ArticleHuman mutation2022
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 19 citations in OpenAlex.
- The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.Investigative ophthalmology & visual science · 2026Article
- From Panels to Pathogen Networks: The Expanding Role of Targeted Sequencing in Veterinary Medicine.Biology · 2025Review
- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.Molecular vision · 2025Article
- Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.Human mutation · 2025Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Biomolecules · 2024Article
- Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.HGG advances · 2023Article
- Article
- Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Frontiers in cell and developmental biology · 2023Article
- Compendium of Clinical Variant Classification for 2,246 UniqueHuman mutation · 2023Article
- Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Molecular vision · 2023Article
- Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.Human mutation · 2022Article
- Common and rare variants in patients with early onset drusen maculopathy.Clinical genetics · 2022Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age-related MD (AMD) expression. Single molecule Molecular Inversion Probes (smMIPs) have proven effective in sequencing the ABCA4 gene in patients with Stargardt disease to identify associated coding and noncoding variation, however many MD patients still remain genetically unexplained. We hypothesized that the missing heritability of MDs may be revealed by smMIPs-based sequencing of all MD-associated genes and risk factors. Using 17,394 smMIPs, we sequenced the coding regions of 105 iMD and AMD-associated genes and noncoding or regulatory loci, known pseudo-exons, and the mitochondrial genome in two test cohorts that were previously screened for variants in ABCA4. Following detailed sequencing analysis of 110 probands, a diagnostic yield of 38% was observed. This established an ''MD-smMIPs panel," enabling a genotype-first approach in a high-throughput and cost-effective manner, whilst achieving uniform and high coverage across targets. Further analysis will identify known and novel variants in MD-associated genes to offer an accurate clinical diagnosis to patients. Furthermore, this will reveal new genetic associations for MD and potential genetic overlaps between iMD and AMD.
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