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Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 3/2019, Volume 21, Issue 3, pp. 694 - 704
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 8279 - 11
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy... 
CLINICAL DEFINITION | REFINEMENT | NMNAT1 | ONSET RETINAL DYSTROPHY | RPGRIP1 GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RECESSIVE RETINITIS-PIGMENTOSA | GENETIC-HETEROGENEITY | COHORT | MUTATIONS | Polymerase chain reaction | Copy number | Blindness | Retinal degeneration | Retina | Diagnosis | Mutation | Dystrophy
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 694 - 704
Purpose: With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical... 
RPGRIP1 | genome sequencing | Inherited retinal degeneration | Noncoding pathogenic variants | Intronic pathogenic variants | LOCALIZATION | EFFICACY | SAFETY | MODEL | IDENTIFICATION | COPY-NUMBER VARIATION | GENETICS & HEREDITY | GENE-THERAPY | MUTATIONS
Journal Article
Developmental Biology, ISSN 0012-1606, 10/2018, Volume 442, Issue 1, pp. 60 - 68
Journal Article
The EMBO Journal, ISSN 0261-4189, 05/2018, Volume 37, Issue 10, p. n/a
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 04/2016, Volume 233, Issue 4, pp. 456 - 459
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously... 
RPGRIP1 | cone-rod dystrophy | Leber congenital amaurosis | genetics | OPHTHALMOLOGY | PROTEINS
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2005, Volume 280, Issue 39, pp. 33580 - 33587
Journal Article