Sep 2026
Rapid Genome and Exome Sequencing as a First-Line Diagnostic Tool for Hospitalized Pediatric Kidney Disease Patients.
Jonathan Marquez, Abbey A. Scott, L. Kruidenier et al.
· Kidney360 · 0 citations
3 papers indexed here
We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.
Not the right person? Other researchers publish under this name.
Open access
Sep 2026
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...
W. Linke, Lisa Kümper, A. Fomin et al.
· Circulation Research · 0 citations
Open access
Aug 2026
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.
Alyssa L. Rippert, G. Arnadottir, Laura Bedinger et al.
· American Journal of Medical... · 0 citations