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
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D et al.
Jhep Reports : Innovation in Hepatology, 2022
36246085 (PubMed )
Supplement: mmc1.pdf
Molecular genetics of renal ciliopathies.
Barroso-Gil M et al.
Biochemical Society Transactions, 2021
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