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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2026
Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn screening (C-GUIDE NBS)Salma Shickh, Stephanie Luca, Katharine Fooks, et al.
Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation StudyJoanna Kaplanis, Dasha Deen, Prasanth Sivakumar, et al.
Genome Medicine|July 26, 2022
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectAlexander J M Blakes, Htoo A Wai, Ian Davies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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