ArticleMolecular vision2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 25 citations in OpenAlex.
- Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.medRxiv : the preprint server for health sciences · 2026Article
- Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.Scientific reports · 2025Article
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- Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.Biomedicines · 2024Article
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- Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging.Life (Basel, Switzerland) · 2023Article
- Insights Into PROM1-Macular Disease Using Multimodal Imaging.Investigative ophthalmology & visual science · 2023Article
- Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.Frontiers in genetics · 2023Article
- Article
- Impaired glutamylation of RPGRProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.Molecular genetics & genomic medicine · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Deletion ofInternational journal of ophthalmology · 2021Article
- Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.Molecular vision · 2021Article
- Compound heterozygous novel frameshift variants in theCold Spring Harbor molecular case studies · 2019Article
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.JAMA network open · 2019Article
- Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL). The combined molecular strategy included Sanger sequencing of the Results: Based on this combined strategy, we managed to identify potentially causative variants in seven out of 18 families with CRD. Five of these variants are novel: c.3142_3143dupAA, p.(Glu1049Argfs*41) in the Conclusions: This is the first report on the spectrum of disease genes and pathogenic variants causing CRD in the Polish population. The study presents five novel variants identified in four genes and therefore, broadens the spectrum of probable pathogenic variants associated with CRD.
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Identifiers
29769798PMC5937672W2800223861What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.