换一批Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
第一作者：
Judy,Savige
第一单位：
Department of Medicine (MH and NH), The University of Melbourne, Parkville, VIC, Australia. jasavige@unimelb.edu.au.
作者：
Judy,Savige [1]
;
Helen,Storey [2]
;
Elizabeth,Watson [3]
;
Jens Michael,Hertz [4]
;
Constantinos,Deltas [5]
;
Alessandra,Renieri [6]
;
Francesca,Mari [7]
;
Pascale,Hilbert [7]
;
Pavlina,Plevova [8]
;
Peter,Byers [9]
;
Agne,Cerkauskaite [10]
;
Martin,Gregory [11]
;
Rimante,Cerkauskiene [12]
;
Danica Galesic,Ljubanovic [13]
;
Francesca,Becherucci [14]
;
Carmela,Errichiello [14]
;
Laura,Massella [15]
;
Valeria,Aiello [16]
;
Rachel,Lennon [17]
;
Louise,Hopkinson [17]
;
Ania,Koziell [18]
;
Adrian,Lungu [19]
;
Hansjorg Martin,Rothe [20]
;
Julia,Hoefele [21]
;
Miriam,Zacchia [22]
;
Tamara Nikuseva,Martic [23]
;
Asheeta,Gupta [24]
;
Albertien,van Eerde [25]
;
Susie,Gear [26]
;
Samuela,Landini [27]
;
Viviana,Palazzo [28]
;
Laith,Al-Rabadi [29]
;
Kathleen,Claes [30]
;
Anniek,Corveleyn [31]
;
Evelien,Van Hoof [31]
;
Micheel,van Geel [32]
;
Maggie,Williams [33]
;
Emma,Ashton [34]
;
Hendica,Belge [35]
;
Elisabeth,Ars [36]
;
Agnieszka,Bierzynska [37]
;
Concetta,Gangemi [38]
;
Beata S,Lipska-Ziętkiewicz [39]
作者单位：
Department of Medicine (MH and NH), The University of Melbourne, Parkville, VIC, Australia. jasavige@unimelb.edu.au.
[1]
Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, UK.
[2]
Elizabeth Watson, South West Genomic Laboratory Hub, North Bristol Trust, Bristol, UK.
[3]
Jens Michael Hertz, Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[4]
Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center, University of Cyprus, Nicosia, Cyprus.
[5]
Medical Genetics, University of Siena, Siena, Italy.
[6]
Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium.
[7]
Department of Medical Genetics, and Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic.
[8]
Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.
[9]
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
[10]
Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, UT, USA.
[11]
Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
[12]
Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia.
[13]
Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy.
[14]
Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[15]
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
[16]
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.
[17]
School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, UK.
[18]
Fundeni Clinical Institute, Pediatric Nephrology Department, Bucharest, Romania.
[19]
Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany.
[20]
Institute of Human Genetics, Technical University of Munich, München, Germany.
[21]
Nephrology Unit, University of Campania, Naples, Italy.
[22]
Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia.
[23]
Birmingham Children's Hospital, Birmingham, UK.
[24]
Departments of Genetics and Center for Molecular Medicine, University Medical Center, Utrecht University, Utrecht, The Netherlands.
[25]
Alport UK, Gloucester, UK.
[26]
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
[27]
Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
[28]
Health Sciences Centre, University of UTAH, Salt Lake City, UT, USA.
[29]
Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Leuven, Belgium.
[30]
Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium.
[31]
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
[32]
Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Bristol, UK.
[33]
North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK.
[34]
Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[35]
Inherited Kidney Disorders, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.
[36]
Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK.
[37]
Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy.
[38]
Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
[39]
DOI
10.1038/s41431-023-01288-x
PMID
36721056
发布时间
2024-01-10
- 浏览2
European journal of human genetics
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