Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.
Gu X et al.
Frontiers in Molecular Biosciences, 2024
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu J et al.
Frontiers in Genetics, 2023
Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.
Zhou M et al.
Frontiers in Pediatrics, 2022
35664874 (PubMed )
Supplement: Table_1.XLSX › Diagnostic_data
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