Associated Papers
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.
Demir Ş et al.
Clinical Genetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
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
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L et al.
Jama Ophthalmology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2022
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Gatticchi L et al.
Molecular Genetics & Genomic Medicine, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.
Zhu Q et al.
Frontiers in Cell and Developmental Biology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.
Verdina T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
Zolnikova IV et al.
European Journal of Medical Genetics, 2017
Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.
Cideciyan AV et al.
Investigative Ophthalmology & Visual Science, 2015
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
Bertelsen M et al.
Investigative Ophthalmology & Visual Science, 2014
Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.
Huang WC et al.
Investigative Ophthalmology & Visual Science, 2014
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
Hargitai J et al.
Investigative Ophthalmology & Visual Science, 2005
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Rivera A et al.
American Journal of Human Genetics, 2000