Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome

(2022) Hongjun Fei et al.   Molecular Genetics & Genomic Medicine

Genotype–phenotype correlates in Joubert syndrome: A review

(2022) Simone Gana et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

(2022) Kento Matoba et al.   Neurology-Genetics

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

(2021) Xiujuan Zhang et al.   Molecular Genetics & Genomic Medicine

Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia

(2021) Haiyan Zhu et al.   European Journal of Medical Genetics

Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome

(2021) Cheng Zhang et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

(2020) Akella Radha Rama Devi et al.   PEDIATRIC NEUROLOGY

Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome

(2020) Qiuyan Liu et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

A novel variant in C5ORF42 gene is associated with Joubert syndrome

(2020) Rajab Mardani et al.   MOLECULAR BIOLOGY REPORTS

Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis

(2019) Hyowon Hong et al.   ANNALS OF NEUROLOGY

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement

(2019) Justin R. Bourgeois et al.   DEVELOPMENTAL BIOLOGY

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

(2018) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutations in the ciliopathy-associated gene CPLANE1 ( C5orf42 ) cause OFD syndrome type VI rather than Joubert syndrome

(2018) Carine Bonnard et al.   European Journal of Medical Genetics

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

(2018) Anna Strongin et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

(2018) Sara Nuovo et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Review of Ocular Manifestations of Joubert Syndrome

(2018) Stephanie F. Wang et al.   Genes

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

(2017) Andrea Poretti et al.   JOURNAL OF MEDICAL GENETICS

Cilium assembly and disassembly

(2016) Irma Sánchez et al.   NATURE CELL BIOLOGY

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

(2016) Michinori Toriyama et al.   NATURE GENETICS

CDD/SPARCLE: functional classification of proteins via subfamily domain architectures

(2016) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

(2015) Rama Rao Damerla et al.   HUMAN MOLECULAR GENETICS

Tectonic gene mutations in patients with Joubert syndrome

(2014) Peter Huppke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

(2014) Marta Romani et al.   HUMAN GENETICS

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION