Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Genes Dis. 2024 Mar 28;12(2):101280.
doi: 10.1016/j.gendis.2024.101280.
eCollection 2025 Mar.
1 Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
2 Division of Renal Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
3 Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore 54000, Pakistan.
4 Institute of Anatomy, Medical Faculty, University of Bonn, Bonn D-53113, Germany.
5 Department of Pediatrics, University Hospital Leipzig, Leipzig 04103, Germany.
6 Institute of Human Genetics, Heidelberg University, Heidelberg 69117, Germany.
7 Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.
8 Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates.
9 Department of Pediatrics, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates.
10 Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.
11 Egyptian Group for Orphan Renal Diseases (EGORD), Cairo 11451, Egypt.
12 Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
13 Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia.
14 Experimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria 21511, Egypt.
15 Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt.
16 Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.