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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
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  Data: Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Soliman+NA%22">Soliman NA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Elmonem+MA%22">Elmonem MA</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Sayed+AF%22">El-Sayed AF</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Microbial Genetics, Biotechnology Research Institute, National Research Centre (NRC), Giza, Egypt.<br /><searchLink fieldCode="AU" term="%22Ramadan+E%22">Ramadan E</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Pharmacology and Biochemistry Department, Faculty of Pharmacy, The British University in Egypt, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Badr+AM%22">Badr AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Atia+FM%22">Atia FM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Helmy+R%22">Helmy R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Amer+MO%22">Amer MO</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Raouf+AA%22">El-Raouf AA</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Garhy+FM%22">El-Garhy FM</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Haseb+OM%22">Abdel-Haseb OM</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hassan+TM%22">Hassan TM</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Farouk+YK%22">Farouk YK</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Hosseiny+A%22">El-Hosseiny A</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Biology, American University in Cairo, New Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Bakry+U%22">Bakry U</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ali+A%22">Ali A</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Saleeb+S%22">Saleeb S</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ghanim+TA%22">Ghanim TA</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Albarbary+M%22">Albarbary M</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elmahy+A%22">Elmahy A</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elnagdy+T%22">Elnagdy T</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ragheb+A%22">Ragheb A</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hassan+WA%22">Hassan WA</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Moustafa+A%22">Moustafa A</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Department of Biology, American University in Cairo, New Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Amer+K%22">Amer K</searchLink>; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt. khaled.amer@ecrrm.ac.eg.
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