Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
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
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
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
Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.
Rafiee M et al.
Journal of Applied Genetics, 2025
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Ibel A et al.
Biorxiv : the Preprint Server for Biology, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Adenine base editor corrected ADPKD point mutations in hiPSCs and kidney organoids.
Wang J et al.
Advanced Biotechnology, 2024
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE et al.
Kidney International Reports, 2024
Genetic testing in the evaluation of recipient candidates and living kidney donors.
Lee BK et al.
Current Opinion in Nephrology and Hypertension, 2024
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.
Yilmaz K et al.
Frontiers in Pediatrics, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male.
Stein Q et al.
Pediatric Nephrology (berlin, Germany), 2023
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing.
Lin T et al.
Journal of Assisted Reproduction and Genetics, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR et al.
Jama, 2022
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D et al.
Jhep Reports : Innovation in Hepatology, 2022
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
Yu CC et al.
Npj Genomic Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Thomas CP et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.
Hu HY et al.
Journal of Cellular and Molecular Medicine, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC et al.
European Journal of Human Genetics : Ejhg, 2021
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1.
Münch J et al.
Journal of Medical Genetics, 2020
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
Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.
Wang H et al.
American Journal of Translational Research, 2020
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Kim H et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
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
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G et al.
Kidney International, 2018
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