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
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.
Sao Su S et al.
Ophthalmic Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Improving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates.
Cornelis SS et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Burnight ER et al.
Human Molecular Genetics, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Birtel J et al.
Genes, 2020
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.
Klufas MA et al.
Retina (philadelphia, Pa.), 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J et al.
Journal of Medical Genetics, 2017
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Fujinami K et al.
American Journal of Ophthalmology, 2013
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.
Oldani M et al.
Genetics and Molecular Research : Gmr, 2012
Functional Analysis of Retinal Flecks in Stargardt Disease.
Verdina T et al.
Journal of Clinical & Experimental Ophthalmology, 2012
The dark atrophy with indocyanine green angiography in Stargardt disease.
Giani A et al.
Investigative Ophthalmology & Visual Science, 2012
A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease.
Gomes NL et al.
Investigative Ophthalmology & Visual Science, 2009
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
Cella W et al.
Experimental Eye Research, 2009
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
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Shroyer NF et al.
Human Molecular Genetics, 2001
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis RA et al.
American Journal of Human Genetics, 1999
Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration.
Abousy M et al.
Ophthalmology Science, 0