Last Updated: 09/26/2026
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Found 51 publications
Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn screening (C-GUIDE NBS).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2025
Interventional genomics: Bridging germline diagnosis and therapeutic action.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2025
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 09, 2025
Newborn genome screening (the Generation Study): the advent of presymptomatic diagnosis for genodermatoses.
Journal: The British journal of dermatology
Published: March 20, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2025
Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders.
Journal: Journal of inherited metabolic disease
Published: December 14, 2023
Genomic newborn screening: Are we entering a new era of screening?
Journal: Journal of inherited metabolic disease
Published: February 28, 2023
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Journal: International journal of neonatal screening
Published: June 20, 2022
Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
Journal: Journal of genetic counseling
Published: March 31, 2022
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.
Journal: European journal of human genetics : EJHG
Published: March 28, 2022
Last Updated: 09/26/2026