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Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 03/2010, Volume 51, Issue 3, pp. 1628 - 1635
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2011, Volume 121, Issue 1, p. 456
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 240 - 247
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Retinitis pigmentosa | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Chlamydomonas reinhardtii | Photoreceptors | Gene mapping | Cilia | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 110 - 117
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2009, Volume 85, Issue 4, pp. 465 - 481
Journal Article