Associated Papers
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.
Sentell ZT et al.
European Journal of Human Genetics : Ejhg, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
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
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
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
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C et al.
Clinical Genetics, 2019
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH et al.
Journal of Medical Genetics, 2016
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
Bachmann-Gagescu R et al.
Plos Genetics, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R et al.
Journal of Medical Genetics, 2015
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
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