Associated Papers
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F et al.
European Journal of Human Genetics : Ejhg, 2025
39394465 (PubMed )
Supplement: 41431_2024_1703_MOESM1_ESM.pdf
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 2024
New insights into CC2D2A-related Joubert syndrome.
Harion M et al.
Journal of Medical Genetics, 2023
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Lam Z et al.
Clinical Dysmorphology, 2020
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C et al.
Clinical Genetics, 2019
Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
Xiao D et al.
Molecular Medicine Reports, 2017
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R et al.
Journal of Medical Genetics, 2012
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT et al.
American Journal of Human Genetics, 2008
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