Author

B. Johnson

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Oct 2026

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS.

PURPOSE BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening. METHODS We designed inclusion criteria and assembled an initia...

Nina B. Gold, B. Johnson, H. Somanchi et al. · Genetics in Medicine · 0 citations

Review Open access Sep 2026

Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases.

PURPOSE Copy number variants (CNVs) are implicated in many health conditions. Chromosomal microarray (CMA) has traditionally been the first-tier test for CNV detection. However, exome and genome sequencing (ES/GS) can identify CNVs alongside other variant types. This study compared CNV detection using CMA versus ES/GS...

Sarah R. Poll, F. Facio, K. McWalter et al. · Genetics in Medicine · 0 citations