Associated Papers
Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.
Qin Y et al.
Orphanet Journal of Rare Diseases, 2025
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
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 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
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y et al.
Plos One, 2025
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
Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.
Li M et al.
The Journal of International Medical Research, 2024
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S et al.
Orphanet Journal of Rare Diseases, 2024
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
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
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
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