Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.
Liu X et al.
Experimental Eye Research, 2025
Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.
Wang J et al.
Frontiers in Genetics, 2025
40406060 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table2
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.
Huang R et al.
Human Genetics, 2023
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome.
Tao T et al.
European Journal of Ophthalmology, 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
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
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