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American journal of human genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 651 - 656
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies... 
Genetics(clinical) | Genetics
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2016, Volume 48, Issue 6, pp. 648 - 656
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2017, Volume 127, Issue 3, pp. 1005 - 1018
Journal Article
EJHG, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 214 - 220
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative... 
Humans | Membrane Proteins/genetics | Child, Preschool | Genotype | Infant | Male | Adaptor Proteins, Signal Transducing/genetics | Genetic Counseling | Proteins/genetics | Young Adult | Eye Abnormalities/diagnosis | Retina/abnormalities | Cerebellum/abnormalities | Adolescent | Female | High-Throughput Nucleotide Sequencing | Kidney Diseases, Cystic/diagnosis | Child | Pathology, Molecular | Abnormalities, Multiple/diagnosis | CILIUM | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | BIOLOGY | INPP5E | GENETICS & HEREDITY | B9D1 | MUTATIONS | CILIOGENESIS | DIAGNOSTIC-CRITERIA | C5ORF42 | Kidney Diseases, Cystic - diagnosis | Cerebellum - abnormalities | Abnormalities, Multiple - epidemiology | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - epidemiology | Eye Abnormalities - diagnosis | Membrane Proteins - genetics | Eye Abnormalities - epidemiology | Eye Abnormalities - genetics | Proteins - genetics | Abnormalities, Multiple - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Retina - abnormalities | Brain | Pediatrics | Phenotypes | Medical imaging | Congenital defects | Intellectual disabilities | Genes | Case reports | Population studies | Neurodevelopmental disorders | Patients | Genotype & phenotype | Genetic counseling | Genotyping | Polydactyly | Genetics | Consanguinity | Mutation | Genotypes
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2019, Volume 28, Issue 1, pp. 96 - 104
Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase (GS) cause... 
Journal Article
Gastroenterology, ISSN 0016-5085, 07/2018, Volume 155, Issue 1, pp. 130 - 143.e15
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2016, Volume 53, Issue 1, pp. 62 - 72
BackgroundJoubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation ‘the molar tooth sign’. Mutations in >27 genes... 
Exons | Humans | ADP-Ribosylation Factors/metabolism | Cells, Cultured | Gene Expression Regulation | Tomography, X-Ray Computed | Proteins/genetics | Protein Transport | Eye Abnormalities/diagnosis | Magnetic Resonance Imaging | Retina/abnormalities | Brain/pathology | Animals | Fibroblasts/metabolism | Models, Biological | Cerebellum/abnormalities | Phosphoric Monoester Hydrolases/metabolism | Protein Binding | Mice | Kidney Diseases, Cystic/diagnosis | Mutation | Abnormalities, Multiple/diagnosis | Cilia/genetics | JEUNE | ARL13B | PROTEIN NETWORK | GENETICS & HEREDITY | TRAFFICKING | DISORDERS | MUTATIONS | CILIOGENESIS | ATAXIA | MECKEL-GRUBER-SYNDROME | REVEALS | Abnormalities, Multiple - metabolism | Kidney Diseases, Cystic - diagnosis | Retina - metabolism | Cerebellum - abnormalities | Kidney Diseases, Cystic - genetics | ADP-Ribosylation Factors - metabolism | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Fibroblasts - metabolism | Eye Abnormalities - diagnosis | Cilia - pathology | Cerebellum - metabolism | Eye Abnormalities - genetics | Fibroblasts - pathology | Cilia - metabolism | Cilia - genetics | Proteins - genetics | Kidney Diseases, Cystic - metabolism | Proteins - metabolism | Abnormalities, Multiple - diagnosis | Retina - abnormalities | Brain - pathology | Phosphoric Monoester Hydrolases - metabolism | Research | Gene mutations | Genetic regulation | Joubert syndrome | MKS1 | cilia | ciliopathy | transition zone
Journal Article