Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
- DOI
- 10.1016/j.gim.2025.101532
- Published
- 2025 Oct
- Container
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publisher
- Not recorded
- Open access
- yes
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limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1016/j.gim.2025.101532,
title = {Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.},
author = {Kaplanis J and Deen D and Sivakumar P and de Almeida Gomes M and Puzriakova A and Leong I and Savage K and Aldam G and Skelton J and Quinn P and Parrish A and Baple E and To M and Stone K and Bick D and Pichini A and Tuff-Lacey A and Scott R and Thomas E and Kasperaviciute D},
year = {2025},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
doi = {10.1016/j.gim.2025.101532},
url = {https://doi.org/10.1016/j.gim.2025.101532}
}RIS
TY - JOUR TI - Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study. AU - Kaplanis J AU - Deen D AU - Sivakumar P AU - de Almeida Gomes M AU - Puzriakova A AU - Leong I AU - Savage K AU - Aldam G AU - Skelton J AU - Quinn P AU - Parrish A AU - Baple E AU - To M AU - Stone K AU - Bick D AU - Pichini A AU - Tuff-Lacey A AU - Scott R AU - Thomas E AU - Kasperaviciute D PY - 2025 JO - Genetics in medicine : official journal of the American College of Medical Genetics DO - 10.1016/j.gim.2025.101532 UR - https://doi.org/10.1016/j.gim.2025.101532 ER -
APA
J, K., D, D., P, S., M, D. A. G., A, P., I, L., K, S., G, A., J, S., P, Q., A, P., E, B., M, T., K, S., D, B., A, P., A, T., R, S., E, T., & D, K. (2025). Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101532
Source records
- pubmed · retrieved 2026-09-26T19:45:28.990Z