Associated Papers
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Zheng Y et al.
Prenatal Diagnosis, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M3
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-1.xlsx › M3
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
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