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

Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS

Open source

DOI
10.1038/s41431-021-00858-1
Published
2021 Aug
Container
European journal of human genetics : EJHG
Publisher
Not recorded
Open access
yes

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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 = {Savige J and Storey H and Watson E and Hertz JM and Deltas C and Renieri A and Mari F and Hilbert P and Plevova P and Byers P and Cerkauskaite A and Gregory M and Cerkauskiene R and Ljubanovic DG and Becherucci F and Errichiello C and Massella L and Aiello V and Lennon R and Hopkinson L and Koziell A and Lungu A and Rothe HM and Hoefele J and Zacchia M and Martic TN and Gupta A and van Eerde A and Gear S and Landini S and Palazzo V and Al-Rabadi L and Claes K and Corveleyn A and Van Hoof E and van Geel M and Williams M and Ashton E and Belge H and Ars E and Bierzynska A and Gangemi C and Lipska-Ziętkiewicz BS},
  year = {2021},
  journal = {European journal of human genetics : EJHG},
  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  - Savige J
AU  - Storey H
AU  - Watson E
AU  - Hertz JM
AU  - Deltas C
AU  - Renieri A
AU  - Mari F
AU  - Hilbert P
AU  - Plevova P
AU  - Byers P
AU  - Cerkauskaite A
AU  - Gregory M
AU  - Cerkauskiene R
AU  - Ljubanovic DG
AU  - Becherucci F
AU  - Errichiello C
AU  - Massella L
AU  - Aiello V
AU  - Lennon R
AU  - Hopkinson L
AU  - Koziell A
AU  - Lungu A
AU  - Rothe HM
AU  - Hoefele J
AU  - Zacchia M
AU  - Martic TN
AU  - Gupta A
AU  - van Eerde A
AU  - Gear S
AU  - Landini S
AU  - Palazzo V
AU  - Al-Rabadi L
AU  - Claes K
AU  - Corveleyn A
AU  - Van Hoof E
AU  - van Geel M
AU  - Williams M
AU  - Ashton E
AU  - Belge H
AU  - Ars E
AU  - Bierzynska A
AU  - Gangemi C
AU  - Lipska-Ziętkiewicz BS
PY  - 2021
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-021-00858-1
UR  - https://doi.org/10.1038/s41431-021-00858-1
ER  -

APA

J, S., H, S., E, W., JM, H., C, D., A, R., F, M., P, H., P, P., P, B., A, C., M, G., R, C., DG, L., F, B., C, E., L, M., V, A., R, L., L, H., A, K., A, L., HM, R., J, H., M, Z., TN, M., A, G., A, V. E., S, G., S, L., V, P., L, A., K, C., A, C., E, V. H., M, V. G., M, W., E, A., H, B., E, A., A, B., C, G., & BS, L. (2021). Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-021-00858-1

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