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Author

Alyssa L. Rippert

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2 papers indexed here

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Oct 2026

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

These findings establish MAP2K4 as a Mendelian neurodevelopmental disorder-associated gene and identify impaired JNK signaling as the underlying mechanism and expands the spectrum of JNK pathway disorders and underscores the critical role of JNK signaling in human brain development.

Tomoki T. Nomakuchi, A. Rippert, Sabrina A. Santos-De León et al. · 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. · 0 citations

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