A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure-Reference-Cited by-同舟云学术

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure

Published:2024-06-05 Issue: Volume: Page:
ISSN:1724-6059
Container-title:Journal of Nephrology
language:en
Short-container-title:J Nephrol

Author:

Beal Felicity^ORCID,Forrester Natalie,Watson Elizabeth,Williams Maggie,Buckton Andrew,Marlais Matko,Maxted Andrew, ,Bebb Charlotte,Beecroft Fiona,Burkitt Emma,Cilliers Deirdre,Dixit Abhijit,Galliford Jack,Hayes Wesley,Hillman Katherine A.,Holt Richard,Jarvis Joanna,Jones Caroline,Kamath Arveen,Kharbanda Mira,Kraus Alison,Krishnan Rajesh,Leitch Harry,Metcalfe Kay,Muorah Mordi,Plant Nicholas,Shenoy Mohan,Stuart Helen M.,Van Der Voort Judith,Wakeling Emma,Williams Denise,Woolf Adrian S.,Saleem Moin A.,Platt Caroline

Funder

Nephrotic syndrome trust

Medical Research Council

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s40620-024-01964-1.pdf

Reference30 articles.

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2. Chevalier RL (2023) CAKUT: a pediatric and evolutionary perspective on the leading cause of CKD in childhood. Pediatr Rep. 15(1):143–153. https://doi.org/10.3390/pediatric15010012

3. Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R et al (2019) The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing. Ann Intern Med 170(1):11–21. https://doi.org/10.7326/M18-1241

4. Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA et al (2019) Monogenic causes of chronic kidney disease in adults. Kidney Int 95(4):914–928. https://doi.org/10.1016/j.kint.2018.10.031

5. Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C et al (2017) Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int 92(6):1493–1506. https://doi.org/10.1016/j.kint.2017.06.013