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
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
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
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 2023
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q et al.
Genes, 2023
36672886 (PubMed )
Supplement: genes-14-00145-s001.zip › genes-2104317-supplementary.pdf
Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome.
Chen C et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei A et al.
Pigment Cell & Melanoma Research, 2019
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