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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
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 426 - 430
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 922 - 932
We describe an X-linked genetic syndrome associated with mutations in and manifesting with global developmental delay, intellectual disability (ID),... 
transcription | abnormal gait | dystonia | developmental delay | facial dysmorphology | neurologic features | intellectual disability | intergluteal crease | TAF1 | COMPLEX | CORNELIA | GENE | TRANSCRIPTION | GENETICS & HEREDITY | NEURON-SPECIFIC ISOFORM | PHENOTYPE | DE-LANGE-SYNDROME | MUTATIONS | EXPRESSION | BINDING | TATA-Binding Protein Associated Factors - metabolism | Developmental Disabilities - metabolism | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Infant | Male | Developmental Disabilities - genetics | Transcription Factor TFIID - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Inheritance Patterns | Transcription Factor TFIID - genetics | Young Adult | Developmental Disabilities - pathology | Histone Acetyltransferases - metabolism | Facies | Child | Disease Models, Animal | Neurodegenerative Diseases - pathology | Signal Transduction | Gene Expression Regulation | Intellectual Disability - pathology | Neurodegenerative Diseases - genetics | Zebrafish | Neurodegenerative Diseases - metabolism | TATA-Binding Protein Associated Factors - genetics | E-Box Elements | Phenotype | Animals | Pedigree | Adolescent | Family | Mutation | Causes of | Neurologic manifestations of general diseases | Genetic aspects | Genetic variation | Health aspects | Mental retardation | Proteins | Families & family life | Genotype & phenotype | Genes | Index Medicus | Report
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2006, Volume 43, Issue 5, pp. 385 - 393
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia ( DCMA) syndrome, has been identified in the Canadian Dariusleut... 
TRANSLOCASE | COCHAPERONE | MCJ GENE | GENETICS & HEREDITY | MENTAL DEFICIENCY | 3-METHYLGLUTACONIC ACIDURIA | OVARIAN-CANCER | TIM23 | DYSTONIA | IDENTIFICATION | PROTEIN IMPORT MOTOR | Genetic Testing | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Mitochondrial Proteins - genetics | Mitochondrial Membrane Transport Proteins | Membrane Transport Proteins - genetics | Mitochondrial Proteins - metabolism | Adult | Cardiomyopathy, Dilated - diagnosis | Female | Membrane Transport Proteins - metabolism | Ataxia - genetics | Child | Abnormalities, Multiple - genetics | Microsatellite Repeats | Cardiomyopathy, Dilated - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Canada - ethnology | Chromosome Mapping | Ataxia - diagnosis | Syndrome | Membrane Transport Proteins - chemistry | Sequence Alignment | Pedigree | Abnormalities, Multiple - diagnosis | Adolescent | Mitochondrial Proteins - chemistry | Consanguinity | Genome, Human | Causes of | Ataxia | Genetic aspects | Research | Gene mutations | Cardiomyopathy, Dilated | Haplotypes | Medical research | Yeast | Cardiomyopathy | Intellectual disabilities | Genes | Genomes | Data bases | Defects | Proteins | Hospitals | Rodents | Phenols | Population | Mutation | Genetic testing | Deoxyribonucleic acid--DNA | Index Medicus | 3‐methylglutaconic aciduria | Original | mitochondrial protein import | dilated cardiomyopathy
Journal Article
Journal of Heart and Lung Transplantation, ISSN 1053-2498, 2015, Volume 34, Issue 4, pp. S329 - S330
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 01/2014, Volume 41, Issue 1, pp. 88 - 89
Journal Article