Ian A. Glass

Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders.

PURPOSE Pathogenic variants in CDH2 cause agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (ACOGS). We aimed to define the clinical and molecular landscape of CDH2-related developmental disorders. METHODS Newly identified and previously reported families were analyzed for genotype-phenotype corr...

Rapid Genome and Exome Sequencing as a First-Line Diagnostic Tool for Hospitalized Pediatric Kidney Disease Patients.

Nx3 Is a Z-Disk Structural and Signaling Hub That Is Reduced in Heart Failure.

BACKGROUND Nx3 (novex-3) is an exceptionally small isoform of the giant protein titin, whose structural and functional roles within the sarcomere remain poorly understood. METHODS AND RESULTS We used a comprehensive, multimodal approach to define the key properties of Nx3 in healthy and failing hearts, including its...

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder with Congenital Heart Defects

The findings suggest that LRP1 haploinsufficiency is associated with a syndromic NDD, and Phenotypic differences in cardiac and neurologic involvement between participants with pLOF and missense variants suggest the possibility of alternate disease mechanisms.