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Author

Yanmin Chen

2 papers indexed here

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Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neurodevelopmental delay, and variable brai...

Moritz J. Paha, Arshi Mustafa, Lyvin Tat 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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