Genes and Diseases (Mar 2025)
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
- Ronen Schneider,
- Shirlee Shril,
- Florian Buerger,
- Konstantin Deutsch,
- Kirollos Yousef,
- Camille N. Frank,
- Ana C. Onuchic-Whitford,
- Thomas M. Kitzler,
- Youying Mao,
- Verena Klämbt,
- Muhammad Y. Zahoor,
- Katharina Lemberg,
- Amar J. Majmundar,
- Bshara Mansour,
- Ken Saida,
- Steve Seltzsam,
- Caroline M. Kolvenbach,
- Lea Maria Merz,
- Nils D. Mertens,
- Tobias Hermle,
- Nina Mann,
- Dalia Pantel,
- Abdul A. Halawi,
- Aaron Bao,
- Luca Schierbaum,
- Sophia Schneider,
- Daanya Salmanullah,
- Iddo Z. Ben-Dov,
- Itamar Sagiv,
- Loai A. Eid,
- Hazem Subhi H. Awad,
- Muna Al Saffar,
- Neveen A. Soliman,
- Marwa M. Nabhan,
- Jameela A. Kari,
- Sherif El Desoky,
- Mohamed A. Shalaby,
- Said Ooda,
- Hanan M. Fathy,
- Shrikant Mane,
- Richard P. Lifton,
- Michael J.G. Somers,
- Friedhelm Hildebrandt
Affiliations
- Ronen Schneider
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Shirlee Shril
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Florian Buerger
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Konstantin Deutsch
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Kirollos Yousef
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Camille N. Frank
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Ana C. Onuchic-Whitford
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Renal Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Thomas M. Kitzler
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Youying Mao
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Verena Klämbt
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Muhammad Y. Zahoor
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore 54000, Pakistan
- Katharina Lemberg
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Amar J. Majmundar
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Bshara Mansour
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Ken Saida
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Steve Seltzsam
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Caroline M. Kolvenbach
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn D-53113, Germany
- Lea Maria Merz
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, University Hospital Leipzig, Leipzig 04103, Germany
- Nils D. Mertens
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Tobias Hermle
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Nina Mann
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Dalia Pantel
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Institute of Human Genetics, Heidelberg University, Heidelberg 69117, Germany
- Abdul A. Halawi
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Aaron Bao
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Luca Schierbaum
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Sophia Schneider
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Daanya Salmanullah
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
- Iddo Z. Ben-Dov
- Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel
- Itamar Sagiv
- Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel
- Loai A. Eid
- Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates
- Hazem Subhi H. Awad
- Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates
- Muna Al Saffar
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates
- Neveen A. Soliman
- Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt; Egyptian Group for Orphan Renal Diseases (EGORD), Cairo 11451, Egypt
- Marwa M. Nabhan
- Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
- Jameela A. Kari
- Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
- Sherif El Desoky
- Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
- Mohamed A. Shalaby
- Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
- Said Ooda
- Experimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria 21511, Egypt
- Hanan M. Fathy
- Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt
- Shrikant Mane
- Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA
- Richard P. Lifton
- Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA
- Michael J.G. Somers
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Corresponding author.
- Friedhelm Hildebrandt
- Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Corresponding author. Division of Nephrology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
- Journal volume & issue
-
Vol. 12,
no. 2
p. 101280