Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
To-Mai XH et al.
Scientific Reports, 2024
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 2024
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.
Herrera-Tirado IM et al.
Genetic Testing and Molecular Biomarkers, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.
Lalonde E et al.
Frontiers in Pediatrics, 2020
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