Author

Xin Xu

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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. · Molecular Genetics & Genomic... · 0 citations

Case report Open access Aug 2026

A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome

This study describes a 13-month-old Chinese boy who presented with global developmental delay, axial hypotonia, stereotypic hand-flapping movements, limited vocalization, and mild facial dysmorphism and identifies a novel de novo heterozygous deletion spanning exons 6-8 of SYT1, which was subsequently confirmed by quan...

Xin Xu, Hong Xu, Ling Zhang et al. · BMC Pediatrics · 0 citations