ArticleFrontiers in genetics2020
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.
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Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.Global medical genetics · 2026Review
- Association of 24-hour urinary parameters with renal function and other comorbidities in autosomal dominant polycystic kidney disease.BMC nephrology · 2026Article
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.Renal failure · 2025Article
- Molecular pathology and cystogenic propensity of the ADPKD Taiwan founder variant.JCI insight · 2025Article
- ADPKD Progression by Variant Type and Molecular Domain Among Participants in the HALT PKD Trial.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.BMC medical genomics · 2025Article
- The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.Clinical kidney journal · 2025Article
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
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- Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.Function (Oxford, England) · 2024Article
- The Impact of Autosomal Dominant Polycystic Kidney Disease in Children: A Nephrological, Nutritional, and Psychological Point of View.Biomedicines · 2024Review
- Monoallelic pathogenicClinical kidney journal · 2024Article
- Long read sequencing on its way to the routine diagnostics of genetic diseases.Frontiers in genetics · 2024Review
- Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.Genes · 2023Article
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Authors and funding
21 authors.
Vilma MantovaniMedical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Sofia BinCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Claudio GrazianoMedical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Irene CapelliNephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
Raffaella MinardiCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Valeria AielloNephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
Enrico AmbrosiniMedical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Carlotta Pia CristalliCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Alessandro MattiaccioCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Milena ParialiCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Sara De FantiDepartment of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Flavio FaletraMedical Genetics Unit, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Enrico GrossoMedical Genetics Unit, AOU Città della Salute e della Scienza, Turin, Italy.
Rachele CantoneMedical Genetics Unit, AOU Città della Salute e della Scienza, Turin, Italy.
Elena ManciniNephrology, Dialysis and Hypertension Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Francesca MencarelliPediatrics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Andrea PasiniPediatrics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Anita WischmeijerClinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
Nicola SciasciaRadiology Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Marco SeriCenter for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
Gaetano La MannaNephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
Funding
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Abstract
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Indexed as
ADPKDcystogenesNGSPKD1PKD2polycystic kidney disease
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