Xiulian Liu
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View article: Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening Open
Background and aims Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evalu…
View article: Newborn Genomic Screening Detects Chromosomal Aneuploidies
Newborn Genomic Screening Detects Chromosomal Aneuploidies Open
The application of next-generation sequencing (NGS) technology is increasingly used in newborn screening (NBS) to detect monogenic disorders. However, its capability to identify chromosomal aneuploidies and its potential clinical value hav…
View article: Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry Open
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a mu…
View article: Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening
Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening Open
View article: Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening Open
Importance Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not bee…
View article: Chinese Newborn Screening for G6PD Deficiency, with Activity and Gene
Chinese Newborn Screening for G6PD Deficiency, with Activity and Gene Open