Author

Man Liu

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Open access Jul 2026

Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis.

This study represents the first breakpoint-resolved characterization of a pathogenic CEP290 tandem duplication encompassing exons 31-53 identified in compound heterozygosity with a pathogenic splice-site variant in a patient with early-onset retinal degeneration.

Shu-Bo Xu, Jia Geng, Wen-Yu Xiong et al. · BMC Medical Genomics · 0 citations

Open access Aug 2026

Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family

It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.

Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al. · Frontiers in Genetics · 0 citations