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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
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
Clinical Genetics, ISSN 0009-9163, 06/2018, Volume 93, Issue 6, pp. 1210 - 1222
Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many... 
exome | microphthalmia | anophthalmia | panel | coloboma | nanophthalmos | recessive | MOLECULAR CHARACTERIZATION | VESICULAR TRANSPORT DISEASE | CONSANGUINEOUS FAMILIES | GENETICS & HEREDITY | METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE | PAX6 GENE | MUTATIONS | EYE DEVELOPMENT | CATARACT | Genetic research | Gene mutations | Chromosomes | Genomics | Investigations | Pax6 protein | Mutation | Microphthalmia
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 242
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2018, Volume 94, Issue 6, pp. 554 - 563
Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity... 
PHF3 | SVOPL | Treatable | disease burden | HOOK2 | GENOTYPE-PHENOTYPE CORRELATION | GENETICS & HEREDITY | COHORT | SPECTRUM | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Retina | Mutation | Clonal deletion | Gene deletion | Gene mapping
Journal Article
Genome Biology, ISSN 1474-7596, 06/2015, Volume 16, Issue 1, p. 134
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2010, Volume 47, Issue 4, pp. 236 - 241
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 313 - 320
Journal Article