• <em>NPHP1</em>-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
• <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 of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide
• A case with Joubert syndrome diagnosed at an advanced age
• A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
• A new case of Melnick-Needles syndrome with skeletal manifestations: A case report
• A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
• A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome
• A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
• ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
• An early onset cone dystrophy due to CEP290 mutation: a case report
• Analysis of CT and MRI Manifestations of Joubert Syndrome
• Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
• Capillary Hemangioma in Joubert Syndrome: A Case Report
• Case Report: Identification of likely recurrent <em>CEP290</em> mutation in a child with Joubert syndrome and cerebello-retinal-renal features
• CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation
• Clinical and genetic analyses of Joubert syndrome in children
• Clinical and genetic characteristics of 36 children with Joubert syndrome
• Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation
• Common Risk Variants in <em>AHI1</em> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
• Cystic Diseases of the Kidneys: From Bench to Bedside
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
• Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218
• Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice
• Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
• Establishment of Cardiac Laterality
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
• Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene
• High Incidence of <em>CPLANE1</em>-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
• High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
• Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy
• Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
• Identification of novel <em>TMEM231</em> gene splice variants and pathological findings in a fetus with Meckel Syndrome
• Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13
• Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach
• Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy
• 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 Presenting with Levodopa Responsive Parkinsonism
• Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
• Joubert syndrome: a case report of neonatal presentation and early diagnosis
• Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy
• Nephronophthisis: a pathological and genetic perspective
• Neuroanatomy of autism: what is the role of the cerebellum?
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• 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 compound heterozygous variants in ARL13B lead to Joubert syndrome
• Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene's pathogenic mechanism
• Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
• Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene
• 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
• Open isthmus and lambda (lambda) sign of early Joubert syndrome: elucidating development of molar tooth sign
• Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
• Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology
• Pontine tegmental cap dysplasia: the role of diffusion tensor imaging
• Prenatal diagnosis of Joubert syndrome: A case report
• Preoperative Nasobiliary Drainage as a Predictor of Response Before Surgical Fistula Creation in Joubert Syndrome With Refractory Cholestatic Pruritis
• Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
• Radiological features of Joubert syndrome and clinical case presentation
• Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders
• Retinitis Pigmentosa Sine Pigmento in a Patient With a Heterozygous Mutation on the KIF7 Gene: A Case Report
• RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
• Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
• Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
• Structurally divergent and recurrently mutated regions of primate genomes
• Syndromic ciliopathy: a taiwanese single-center study
• The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort
• 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
• Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
• Visual function in children with Joubert syndrome