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Author

Raphaela Goldbach-Mansky

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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. · 0 citations
Open access Aug 2026

Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation

Dysferlin is identified as a regulator of membrane homeostasis in myeloid cells, defective membrane-stress adaptation as trigger of NLRP3 inflammasome activation is established, and a novel IL-1 mediated autoinflammatory disease caused by gain-of-function DYSF mutations is defined.

Farzana Bhuyan, Clinton J. Bradfield, Amitava Roy et al. · 0 citations

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