ArticleGenes & diseases2025
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.
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Article in Genes & diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4citing papers in PubMed
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Who cites it
4 citing papers in PubMed.
- Article
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.Pediatric nephrology (Berlin, Germany) · 2024Article
Corrections and comments
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Authors and funding
43 authors.
Ronen SchneiderDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Shirlee ShrilDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Florian BuergerDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Konstantin DeutschDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Kirollos YousefDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Camille N FrankDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Ana C Onuchic-WhitfordDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Thomas M KitzlerDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Youying MaoDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Verena KlämbtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Muhammad Y ZahoorDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Katharina LembergDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Amar J MajmundarDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Bshara MansourDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Ken SaidaDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Steve SeltzsamDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Caroline M KolvenbachDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Lea Maria MerzDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Nils D MertensDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Tobias HermleDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Nina MannDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Dalia PantelDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Abdul A HalawiDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Aaron BaoDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Luca SchierbaumDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Sophia SchneiderDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Daanya SalmanullahDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Iddo Z Ben-DovDepartment of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Itamar SagivDepartment of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Loai A EidPediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates.
Hazem Subhi H AwadPediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates.
Muna Al SaffarDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.
Marwa M NabhanDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Jameela A KariDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Sherif El DesokyDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Mohamed A ShalabyDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Said OodaExperimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria 21511, Egypt.
Hanan M FathyDepartment of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Michael J G SomersDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MDelineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.K08DK125768 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI MAJMUNDAR, AMAR J · 2021 to 2025
$841kNCATS NIH HHS UL1 TR001863NIDDK NIH HHS K08 DK125768
Abstract
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.