Author

C. Platt

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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

Open access Sep 2026

Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework

The PIRD-GCEP framework provides validated gene-disease classifications and identifies three distinct phenotypic clusters, facilitating improved diagnosis while revealing genes requiring further investigation to confirm their role in immune regulatory disorders.

B. Solomon, J. Ross, E. Fensterle et al. · medRxiv · 0 citations