Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 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
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y et al.
Plos One, 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
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX et al.
Prenatal Diagnosis, 2024
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
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW et al.
Bmc Medical Genomics, 2024
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S et al.
Orphanet Journal of Rare Diseases, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J et al.
Eye (london, England), 2023
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.
Wang Y et al.
Genes, 2023
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.
Zhong F et al.
European Journal of Medical Genetics, 2023
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
Fetal ascites in third trimester as novel prenatal finding in Bardet-Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis.
Ma GC et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M et al.
Experimental Biology and Medicine (maywood, N.j.), 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation.
Ting CY et al.
Stem Cell Research, 2021
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.
Huang L et al.
Journal of Ophthalmology, 2021
Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.
Meng X et al.
Frontiers in Cell and Developmental Biology, 2021
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018