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Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3194, doi. 10.3390/ijms23063194
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- Article
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1508, doi. 10.3390/ijms22041508
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- Article
cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 20, p. e158, doi. 10.1093/nar/gku849
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- Article
Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development.
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- Cells (2073-4409), 2024, v. 13, n. 13, p. 1142, doi. 10.3390/cells13131142
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- Article
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.
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- Genes, 2023, v. 14, n. 4, p. 934, doi. 10.3390/genes14040934
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- Article
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
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- Genes, 2021, v. 12, n. 1, p. 65, doi. 10.3390/genes12010065
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- Article
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.
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- Genes, 2020, v. 11, n. 7, p. 800, doi. 10.3390/genes11070800
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- Article
The Expression of Decidual Protein Induced by Progesterone (DEPP) Is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells.
- Published in:
- Genes, 2020, v. 11, n. 1, p. 111, doi. 10.3390/genes11010111
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- Article
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9569, doi. 10.3390/ijms25179569
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- Article
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6540, doi. 10.3390/ijms25126540
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- Article