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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.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|November 5, 2013
Health-related quality of life of bone marrow versus peripheral blood stem cell donors: a prespecified subgroup analysis from a phase III RCT-BMTCTN protocol 0201Galen E Switzer, Jessica G Bruce, Donna Harrington, 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|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, 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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