Anthony J. Bleyer

Charles University — Czech Republic

Medicine · Health Sciences

57h-index13.7kcitations604works3.42yr avg
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Research Topics

Renal Diseases and Glomerulopathies(73), Dialysis and Renal Disease Management(44), Metabolism and Genetic Disorders(38), Chronic Kidney Disease and Diabetes(29), Kidney Stones and Urolithiasis Treatments(29)

Publications600 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
Phenotype-Genotype Characteristics and Disease Progression of FAN1 Karyomegalic Interstitial Nephritis
Journal of the American Society of Nephrology·2025
Mesencephalic Astrocyte-Derived Neurotrophic Factor Orchestrates Endoplasmic Reticulum (ER)-Mitochondrial Calcium Homeostasis in Genetic CKD
Journal of the American Society of Nephrology·2025
MUC1 Transmembrane Glycoprotein Is a Critical Element in the Urinary Tract Host Defense Against Infections
Journal of the American Society of Nephrology·2025
Impaired Autophagy in Human Kidney Organoids of Autosomal Dominant Tubulointerstitial Kidney Disease
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
Effects of Lowering Postdialysis Weight on Intradialytic Blood Pressure in 17,000 Treatments
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
An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease
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
Quantifying clinical and genetic factors influencing rate and severity of autosomal dominant tubulointerstitial kidney disease progression
Journal of Pharmacokinetics and Pharmacodynamics·2025Open Access
Recent Advances in Understanding the Pathophysiology of Fabry Disease
˜The œNephron journals/Nephron journals·2025Open Access
Genotype–phenotype correlations and clinical outcomes of genetic <i>TRPC6</i> podocytopathies
Nephrology Dialysis Transplantation·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
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study
BMC Nephrology·2024· 1 citedOpen Access
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Frequent Co-authors

Stanislav Kmoch(11), Gregory B. Russell(9), Michael G. Shlipak(7), Linda F. Fried(7), Zak K. Shihabi(7), Martina Živná(7), Barry I. Freedman(6), Catherine Stehman‐Breen(5), Anne B. Newman(5), Thomas C. Hart(5), Corinne Antignac(5), Veronika Barešová(5), Petr Vyleťal(5), Kateřina Hodaňová(5), Kendrah Kidd(5), John M. Burkart(5), Teri A. Manolio(4), Michael V. Rocco(4), Constantinos Deltas(4), Olivier Devuyst(4)