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Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2007, Volume 117, Issue 8, pp. 2260 - 2267
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
Nature Genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 999 - 1001
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2018, Volume 26, Issue 11, pp. 1566 - 1571
Clinical application of whole-exome and whole-genome sequencing (WES and WGS) has led to an increasing interest in how it could drive healthcare decisions. As... 
GENOMICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | PEDIATRIC NEUROLOGY | UTILITY | SUSPECTED MONOGENIC DISORDERS | NEXT-GENERATION | CHILDREN | Costs | Next-generation sequencing | Medical innovations | Medical records | Genomes | Diagnosis | Patients | Genetic screening
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2017, Volume 32, Issue suppl_3, pp. iii76 - iii76
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2018, Volume 27, Issue 3, pp. 529 - 545
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and NAAF1 mutations cause primary ciliary dyskinesia... 
HETEROTAXY | DEFECTS | PROTEIN | VARIANTS | AXONEMAL DYNEINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DYSKINESIA | DISEASE | GENETICS & HEREDITY | DISORDERS | LEFT-RIGHT ASYMMETRY | MUTATIONS
Journal Article
Human molecular genetics, ISSN 0964-6906, 2016, Volume 25, Issue 11, pp. 2158 - 2167
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity...