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Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review by Lixia Zhan, Lixia Zhan, Chunrong Gui, Chunrong Gui, Wei Wei, Wei Wei, Juliang Liu, Juliang Liu, Baoheng Gui, Baoheng Gui, Baoheng Gui
Published 2023-07-01

Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology, has shown great potential for screening and...

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Correction: Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review by Lixia Zhan, Lixia Zhan, Chunrong Gui, Chunrong Gui, Wei Wei, Wei Wei, Juliang Liu, Juliang Liu, Baoheng Gui, Baoheng Gui, Baoheng Gui
Published 2025-07-01

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49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes by Yufang Du, Liangrong Liao, Xianda Wei, Yunting Ma, Meizhen Shi, Chunyan Li, Juliang Liu, Wenting Lin, Hao Zeng, Shaoke Chen, Baoheng Gui
Published 2025-01-01

49, XXXYY is a rare form of sex chromosomal aneuploidy that has been reported in 11 cases worldwide. The parental origin of the extra sex chromosomes and the specific clinical features of this condition remain unclear. We recruited a case with 49, XXXYY and performed genome-wide copy number variatio...

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