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
Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.
Yari A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_exome_frozen
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Domingo-Gallego A et al.
Bmc Nephrology, 2019
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