Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.
Williams AE et al.
Pediatric Nephrology (berlin, Germany), 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Analysis of 14 Patients With Congenital Nephrotic Syndrome.
Chen Y et al.
Frontiers in Pediatrics, 2019
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES et al.
Journal of Medical Genetics, 2017
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 2017
Congenital nephrotic syndrome with a novel NPHS1 mutation.
Yoshizawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
Parker SC et al.
Plos Genetics, 2012
22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › tissue
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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