Publications | Multiomics

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

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: https://doi.org/10.1681/ASN.0000001103.

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

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

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

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

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

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: https://doi.org/10.1080/15257770.2026.2687453.

Severe adenylosuccinate lyase deficiency with early autonomic dysfunction

Kravljanac, R. et al. (2026) “Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram,” Molecular Genetics and Metabolism, 149(1), p. 110192. Available at: https://doi.org/https://doi.org/10.1016/j.ymgme.2026.110192.

Identification and characterization of genetic factors in hereditary tubulointerstitialkidney diseases

Kmochová, T. (2026) Identifikace a charakterizace genetických faktorů dědičného tubulointersticiálního onemocnění ledvin (Identification and characterization of genetic factors in hereditary tubulointerstitialkidney diseases). Dissertation thesis. Supervisor: Živná, Martina. Univerzita Karlova, 1. lékařská fakulta. Klinika pediatrie a dědičných poruch metabolismu 1. LF UK a VFN, 2026.

Single-nucleus microglial enrichment from frozen brain tissue

Dostalova, D., Abaffy, P. and Valihrach, L. (2026) “Single-nucleus microglial enrichment from frozen brain tissue.” Protocol.

Mechanistic modeling of recessive disease through allelic integration of variant effects

Çubuk, H. et al. (2026) “Mechanistic modeling of recessive disease through allelic integration of variant effects,” Cell Systems, 17(6).

Single‐Nucleus Transcriptome Analysis Provides New Insights Into B Chromosome Elimination in Sorghum

Bojdová, T. et al. (2026) “Single‐Nucleus Transcriptome Analysis Provides New Insights Into B Chromosome Elimination in Sorghum,” Plant Biotechnology Journal [Preprint].

Autosomal Dominant Tubulointerstitial Kidney Disease: My Kingdom for a Biomarker

Bleyer, A.J. and Kmoch, S. (2026) “Autosomal Dominant Tubulointerstitial Kidney Disease: My Kingdom for a Biomarker,” Journal of the American Society of Nephrology : JASN, 37(8), pp. 1616–1618. Available at: https://doi.org/10.1681/ASN.0000001167.

After the Diagnosis

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

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

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

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

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

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. Available at: https://doi.org/10.1096/fj.202502924RR.

Online Deglycosylation of Monomeric Intact Proteins Using the PNGase Rc Immobilized-Enzyme Reactor

Molnárová, K. et al. (2026) “Online Deglycosylation of Monomeric Intact Proteins Using the PNGase Rc Immobilized-Enzyme Reactor,” ACS Omega, 11(17), pp. 25724–25729. Available at: https://doi.org/10.1021/acsomega.6c00577.

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis

Leung, N. et al. (2026) “A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis,” Kidney International [Preprint]. Available at: https://doi.org/10.1016/j.kint.2026.01.035.

Understanding the qPCR Standard Curve: From Assay Validation to Absolute Quantification and Variance PCR

Kubista, M. et al. (2026) “Understanding the qPCR Standard Curve: From Assay Validation to Absolute Quantification and Variance PCR,” International Journal of Molecular Sciences, p. 2904. Available at: https://doi.org/10.3390/ijms27062904.

Original Article Short-Term Lymphocyte Culture Improves the Diagnostic Yield of Targeted RNA NGS in Cancer Predisposition Testing,

Černá, M. et al. (2026) “Original Article Short-Term Lymphocyte Culture Improves the Diagnostic Yield of Targeted RNA NGS in Cancer Predisposition Testing,” Folia Biologica, 72(1), pp. 16–26. Available at: https://doi.org/10.14712/fb2026.0001.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Unpublished preprint
Vrbacká A, Přistoupilová A, Kidd KO, et al (2025)
bioRxiv 2025.09.06.673538.
https://doi.org/10.1101/2025.09.06.673538 (preprint)

An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease

Unpublished preprint
Kidd KO, Williams AH, Elhassan EAE, et al (2025)
Res Sq. https://doi.org/10.21203/rs.3.rs-7482366/v1 (preprint)

DDX3X syndrome: a multicenter genotype-phenotype study

Unpublished preprint
Coci EG, Gertzen CGW, Millan PC, et al (2025)
DOI:10.21203/rs.3.rs-7842722/v1 (preprint)
Available here

Physiological cell culture media alter nucleotide metabolism in T lymphocytes and increase their sensitivity to methotrexate

Unpublished preprint
Cano-Estrada, C. et al. (2026)
(preprint – available here)

Targeting tumors and inflammation: A quinoline–chalcone ruthenium complex with therapeutic promise

Veselá K, Tatar A, Kejík Z, et al (2026)
Biomed Pharmacother 194:118930.
https://doi.org/https://doi.org/10.1016/j.biopha.2025.118930

Ruthenium-enhanced curcumin derivatives target tumor growth and cancer-related inflammation in head and neck cancer models

Veselá K, Tatar A, Kejík Z, et al (2025)
Front Oncol 15:1708944.
https://doi.org/10.3389/fonc.2025.1708944

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Klapperich, A. et al. (2026)
Prenatal diagnosis [Preprint].
Available at: https://doi.org/10.1002/pd.70087.

Characterization of Monogenic Kidney Disease in Older Patients With CKD

Elhassan, E.A.E. et al. (2025)
Kidney International Reports, 10(7), pp. 2140–2152.
Available at: https://doi.org/https://doi.org/10.1016/j.ekir.2025.04.017.

Extracellular vesicles as precision therapeutics for psychiatric conditions: targeting interactions among neuronal, glial, and immune networks

Kawiková I, Špička V, Lai JCK, et al (2025)
Front Immunol 16:1–19
https://doi.org/10.3389/fimmu.2025.1454306

Novel structure motif for the selective inhibition of TET1 protein based on perimidines

Kejík Z, Kaplánek R, Abramenko N, et al (2026)
J Mol Struct 1349
https://doi.org/10.1016/j.molstruc.2025.143720

The potential of exosomes in regenerative medicine and in the diagnosis and therapies of neurodegenerative diseases and cancer

Odehnalová N, Šandriková V, Hromadka R, et al (2025)
Front Med 12
https://doi.org/10.3389/fmed.2025.1539714

Integrated omics reveals disease-associated radial glia-like cells with epigenetically dysregulated interferon response in multiple sclerosis

Park B, Nicaise AM, Tsitsipatis D, et al (2025)
Neuron
https://doi.org/10.1016/j.neuron.2025.09.022

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

Schott C, Alajmi M, Bukhari M, et al (2025)
Genes (Basel) 16
https://doi.org/10.3390/genes16040408

Interaction of Selected Anthracycline and Tetracycline Chemotherapeutics with Poly(I:C) Molecules

Skaličková M, Abramenko N, Charnavets T, et al (2025)
ACS Omega 10:15935–15946.
https://doi.org/10.1021/acsomega.4c05483

Recent Advances in Understanding the Pathophysiology of Fabry Disease

Warnock DG, Linhart A, Bleyer AJ, Kmoch S (2025)
Nephron 569–571
https://doi.org/10.1159/000546085

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis

Zikanova M, Skopova V, Stuurman KE, et al (2025)
J Inherit Metab Dis 48:1–8
https://doi.org/10.1002/jimd.70041

Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response

Published publications
Živná M, Lenders M, Kmoch S (2025)
Nephron 580–590.
https://doi.org/10.1159/000545388

PU.1-driven enrichment enables microglia profiling from frozen brain tissue using the high-throughput Smart-seq3xpress method

Unpublished preprint
Dostalova D, Abaffy P, Rohlova E, et al (2025)
bioRxiv 2025.08.11.669607.
https://doi.org/10.1101/2025.08.11.669607

De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity

Unpublished preprint
Hnízda A, Martinez-Delgado B, Sanchez-Ponce D, et al (2025)
bioRxiv 2025.09.25.678439.
https://doi.org/10.1101/2025.09.25.678439

Preparation and characterization of flow reactors for the validation of biological drugs

Diploma thesis
Kordík J (2025)
Univerzita Karlova, Přírodovědecká fakulta Katedra biochemie, 2025.