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Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

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Title: Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Authors: Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt. nsoliman@kasralainy.edu.eg.; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt. nsoliman@kasralainy.edu.eg.; EGORD, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt. nsoliman@kasralainy.edu.eg., Elmonem MA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Sayed AF; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Microbial Genetics, Biotechnology Research Institute, National Research Centre (NRC), Giza, Egypt., Ramadan E; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Pharmacology and Biochemistry Department, Faculty of Pharmacy, The British University in Egypt, Cairo, Egypt., Badr AM; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt.; EGORD, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt., Atia FM; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt.; EGORD, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt., Helmy R; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt.; EGORD, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt., Amer MO; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., El-Raouf AA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., El-Garhy FM; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Abdel-Haseb OM; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Hassan TM; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Farouk YK; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., El-Hosseiny A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Biology, American University in Cairo, New Cairo, Egypt., Bakry U; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Ali A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Saleeb S; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Ghanim TA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Albarbary M; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Elmahy A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Elnagdy T; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Ragheb A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Hassan WA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Moustafa A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Biology, American University in Cairo, New Cairo, Egypt., Amer K; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt. khaled.amer@ecrrm.ac.eg.
Source: Human genetics [Hum Genet] 2025 Jul; Vol. 144 (7), pp. 727-740. Date of Electronic Publication: 2025 May 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1432-1203
DOI:10.1007/s00439-025-02752-y