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Open access Sep 2026

Expanding clinical and variant spectrum of CBX1 -related syndrome: Report of three novel cases

In vitro cellular assays revealed that CBX1 p.(Cys60Gly) variant showed an intermediate cellular phenotype between the wild type and the CBX1 p.(Leu40Pro) and p.(Cys60Arg) variants, suggesting a possible genotype-phenotype correlation.

Graciela Carrillo, Shuhei Fujino, Harrison Higgs et al. · 0 citations
Open access Aug 2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

This study demonstrated an AS-based protocol optimized for non-HMW DNAs that enabled the comprehensive characterization of genomic and methylation changes, highlighting its robust performance in the genomic evaluation of X-linked genetic defects with promising broader application to other disease states.

Jia Zheng, Keying Li, Jin Han et al. · 0 citations

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