Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
41141495 (PubMed )
Supplement: mmc1.pdf
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.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Chaudhari S et al.
Molecular Genetics and Genomics : Mgg, 2023
37209156 (PubMed )
Supplement: 438_2023_2032_MOESM3_ESM.xlsx › Case_2
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S et al.
Nature Communications, 2018
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