Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC, Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center

Open source

DOI
10.1681/asn.0000000613
Published
2025 Jun 1
Container
Journal of the American Society of Nephrology : JASN
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1681/asn.0000000613,
  title = {Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.},
  author = {Jawaid T and Elbarougy DE and Lavu S and Buia G and Senum SR and Olinger E and Yang H and McDonnell SK and Bublitz JT and Ma J and Audrézet MP and Madsen CD and Schauer RS and Baker TA and Gregory AV and Orr SE and Barroso-Gil M and Neatu R and Joli G and Dahl NK and Kline TL and Gillion V and Dahan K and Jouret F and Perrone RD and Steinman TI and Peters DJM and Gitomer BY and Watnick TJ and Coto E and Chebib FT and Hogan MC and Olson JE and Larson NB and Ars E and Halbritter J and Demoulin N and Torres VE and Sayer JA and Cornec-Le Gall E and Harris PC and Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center},
  year = {2025},
  journal = {Journal of the American Society of Nephrology : JASN},
  doi = {10.1681/asn.0000000613},
  url = {https://doi.org/10.1681/asn.0000000613}
}

RIS

TY  - JOUR
TI  - Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
AU  - Jawaid T
AU  - Elbarougy DE
AU  - Lavu S
AU  - Buia G
AU  - Senum SR
AU  - Olinger E
AU  - Yang H
AU  - McDonnell SK
AU  - Bublitz JT
AU  - Ma J
AU  - Audrézet MP
AU  - Madsen CD
AU  - Schauer RS
AU  - Baker TA
AU  - Gregory AV
AU  - Orr SE
AU  - Barroso-Gil M
AU  - Neatu R
AU  - Joli G
AU  - Dahl NK
AU  - Kline TL
AU  - Gillion V
AU  - Dahan K
AU  - Jouret F
AU  - Perrone RD
AU  - Steinman TI
AU  - Peters DJM
AU  - Gitomer BY
AU  - Watnick TJ
AU  - Coto E
AU  - Chebib FT
AU  - Hogan MC
AU  - Olson JE
AU  - Larson NB
AU  - Ars E
AU  - Halbritter J
AU  - Demoulin N
AU  - Torres VE
AU  - Sayer JA
AU  - Cornec-Le Gall E
AU  - Harris PC
AU  - Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center
PY  - 2025
JO  - Journal of the American Society of Nephrology : JASN
DO  - 10.1681/asn.0000000613
UR  - https://doi.org/10.1681/asn.0000000613
ER  -

APA

T, J., DE, E., S, L., G, B., SR, S., E, O., H, Y., SK, M., JT, B., J, M., MP, A., CD, M., RS, S., TA, B., AV, G., SE, O., M, B., R, N., G, J., NK, D., TL, K., V, G., K, D., F, J., RD, P., TI, S., DJM, P., BY, G., TJ, W., E, C., FT, C., MC, H., JE, O., NB, L., E, A., J, H., N, D., VE, T., JA, S., E, C. G., PC, H., & Center, G. E. R. C. U. B. H. P. D. T. P. G. S. M. C. B. A. R. G. (2025). Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.. Journal of the American Society of Nephrology : JASN. https://doi.org/10.1681/asn.0000000613

Source records