Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants.
Tabatabaeifar M et al.
Stem Cell Research, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?
Arslan Z et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant.
Tory K
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
In Reply to 'Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant'.
Rood IM
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Tan W et al.
Pediatric Nephrology (berlin, Germany), 2018