Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Abdelkhalek ZS et al.
Scientific Reports, 2024
Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.
Yang X et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Zhang H et al.
Stem Cell Research, 2019
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD et al.
Annals of Clinical and Laboratory Science, 2011
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Georgiou T et al.
Genetic Testing and Molecular Biomarkers, 2009
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