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
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Farooqui SZ et al.
Ophthalmic Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 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
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J 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
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.
Chen BB et al.
Ophthalmic Genetics, 2022
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Khoshbakht S et al.
Archives of Iranian Medicine, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Lu Q et al.
Annals of Translational Medicine, 2020
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013