Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis

by admin | Sep 2, 2026 | Publications

Vrbacká, A. et al. (2026) “Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis,” Journal of the American Society of Nephrology [Preprint]. Available at:...

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

by admin | Sep 2, 2026 | Publications

Svojšová, K. et al. (2026) “Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease,” medRxiv, p. 2026.07.31.26359118. Available at: https://doi.org/10.64898/2026.07.31.26359118

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report

by admin | Sep 2, 2026 | Publications

Rots, D. et al. (2026) “A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.,” Frontiers in genetics, 17, p. 1824138. Available at: https://doi.org/10.3389/fgene.2026.1824138.

paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer Diagnostics

by admin | Sep 2, 2026 | Publications

Matějková, K. et al. (2026) “paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer Diagnostics.” (preprint)

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

by admin | Sep 2, 2026 | Publications

Kuchar, L. et al. (2026) “Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients,” Journal of Inherited Metabolic Disease, 49(4), p. e70218.

The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates

by admin | Sep 2, 2026 | Publications

Krijt, J. et al. (2026) “The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap,” Nucleosides, Nucleotides & Nucleic Acids, pp. 1–12. Available at:...