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JAMA Ophthalmology, ISSN 2168-6165, 09/2014, Volume 132, Issue 9, p. 1153
Journal Article
Journal Article
Journal Article
Lancet, The, ISSN 0140-6736, 2017, Volume 389, pp. S14 - S14
Abstract Background Over the past 5 years, exome sequencing and whole-genome sequencing have been extensively used to identify genes underlying rare mendelian... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Genetic research | Genetic aspects | Genomes | Genes | Genomics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 321 - 329
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 948 - 954
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 | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2012, Volume 154, Issue 6, pp. 987 - 1001.e1
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2019, Volume 103, Issue 4, pp. 504 - 510
Mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. Ocular complications (such as corneal clouding, retinopathy and optic... 
vision | Cornea | genetics | retina | imaging | OPHTHALMOLOGY | CELL TRANSPLANTATION | THERAPY | OPTICAL COHERENCE TOMOGRAPHY | SPECTRAL-DOMAIN | MANIFESTATIONS | Genotype & phenotype | Enzymes | Medical imaging | Transplants & implants | Stem cells | Biomarkers | Chondroitin sulfate | Gene therapy | Metabolism | Patients | Age | Astigmatism
Journal Article