Associated Papers
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
40402239 (PubMed )
Supplement: 439_2025_2752_MOESM1_ESM.docx
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
Nozari A et al.
Cell Journal, 2019
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
Lemay P et al.
Molecular Genetics & Genomic Medicine, 2019
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.
Husson T et al.
Translational Psychiatry, 2018
30518751 (PubMed )
Supplement: 41398_2018_291_MOESM1_ESM.pdf
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S et al.
Kidney International, 2011
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