Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Chen EWC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
38224954 (PubMed )
Supplement: gfad270_supplemental_file.pdf
Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.
Al Alawi I et al.
Oman Medical Journal, 2024
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H et al.
Clinical Kidney Journal, 2023
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
Yu CC et al.
Npj Genomic Medicine, 2022
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
The genetic landscape of polycystic kidney disease in Ireland.
Benson KA et al.
European Journal of Human Genetics : Ejhg, 2021
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I et al.
Kidney International Reports, 2019
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali H et al.
Scientific Reports, 2019
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
European Journal of Human Genetics : Ejhg, 2016
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
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