Associated Papers
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.
Cerkauskaite-Kerpauskiene A et al.
International Journal of Molecular Sciences, 2025
40806767 (PubMed )
Supplement: ijms-26-07639-s001.zip › ijms-3755155-supplementary.pdf
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.
Pagniez MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
39810285 (PubMed )
Supplement: gfaf011_supplemental_files.zip › Supplementary_Tables_S1S2S3_pdf.pdf
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M1
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
37849993 (PubMed )
Supplement: mmc1.pdf
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-2.xlsx › M1
Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.
Cerkauskaite A et al.
Frontiers in Medicine, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
35846154 (PubMed )
Supplement: Table9.XLSX › BLCA
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
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