Associated Papers
Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.
Guan L et al.
European Journal of Medical Research, 2026
41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2024
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
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX et al.
Prenatal Diagnosis, 2024
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.
Wang Y et al.
Genes, 2023
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
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
Joubert syndrome: Molecular basis and treatment.
Spahiu L et al.
Journal of Mother and Child, 2022
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
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Hauser NS et al.
Molecular Genetics & Genomic Medicine, 2018
29368431 (PubMed )
Supplement: MGG3-6-200-s002.xlsx › Supplemental_Table_2
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.
Kerr EN et al.
Clinical Genetics, 2016
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y et al.
Molecular Vision, 2015
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
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