Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
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| Title: | Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. |
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| Authors: | Savige J; Department of Medicine (MH and NH), The University of Melbourne, Parkville, VIC, Australia. jasavige@unimelb.edu.au., Storey H; Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, UK., Watson E; Elizabeth Watson, South West Genomic Laboratory Hub, North Bristol Trust, Bristol, UK., Hertz JM; Jens Michael Hertz, Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Deltas C; Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center, University of Cyprus, Nicosia, Cyprus., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Mari F; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium., Hilbert P; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium., Plevova P; Department of Medical Genetics, and Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic., Byers P; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA., Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Gregory M; Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, UT, USA., Cerkauskiene R; Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Ljubanovic DG; Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia., Becherucci F; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy., Errichiello C; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy., Massella L; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Aiello V; Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy., Lennon R; Wellcome 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, UK., Hopkinson L; Wellcome 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, UK., Koziell A; School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, UK., Lungu A; Fundeni Clinical Institute, Pediatric Nephrology Department, Bucharest, Romania., Rothe HM; Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany., Hoefele J; Institute of Human Genetics, Technical University of Munich, München, Germany., Zacchia M; Nephrology Unit, University of Campania, Naples, Italy., Martic TN; Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia., Gupta A; Birmingham Children's Hospital, Birmingham, UK., van Eerde A; Departments of Genetics and Center for Molecular Medicine, University Medical Center, Utrecht University, Utrecht, The Netherlands., Gear S; Alport UK, Gloucester, UK., Landini S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Al-Rabadi L; Health Sciences Centre, University of UTAH, Salt Lake City, UT, USA., Claes K; Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Leuven, Belgium., Corveleyn A; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium., Van Hoof E; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium., van Geel M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Williams M; Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Bristol, UK., Ashton E; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK., Belge H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ars E; Inherited Kidney Disorders, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Bierzynska A; Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK., Gangemi C; Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy., Lipska-Ziętkiewicz BS; Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug; Vol. 29 (8), pp. 1186-1197. Date of Electronic Publication: 2021 Apr 15. |
| Publication Type: | Journal Article; Consensus Statement |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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