Anna M. Tracewska
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View article: Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy Open
Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4 -associated retinopathy. Objective To investigate whether women are overrepresented among individuals with ABCA4 -associated …
View article: Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes Open
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-…
View article: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Open
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis…
View article: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Open
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is c…
View article: Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes. Open
Previously, there were no comprehensive reports of IRDs in the Polish population. This study is the first to indicate that the most common IRDs in Poland are ABCA4-associated diseases, regardless of the phenotype. In Polish patients…
View article: A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290 Open
CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non…
View article: Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease
Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease Open
This study found an imbalance in observed sex ratio among patients harboring a mild ABCA4 allele, which concerns approximately 25% of all patients with STGD1, suggesting that STGD1 should be considered a polygenic or multifactorial disease…
View article: DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Open
The DYNC2H1 variants discussed herein were either hypomorphic or affecting a retina-predominant transcript and caused nonsyndromic IRD. Dynein variants, specifically DYNC2H1 variants are reported as a cause of non syndromic IRD.
View article: Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics Open
View article: Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland Open
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since…
View article: Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics Open
Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (r…