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Author

R. Ganetzky

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3 papers indexed here

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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 Sep 2026

Characterization of Large-Scale Mitochondrial DNA Rearrangements Using Complementary Short- and Long-Read Sequencing Approaches

Background: Large-scale mitochondrial DNA (mtDNA) rearrangement, including deletion or duplication, is one of the important causes of primary mitochondrial disease. In clinical practice, short-read sequencing (SRS)-based assays typically detect these rearrangements by identifying regional mtDNA copy-number changes but...

Jing Wang, Joe Chan, Mian Umair Ahsan et al. · 0 citations
Open access Jul 2026

Generation of a Patient-Derived Inducible Pluripotent Stem Cell Model for Studying the YARS2-Related Genetic Disease

A patient-derived inducible pluripotent stem cell (iPSC) model is created, which can be used as a model to study a clinically severe case of YARS2 disease and demonstrates the stemness of iPSC lines, as determined using qPCR, immunostaining, and trilineage differentiation.

Chen-Bo Zeng, Andrew Gray, R. Ganetzky et al. · 0 citations

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