Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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
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
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
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D et al.
Journal of Medical Genetics, 2010
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