# Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/consensus-statement-on-standards-and-guidelines-for-the-molecular-diagnostics-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Judy Savige,Helen Storey,E. Watson,Jens Michael Hertz,Constantinos Deltas,Alessandra Renieri,Francesca Mari,Pascale Hilbert,Pavlína Plevová,Peter H. Byers,Agnė Čerkauskaitė,Martin C. Gregory,Rimantė Čerkauskienė,Danica Galešić Ljubanović,Francesca Becherucci,Carmela Errichiello,Laura Massella,Valeria Aiello,Rachel Lennon,Louise Hopkinson,Ania Koziell,Adrian Lungu,H. Rothe,Julia Hoefele,Miriam Zacchia,Tamara Nikuševa Martić,Asheeta Gupta,Albertien M. van Eerde,Susie Gear,Samuela Landini,Viviana Palazzo,Laith Al‐Rabadi,Kathleen Claes,Anniek Corveleyn,Evelien Van Hoof,Micheel van Geel,Maggie Williams,Emma Ashton,Hendica Belge,Elisabet Ars,Agnieszka Bierżyńska,Concetta Gangemi,Beata S. Lipska‐Ziętkiewicz |
| Citations | 129 |
| DOI | 10.1038/s41431-021-00858-1 |
| Fields | Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://www.nature.com/articles/s41431-021-00858-1.pdf |
| OpenAlex ID | https://openalex.org/W3155284236 |
| PMID | 33854215 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Pavlína Plevová](https://scholariq.org/researchers/pavlina-plevova/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Cell Adhesion Molecules Research](https://scholariq.org/topics/cell-adhesion-molecules-research/)

## Paper topics

- [Cell Adhesion Molecules Research](https://scholariq.org/topics/cell-adhesion-molecules-research/)
- [Platelet Disorders and Treatments](https://scholariq.org/topics/platelet-disorders-and-treatments/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.