Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
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
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.
Felker SA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.
Hu HY et al.
Journal of Cellular and Molecular Medicine, 2021
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Kim H et al.
Scientific Reports, 2019
31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
Pandita S et al.
Journal of Human Genetics, 2019
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrézet MP et al.
Human Mutation, 2012
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