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Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to... 
Retinal degeneration | Photoreceptor differentiation | Disease modeling | Next generation sequencing | retinal degeneration | next generation sequencing | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | disease modeling | ABCR | DISCOVERY | DEGENERATION | ALIGNMENT | DATABASE | MUTATIONS | photoreceptor differentiation | STARGARDT-DISEASE | Humans | Molecular Sequence Data | Jews - genetics | Point Mutation - genetics | Retinal Cone Photoreceptor Cells - enzymology | Retinitis Pigmentosa - complications | Isoenzymes - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Cell Differentiation | Alu Elements - genetics | Genealogy and Heraldry | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Organ Specificity | Sequence Analysis, DNA | Mutagenesis, Insertional - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Protein-Serine-Threonine Kinases - chemistry | Retinal Degeneration - enzymology | Retinal Rod Photoreceptor Cells - pathology | Retinal Degeneration - complications | Eye diseases | Mutation | Kinases | Stem cells | Apoptosis | Immunohistochemistry | Alternative splicing | Transcription | Exons | Retinitis pigmentosa | Insertion | Retina | Pathogenicity | Axons | Cones | Donors | Photoreceptors | Skin | Cell body | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 236 - 245
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 07/2014, Volume 98, Issue 7, pp. 946 - 950
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2017, Volume 174, Issue 7, pp. 732 - 739
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