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

Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien 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, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz

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DOI: 10.1038/s41431-021-00858-1
Published: 2021-04-15
Container: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-021-00858-1,
  title = {Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria},
  author = {Judy Savige and Helen Storey and Elizabeth Watson and Jens Michael Hertz and Constantinos Deltas and Alessandra Renieri and Francesca Mari and Pascale Hilbert and Pavlina Plevova and Peter Byers and Agne Cerkauskaite and Martin Gregory and Rimante Cerkauskiene and Danica Galesic Ljubanovic and Francesca Becherucci and Carmela Errichiello and Laura Massella and Valeria Aiello and Rachel Lennon and Louise Hopkinson and Ania Koziell and Adrian Lungu and Hansjorg Martin Rothe and Julia Hoefele and Miriam Zacchia and Tamara Nikuseva Martic and Asheeta Gupta and Albertien van Eerde and Susie Gear and Samuela Landini and Viviana Palazzo and Laith al-Rabadi and Kathleen Claes and Anniek Corveleyn and Evelien Van Hoof and Micheel van Geel and Maggie Williams and Emma Ashton and Hendica Belge and Elisabeth Ars and Agnieszka Bierzynska and Concetta Gangemi and Beata S. Lipska-Ziętkiewicz},
  year = {2021},
  journal = {European Journal of Human Genetics},
  doi = {10.1038/s41431-021-00858-1},
  url = {https://doi.org/10.1038/s41431-021-00858-1}
}

RIS

TY  - JOUR
TI  - Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
AU  - Judy Savige
AU  - Helen Storey
AU  - Elizabeth Watson
AU  - Jens Michael Hertz
AU  - Constantinos Deltas
AU  - Alessandra Renieri
AU  - Francesca Mari
AU  - Pascale Hilbert
AU  - Pavlina Plevova
AU  - Peter Byers
AU  - Agne Cerkauskaite
AU  - Martin Gregory
AU  - Rimante Cerkauskiene
AU  - Danica Galesic Ljubanovic
AU  - Francesca Becherucci
AU  - Carmela Errichiello
AU  - Laura Massella
AU  - Valeria Aiello
AU  - Rachel Lennon
AU  - Louise Hopkinson
AU  - Ania Koziell
AU  - Adrian Lungu
AU  - Hansjorg Martin Rothe
AU  - Julia Hoefele
AU  - Miriam Zacchia
AU  - Tamara Nikuseva Martic
AU  - Asheeta Gupta
AU  - Albertien van Eerde
AU  - Susie Gear
AU  - Samuela Landini
AU  - Viviana Palazzo
AU  - Laith al-Rabadi
AU  - Kathleen Claes
AU  - Anniek Corveleyn
AU  - Evelien Van Hoof
AU  - Micheel van Geel
AU  - Maggie Williams
AU  - Emma Ashton
AU  - Hendica Belge
AU  - Elisabeth Ars
AU  - Agnieszka Bierzynska
AU  - Concetta Gangemi
AU  - Beata S. Lipska-Ziętkiewicz
PY  - 2021
JO  - European Journal of Human Genetics
DO  - 10.1038/s41431-021-00858-1
UR  - https://doi.org/10.1038/s41431-021-00858-1
ER  -

APA

Savige, J., Storey, H., Watson, E., Hertz, J. M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., Lungu, A., Rothe, H. M., Hoefele, J., Zacchia, M., Martic, T. N., Gupta, A., Eerde, A. V., Gear, S., Landini, S., Palazzo, V., al-Rabadi, L., Claes, K., Corveleyn, A., Hoof, E. V., Geel, M. V., Williams, M., Ashton, E., Belge, H., Ars, E., Bierzynska, A., Gangemi, C., & Lipska-Ziętkiewicz, B. S. (2021). Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. European Journal of Human Genetics. https://doi.org/10.1038/s41431-021-00858-1

Source records

crossref · retrieved 2026-11-10T13:45:58.387Z