Newborn screening: the genomic challenge
Author:
Affiliation:
1. Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts
2. Department of Pediatrics Harvard Medical School Boston Massachusetts
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.74
Reference19 articles.
1. Serving the family from birth to the medical home‐newborn screening: a blueprint for the future—a call for a national agenda on State newborn screening programs;AAP Newborn Screening Task Force;Pediatrics,2000
2. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
3. Performance comparison of exome DNA sequencing technologies
4. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
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1. Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach;Cancers;2024-05-26
2. Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings;Frontiers in Pediatrics;2023-07-03
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?;European Journal of Human Genetics;2023-03-20
4. Next-Generation Sequencing in Newborn Screening: A Review of Current State;Frontiers in Genetics;2021-05-26
5. Ethical and Psychosocial Implications of Genomic Newborn Screening;International Journal of Neonatal Screening;2021-01-09
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