Associated Papers
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2015
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L et al.
American Journal of Human Genetics, 2011
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