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Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.
Elmubarak I, Shril S, Mansour B, Bao A, Kolvenbach C, Desoky SE, Shalaby M, Kari J, Hildebrandt F, Schneider R. Elmubarak I, et al. Among authors: desoky se. Res Sq [Preprint]. 2024 Apr 11:rs.3.rs-4183332. doi: 10.21203/rs.3.rs-4183332/v1. Res Sq. 2024. Update in: Pediatr Nephrol. 2024 Oct;39(10):2939-2945. doi: 10.1007/s00467-024-06426-1 PMID: 38659911 Free PMC article. Updated. Preprint.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pantel D, Mertens ND, Schneider R, Hölzel S, Kari JA, Desoky SE, Shalaby MA, Lim TY, Sanna-Cherchi S, Shril S, Hildebrandt F. Pantel D, et al. Among authors: desoky se. Pediatr Nephrol. 2024 Feb;39(2):455-461. doi: 10.1007/s00467-023-06134-2. Epub 2023 Sep 5. Pediatr Nephrol. 2024. PMID: 37670083 Free PMC article.