• <em>RPI-1</em> (human <em>DCDC2</em>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <em>C. elegans</em>
• A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype
• A case of Joubert syndrome caused by novel compound heterozygous variants in the <em>TMEM67</em> gene
• A case with Joubert syndrome diagnosed at an advanced age
• A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
• A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
• A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
• A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
• A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model
• ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
• Advances in treatments of patients with classical and emergent neurological toxicities of anticancer agents
• Anti-Hu Antibodies in Patients With Neurologic Side Effects of Immune Checkpoint Inhibitors
• Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
• Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
• Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
• Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome
• Case Report: Identification of likely recurrent <em>CEP290</em> mutation in a child with Joubert syndrome and cerebello-retinal-renal features
• CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
• CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum
• CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation
• Clinical and genetic analyses of Joubert syndrome in children
• Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
• Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
• Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
• Common Risk Variants in <em>AHI1</em> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
• Comparing the findings and diagnostic sensitivity of cardiovascular magnetic resonance in biopsy confirmed acute myocarditis with infarct-like vs. heart failure presentation
• Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
• Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
• Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodies
• Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
• CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side
• De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
• Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218
• Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
• Estimating the changing burden of disease attributable to alcohol use in South Africa for 2000, 2006 and 2012
• Exome Analysis Reveals Novel Missense and Deletion Variants in the <em>CC2D2A</em> Gene as Causative of Joubert Syndrome
• Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
• Expanding the Phenotype of the <em>FAM149B1</em>-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
• Expanding the Phenotypic Spectrum of Pathogenic <em>KIAA0586</em> Variants: From Joubert Syndrome to Hydrolethalus Syndrome
• Eye as the Legend of an Unknown Tale: Joubert Syndrome Masquerading as Duane Retraction Syndrome
• Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene
• Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene
• Genotype-phenotype correlates in Joubert syndrome: A review
• Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
• Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals
• High Incidence of <em>CPLANE1</em>-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
• Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome
• Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
• Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13
• Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy
• Joubert syndrome and neurofibromatosis type 1
• Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules
• Joubert syndrome presenting bilateral peroneal neuropathies: A case report
• Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290
• Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
• Joubert syndrome: a case report of neonatal presentation and early diagnosis
• Joubert syndrome: Molecular basis and treatment
• LAMA1 variants were identified Joubert syndrome patient
• Magnetic resonance imaging of Joubert syndrome associated with Dandy-Walker malformation: pathognomonic imaging
• Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
• Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
• Metabolite profiling and bioactivity of <em>Cicerbita alpina</em> (L.) Wallr. (Asteraceae, Cichorieae)
• Multiple ciliary localization signals control INPP5E ciliary targeting
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• New insights into <em>CC2D2A</em>-related Joubert syndrome
• New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
• Nocardia brain abscess mimicking tumor progression in an elderly glioblastoma patient treated with temozolomide radiochemotherapy
• Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
• Novel <em>CPLANE1</em> c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
• Novel compound heterozygous variants in ARL13B lead to Joubert syndrome
• Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
• Novel variant CPLANE 1: c.5051C&gt;A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
• Novel variants identified in five Chinese families with Joubert Syndrome: a case report
• Ocular Manifestations Leading to a Diagnosis of Joubert Syndrome Related Disorder
• Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene
• Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
• Prognostic Value of Persistent CSF Antibodies at 12 Months in Anti-NMDAR Encephalitis
• Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
• Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome"
• Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
• RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
• SOX1 antibody-related paraneoplastic neurological syndromes: clinical correlates and assessment of laboratory diagnostic techniques
• Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
• Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report an
• Syndromic ciliopathy: a taiwanese single-center study
• Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
• The expanding spectrum of antibody-associated cerebellar ataxia: report of two new cases of anti-AP3B2 ataxia
• The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
• The incidence and outcomes of high-risk acute coronary syndromes in Western Cape Province, South Africa: A prospective cohort study
• The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
• The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature
• TOPORS as a novel causal gene for Joubert syndrome
• Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant
• Using in vivo cerebellar electroporation to study neuronal cell proliferation and differentiation in a Joubert syndrome mouse model
• Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
• Visual function in children with Joubert syndrome