Associated Papers
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Erratum to: Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.
Dhandapani MC et al.
Clinical and Experimental Nephrology, 2017
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
Sako M et al.
Kidney International, 2005
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