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Author

P. Marcogliese

h-index 18 View on Semantic Scholar

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Review Open access Aug 2026

Patient and Family Reported Clinical Picture of IRF2BPL-Related Disorders.

The study data support the hypothesis that IRF2BPL missense variants are associated with a less severe disease presentation and progression than participants with truncating variants.

Z. Goldstone-Joubert, Danielle M Pascual, Laurie A. Bailey et al. · 0 citations
Open access Aug 2026

CK2 variant function and disease modelling in Drosophila reveal allelic heterogeneity and Wnt/β-catenin-mediated phenotypes

Drosophila models of CSNK2A1 and CSNK2B expression are generated to functionally assess variant impact, and Wnt agonists partially rescue phenotypes associated with adult-specific neuronal reduction of CkII, finding that neuronal and glial CkII is critical for organismal development.

Yina Her, Danielle M Pascual, Ying Lao et al. · 0 citations

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