Author

Maureen Jacob

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Open access Sep 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

A critical region at the 3' region of NUSAP1 is delineated, where nonsense variants introduce a premature termination codon and escape NMD, which is absent from healthy controls, while frameshift variants producing C-terminal elongations appear tolerated.

Maureen Jacob, Susann Badmann, S. Bigoni et al. · Clinical Genetics · 0 citations

Case report Open access Jan 2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia

The identification of biallelic causative variants in AP4B1 established the diagnosis of monogenic “Spastic paraplegia 47, autosomal recessive” while the initial hypothesis of digenic inheritance was refuted.

Susann Badmann, A. Saparov, P. Harrer et al. · Human Mutation · 0 citations