M. Brugger

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Objective PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnormalities, and significant vascular compli...

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.

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders