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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2016, Volume 57, Issue 11, pp. 4814 - 4814
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, p. 511
  Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal... 
Genetic disorders | Genes | Eye diseases | Mutation | Ophthalmology | Polymorphism
Journal Article
Molecular Vision, ISSN 1090-0535, 05/2008, Volume 14, Issue 109-10, pp. 922 - 927
Purpose: The purpose of this project was to determine if mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase... 
OPHTHALMOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Male | Mutation - genetics | Genes, Dominant | DNA Mutational Analysis | Pedigree | Polymerase Chain Reaction | Adult | Female | Aged | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Ubiquitin-Protein Ligases - genetics | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 617 - 627
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Journal Article
Science, ISSN 0036-8075, 4/2005, Volume 308, Issue 5720, pp. 362 - 364
Journal Article
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, pp. 147 - 147
Background: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy... 
Copy number variation | Next-generation sequencing | Maximum penalized likelihood estimation | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | HIDDEN MARKOV MODEL | HUMAN GENOME | GENE | MOLECULAR DIAGNOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HIGH-RESOLUTION | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SEGMENTAL DUPLICATIONS | STRUCTURAL VARIATION | RETINITIS-PIGMENTOSA | Likelihood Functions | Humans | Sensitivity and Specificity | Software | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Cytogenetics | Usage | Research | Nucleotide sequencing | Copy number variations | DNA sequencing | Markov process | Fidelity | Intelligence | Segmentation | Identification methods | Copy number | Genes | Burrows | Lung | Lung cancer | Genomes | Decomposition | Hybridization | Population genetics | Bacterial artificial chromosomes | Dissolved organic carbon | Epidermal growth factor | Genetics | Mathematical models | Bioinformatics | Deoxyribonucleic acid--DNA | Breakpoints | Statistical analysis | Nucleotide sequence | Introns | Principal components analysis | Nucleic acids | Computer programs | Sensitivity | Algorithms | DNA microarrays | Mutation | Gene mapping | Artificial intelligence | Bayesian analysis | Methods | Cancer | Index Medicus
Journal Article