Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

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(2020) Aashish N. Adhikari et al.   NATURE MEDICINE

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Targeted next generation sequencing for newborn screening of Menkes disease

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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

(2019) Ozge Ceyhan-Birsoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Current State of Newborn Screening in the United States

(2019) Noelle Andrea V. Fabie et al.   PEDIATRIC CLINICS OF NORTH AMERICA

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

(2019) Cynthia S. Gubbels et al.   GENETICS IN MEDICINE

Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening

(2019) Kate C. Verbeeten et al.   MOLECULAR GENETICS AND METABOLISM

The BabySeq project: implementing genomic sequencing in newborns

(2018) Ingrid A. Holm et al.   BMC Pediatrics

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian et al.   GENETICS IN MEDICINE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates

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Newborn Screening

(2009) Inderneel Sahai et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

(2008) Alex R Kemper et al.   GENETICS IN MEDICINE

Newborn screening

(2008) Bridget Wilcken et al.   PATHOLOGY