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Author

Kristin G Monaghan

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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. · 0 citations
Jul 2026

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.

D. Latner, S. Hiatt, C. Finnila et al. · 0 citations

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