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Pediatric Nephrology (Berlin, Germany)|January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.Pageof 2