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Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2014, Volume 15, Issue 1, pp. 36 - 36
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Journal Article
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
CMAJ, ISSN 0820-3946, 08/2016, Volume 188, Issue 11, pp. E254 - E260
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 713 - 730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is... 
DISEASE GENES | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | OCULO-RENAL SYNDROME | ACTIN CYTOSKELETON | MUTATIONS | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Haplotypes | Humans | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Wnt Proteins - metabolism | Zebrafish - embryology | Case-Control Studies | Gene Knockdown Techniques | Multiprotein Complexes - metabolism | Kidney Diseases, Cystic - genetics | Adult | Bardet-Biedl Syndrome - genetics | Female | Membrane Proteins - metabolism | Child | Infant, Newborn | Wnt Signaling Pathway | Cell Line | Microscopy, Electron, Transmission | Gene Expression | Genetic Association Studies | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Caenorhabditis elegans - ultrastructure | Animals | Cerebellar Diseases - genetics | Retina - abnormalities | Mice | Polymorphism, Single Nucleotide | Mutation | Chromosome mapping | Usage | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Causes of | Genetic aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Brain | Gastrulation | Wnt protein | Congenital defects | Etiology | Mapping | Neurodevelopmental disorders | Cilia
Journal Article