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.