ArticleClinical journal of the American Society of Nephrology : CJASN2022
Guidelines for Genetic Testing and Management of Alport Syndrome.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Clinical journal of the American Society of Nephrology : CJASN, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 104 papers.
0numbers the graph read from it
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104citing papers in PubMed
10.9field-weighted citation impact, top 1% of its field
What it found
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Who cites it
104 citing papers in PubMed, 132 citations in OpenAlex.
- Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report.Molecular genetics and metabolism reports · 2026Article
- Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes.Clinical kidney journal · 2026Article
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
- Review
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Alport Syndrome Family Screening and Management: Experience of a Tertiary Center.Kidney medicine · 2026Article
- Global trends and emerging research hotspots in Alport syndrome: a comprehensive bibliometric analysis (1961-2024).Translational pediatrics · 2026Article
- mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.Kidney international reports · 2026Article
- Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025.Molecular genetics & genomic medicine · 2026Review
- Clinical practice recommendations for the management of Alport syndrome: a joint statement of the Korean Society of Nephrology and the Korean Society of Pediatric Nephrology.Kidney research and clinical practice · 2026Article
- Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review.Turkish journal of surgery · 2026Article
- Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.Kidney research and clinical practice · 2026Article
- Systematic Review of IgA Nephropathy Coexisting With Alport Syndrome.Kidney international reports · 2026Article
- Collagen IV of basement membrane: V. Bromide-mediated sulfilimine bonds interlock the quaternary structure of NC1-hexamer of scaffolds enabling metazoan evolution.The Journal of biological chemistry · 2026Article
- Genetic Testing in the Management of Adult CKD.Journal of the American Society of Nephrology : JASN · 2026Article
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- Mitochondrial DNA Analysis Should Be Considered in the Genetic Assessment of Focal Segmental Glomerulosclerosis or Unexplained Chronic Kidney Disease: A Case Report.Kidney medicine · 2026Article
- Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.Kidney medicine · 2026Article
- Collagen IV of basement membrane: V. Bromide-mediated sulfilimine bonds interlock the quaternary structure of NC1-hexamer of scaffolds enabling metazoan evolution.bioRxiv : the preprint server for biology · 2026Article
- From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing.European journal of human genetics : EJHG · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
44 authors at 20 institutions in 15 countries.
Judy SavigeDepartment of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Victoria, Australia.
Beata S Lipska-ZietkiewiczCentre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.ORCID 0000-0002-4169-9685
Elizabeth WatsonSouth West Genetic Laboratory Hub, North Bristol Trust, Bristol, United Kingdom.
Jens Michael HertzDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Constantinos DeltasCenter of Excellence in Biobanking and Biomedical Research, University of Cyprus Medical School, Nicosia, Cyprus.
Francesca MariDepartment of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.
Pascale HilbertDepartement de Biologie Moleculaire, Institute de Pathologie et de Genetique, Gosselies, Belgium.
Pavlina PlevovaDepartment of Medical Genetics, University Hospital of Ostrava, Ostrava, Czech Republic.
Peter ByersDepartment of Pathology, University of Washington, Seattle, Washington.
Agne CerkauskaiteInstitute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Martin GregoryDivision of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, Utah.
Rimante CerkauskieneClinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.ORCID 0000-0002-1971-5044
Danica Galesic LjubanovicDepartment of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia.
Francesca BecherucciNephrology Unit, Meyer Children's University Hospital, Florence, Italy.
Carmela ErrichielloNephrology Unit, Meyer Children's University Hospital, Florence, Italy.
Laura MassellaDivision of Nephrology and Dialysis, Bambino Gesù Children's Hospital, Rome, Italy.
Valeria AielloDepartment of Experimental Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
Rachel LennonWellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, United Kingdom.ORCID 0000-0001-6400-0227
Louise HopkinsonWellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, United Kingdom.ORCID 0000-0003-1758-4201
Ania KoziellSchool of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, United Kingdom.
Adrian LunguPediatric Nephrology Department, Fundeni Clinical Institute, Bucharest, Romania.
Hansjorg Martin RotheCentre for Nephrology and Metabolic Disorders, Weisswasser, Germany.
Julia HoefeleInstitute of Human Genetics, Technical University of Munich, Munich, Germany.
Miriam ZacchiaNephrology Unit, University of Campania, Naples, Italy.
Tamara Nikuseva MarticDepartment of Biology, School of Medicine University of Zagreb, Zagreb, Croatia.
Asheeta GuptaBirmingham Children's Hospital, Birmingham, United Kingdom.
Albertien van EerdeDepartment of Genetics, University Medical Center, Utrecht, The Netherlands.
Susie GearAlport UK, United Kingdom.
Samuela LandiniMedical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio," University of Florence, Florence, Italy.ORCID 0000-0001-7423-0325
Viviana PalazzoMedical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
Laith Al-RabadiHealth Sciences Centre, University of Utah, Salt Lake City, Utah.
Kathleen ClaesDepartment of Nephrology and Renal Transplantation, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
Anniek CorveleynCenter for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.
Evelien Van HoofCenter for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.
Micheel van GeelDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Maggie WilliamsBristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Southmead, United Kingdom.
Emma AshtonNorth East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, United Kingdom.
Hendica BelgeInstitut de Pathologie et de Génétique, Center for Human Genetics, Gosselies, Belgium.
Elisabet ArsMolecular Biology Laboratory, Fundacio Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autonoma de Barcelona, Instituto de Investigación Carlos III, Barcelona, Spain.ORCID 0000-0002-4118-4358
Agnieszka BierzynskaBristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, United Kingdom.
Concetta GangemiDivision of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy.
Alessandra RenieriDepartment of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.ORCID 0000-0002-0846-9220
Helen StoreyMolecular Genetics, Viapath Laboratories, Guy's Hospital, London, United Kingdom.
Frances FlinterDepartment of Clinical Genetics, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.
KU Leuven · BEMeyer Children's Hospital · ITInstitute of Pathology and Genetics · BEUniversity of Siena · ITUniversity of Utah · USUniversity of Zagreb · HRVilnius University · LTWellcome Centre for Cell-Matrix Research · GBBambino Gesù Children's Hospital · ITBirmingham Children's Hospital · GBGdańsk Medical University · PLGreat Ormond Street Hospital · GBGuy's Hospital · GBInstitutul Clinic Fundeni · ROKing's College London · GBMaastricht University · NLNational Health Service · GBNorth Bristol NHS Trust · GBOdense University Hospital · DKSouthmead Hospital · GB
Funding
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MNCATS NIH HHS UL1 TR002538
Abstract
Genetic testing for pathogenic
Indexed as
AutoantigensCollagen Type IVGenetic TestingHumansNephritis, HereditaryPractice Guidelines as TopicAutoantigensCOL4A5 protein, humanCollagen Type IVtype IV collagen alpha3 chainAlport syndromeCOL4A3COL4A4COL4A5collagen IVdigenic Alport syndromeFSGSgenetic testingkidney cyststhin basement membrane nephropathy
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.