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Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.American Journal of Human Genetics|May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.American Journal of Human Genetics|August 28, 2020
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS ProjectTamara S Roman, Stephanie B Crowley, Myra I Roche, et al.Nature Medicine|September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check programHeidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.Pageof 3