Associated Papers
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 2024
39252027 (PubMed )
Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.
Dorison A et al.
Journal of the American Society of Nephrology : Jasn, 2023
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Wai HA et al.
Human Mutation, 2022
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L et al.
Clinical Genetics, 2022
35064937 (PubMed )
Supplement: supplement_1.docx
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
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