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Author

Bi-Xia Zheng

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Open access Jan 2026

Genotype–Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations

Objective PRRT2 mutations are associated with a wide spectrum of paroxysmal neurologic disorders. In this study, we analyze clinical and genetic data from a large pediatric cohort to define genotype–phenotype correlations and to provide a basis for individualized genetic counseling. Methods This retrospective study inc...

Shang-Yu Wang, Xiao Min, Ge-Ge Yuan et al. · 0 citations
Open access Sep 2026

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants

SH2B1 encodes an adaptor protein involved in metabolic regulation and body‐weight control. Although SH2B1 haploinsufficiency is a recognized contributor to obesity in 16p11.2 deletion syndrome, the relationship between rare monoallelic SH2B1 variants and neurodevelopmental disorders (NDDs) remains poorly characterized.

Xin Xu, Ge-Ge Yuan, Bi-Xia Zheng et al. · 0 citations

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