
- Patient perspectives of genomic newborn screening for type 1 diabetes risk Save
- Evaluating the Early Check model for education and consent in a large-scale genetic screening program Save
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program Save