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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.
NPJ Genomic Medicine|December 15, 2020
Clinical utility of genomic sequencing: a measurement toolkitRobin Z Hayeems, David Dimmock, David Bick, 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.
NPJ Genomic Medicine|February 26, 2024
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disordersKristen M Wigby, Deanna Brockman, Gregory Costain, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 10, 2015
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic SyndromeCaterina Mele, Mathieu Lemaire, Paraskevas Iatropoulos, 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.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
Human Genetics|March 7, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesDaniel Brooks, Elizabeth Burke, Sukyeong Lee, et al.
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