Associated Papers
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.
Varughese S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2026
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
40677324 (PubMed )
Supplement: mmc1.pdf
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
Elhassan EAE et al.
Journal of Nephrology, 2025
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 2024
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE et al.
Kidney International Reports, 2024
38481516 (PubMed )
Supplement: mmc1.pdf
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Dahl NK et al.
Journal of the American Society of Nephrology : Jasn, 2023
37794564 (PubMed )
Supplement: jasn-34-2039-s001.pdf
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34429528 (PubMed )
Supplement: EMS138012-supplement-Table_S3.xlsx › Sheet1
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