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Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
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
Journal of Medical Genetics, ISSN 0022-2593, 10/2018, Volume 55, Issue 10, pp. 705 - 712
Background Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic... 
molecular genetics | ophthalmology | vision research | clinical genetics | GENE | CILIUM | DISEASE | GENETICS & HEREDITY | RIBBON SYNAPSES | MUTATIONS | Phenotypes | Transcription | Pathogenesis | Retinitis pigmentosa | Data processing | Retina | Amino acids | Genomes | Gene expression | Patients | Population genetics | Genetic screening | Proteins | Gene frequency | Photoreceptors | Retinitis | Mutation | Methods
Journal Article
COMMUNICATIONS IN COMPUTATIONAL PHYSICS, ISSN 1815-2406, 09/2019, Volume 26, Issue 3, pp. 654 - 680
We present a CUDA accelerated implementation of the Characteristic/Scan Conversion algorithm to generate narrow band signed distance fields in logically... 
CUDA | mesh generation | Signed distance field | PHYSICS, MATHEMATICAL | GPU | fluid dynamics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2016, Volume 53, Issue 9, pp. 608 - 615
Journal Article
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 7/2018, Volume 137, Issue 6, pp. 447 - 458
Journal Article
ELife, ISSN 2050-084X, 2015, Volume 4, Issue MAY, pp. e06602 - 37
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis... 
Talpid3 | Ciliopathy | High-content screen | KIAA0586 | SiRNA | Joubert syndrome | GENE | BIOLOGY | FRAMEWORK | GENERATION | REGULATORS | CILIOGENESIS | MUTATIONS | CILIA |