After the Diagnosis

by admin | Sep 2, 2026 | Publications

Bleyer, A.J. and Kmoch, S. (2026) “After the Diagnosis,” Advances in Kidney Disease and Health, 33(1), pp. 9–14. Available at: https://doi.org/10.1053/j.akdh.2026.02.004.

Introducing the digital PCR data essentials standard to harmonize data structure for clinical and research use

by admin | Sep 2, 2026 | Publications

Wim, T. et al. (2026) “Introducing the digital PCR data essentials standard to harmonize data structure for clinical and research use,” bioRxiv, p. 2026.04.10.717368. Available at: https://doi.org/10.64898/2026.04.10.717368.

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics

by admin | Sep 2, 2026 | Publications

Steiner Mrázová, L. et al. (2026) “Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics,” Human Mutation, 2026(1), p. 8416660. Available at: https://doi.org/10.1155/humu/8416660.

01 Reduced HLA diversity and impaired immune surveillance in very early-onset ovarian cancer patients

by admin | Sep 2, 2026 | Publications

Soukupova, J. et al. (2026) “01 Reduced HLA diversity and impaired immune surveillance in very early-onset ovarian cancer patients,” Journal for Immunotherapy of Cancer, 14(Suppl 1), p. A19. Available at: https://doi.org/10.1136/JITC-2026-ITOC.34.

Thin glomerular basement membrane phenotypes with no identified pathogenic COL4A3/A4/A5 variant

by admin | Sep 2, 2026 | Publications

Riella, C. V et al. (2026) “Thin glomerular basement membrane phenotypes with no identified pathogenic COL4A3/A4/A5 variant,” Kidney International Reports, p. 106548. Available at: https://doi.org/10.1016/j.ekir.2026.106548.

ORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and Tied to Ceramide Homeostasis

by admin | Sep 2, 2026 | Publications

Mrkacek, M. et al. (2026) “ORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and Tied to Ceramide Homeostasis.,” FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 40(6), p. e71655....