Invitae - Invitae Ciliopathies Panel - Clinical Description - Page 1
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy | SpringerLink
Characterizing the morbid genome of ciliopathies | Genome Biology | Full Text
Frontiers | The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
MEDICAL BACKGROUND – NEOCYST
Ciliopathy Alliance - Research Update
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways: Cell
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project | Journal of Medical Genetics
Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies - ScienceDirect
Nephronophthisis and Related Ciliopathies | SpringerLink
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses | Journal of Human Genetics
Frontiers | On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
NIH researchers develop gene therapy for rare ciliopathy | National Eye Institute
Clinical and genetic heterogeneity of primary ciliopathies (Review)
Ciliopathies Gene Panel
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes | Scientific Reports
Circos image showing the different ciliopathy disorders in relation to... | Download Scientific Diagram
Frontiers | Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Clinical and genetic heterogeneity of primary ciliopathies (Review)
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses | Journal of Human Genetics
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies | Scientific Reports
Motile ciliopathies | Nature Reviews Disease Primers
Frontiers Publishing Partnerships | Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel - JMG Contact blog
