Stanislav Kmoch

Charles University — Czech Republic

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index7.4kcitations278works2.12yr avg
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Research Topics

Biochemical and Molecular Research(46), Renal Diseases and Glomerulopathies(45), Metabolism and Genetic Disorders(34), Kidney Stones and Urolithiasis Treatments(25), Mitochondrial Function and Pathology(22)

Publications276 total

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease
Kidney360·2025Open Access
REN p.L16del Mutation Is Associated with a Milder In Vitro and Clinical Phenotype Compared with Other Signal Peptide Mutations
Journal of the American Society of Nephrology·2025
Truncating Mutations in BICC1 Cause Autosomal Dominant Tubulointerstitial Kidney Disease
Journal of the American Society of Nephrology·2025
Outcomes of Referrals to the Wake Forest Autosomal Dominant Tubulointerstitial Kidney Disease Registry
Journal of the American Society of Nephrology·2025
Differential regulation of gene co-expression modules in muscles and liver of preterm newborns
Frontiers in Cell and Developmental Biology·2025Open Access
An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease
2025Open Access
De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity
2025Open Access
Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression
2025· 2 citedOpen Access
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
American Journal of Kidney Diseases·2025· 3 cited
Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects
2025· 1 citedOpen Access
Expanded View of the Pathophysiology of Fabry Disease
˜The œNephron journals/Nephron journals·2025· 2 citedOpen Access
Recent Advances in Understanding the Pathophysiology of Fabry Disease
˜The œNephron journals/Nephron journals·2025Open Access
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics·2025· 3 citedOpen Access
Faster postnatal decline in hepatic erythropoiesis than granulopoiesis in human newborns
Frontiers in Pediatrics·2025· 1 citedOpen Access
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome
2025· 1 citedOpen Access
Phosphoribosylformylglycinamidine Synthase ( <scp>PFAS</scp> ) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine <i>de Novo</i> Synthesis
Journal of Inherited Metabolic Disease·2025· 2 citedOpen Access
Characterization of Monogenic Kidney Disease in Older Patients With CKD
Kidney International Reports·2025· 1 citedOpen Access
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Journal of the American Society of Nephrology·2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Genes·2025· 1 citedOpen Access
Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response
˜The œNephron journals/Nephron journals·2025· 3 citedOpen Access
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Frequent Co-authors

Anthony J. Bleyer(19), Viktor Stránecký(16), Kateřina Hodaňová(15), Hana Hartmannová(13), Veronika Barešová(11), Helena Hůlková(11), Martina Živná(11), Jana Sovová(10), Petr Vyleťal(9), Kendrah Kidd(9), Lenka Nosková(8), Anna Přistoupilová(7), J Zeman(6), Constantinos Deltas(5), Robert Ivánek(5), Tomáš Honzík(5), J Houštěk(5), Jakub Sikora(5), Marie Zikánová(5), Lenka Piherová(5)