Publications by authors named "Tomas Freiberger"

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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S L Graefe, Viktor Bily, Tomas Freiberger

Am J Hum Genet· December 2025

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Rheumatoid arthritis and bronchial asthma are associated with changes in PLAUR gene expression in monocytes and macrophages.
Petra Kulíšková, Ondřej Zapletal, Peter Slanina, Julie Štíchová, Marcela Vlková, Tomáš Freiberger

Gene· November 2025

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Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.
Hana Grombirikova, Adam Markocsy, Anna Kocurkova, Jan Blatny, Marcela Vlkova, Tomas Freiberger

J Immunol Res· October 2025

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Functional characterization of 16 variants found in the LDL receptor gene.
Kateřina Konečná, Tereza Přerovská, Tomáš Loja, Lenka Fajkusová, Jana Koutná, Tomáš Freiberger

J Lipid Res· September 2025

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State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia.
Jonathan N Flyer, Tomáš Freiberger, Adam L Ware, Amy L Peterson

Am J Prev Cardiol· September 2025

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Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).
Jan Kafol, Beatriz Miranda, Rok Sikonja, Jaka Sikonja, Albert Wiegman, Tomas Freiberger

Eur J Prev Cardiol· June 2025

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Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.
Markéta Bloomfield, Eva Hlaváčková, Helena Schneiderová, Marek Turnovec, Lukáš Tichý, Tomáš Freiberger

Pediatr Allergy Immunol· May 2025

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Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition: Medical Life-Trajectories in the Post-2010 Era.
Janneke W C M Mulder, M Doortje Reijman, D Meeike Kusters, Eric Boersma, Fahad Alnouri, Tomas Freiberger

J Am Coll Cardiol· May 2025

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Prospective study on breastfeeding, lipid profile and cardiovascular risk markers in women with familial hypercholesterolaemia: study protocol for the FH-FEMINA study.
Marianne Klevmoen, Janneke W C M Mulder, Martin P Bogsrud, Kjetil Retterstøl, Elisabeth K Vesterbekkmo, Tomas Freiberger

BMJ Open· April 2025

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Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.
Amany Elshorbagy, Antonio J Vallejo-Vaz, Fotios Barkas, Alexander R M Lyons, Christophe A T Stevens, Tomas Freiberger

Eur Heart J· March 2025

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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily, Tomas Freiberger

medRxiv· March 2025

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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Maarja Soomann, Viktor Bily, Magdeldin Elgizouli, Dennis Kraemer, Gülfirde Akgül, Tomas Freiberger

J Allergy Clin Immunol· November 2024

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Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia.
Katarina Raslova, Viera Donicova, Katarina Gonova, Alexander Klabnik, Lukas Tichy, Tomas Freiberger

J Clin Lipidol· August 2024

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Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.
Michal Kramárek, Přemysl Souček, Kamila Réblová, Lucie Kajan Grodecká, Tomáš Freiberger

Nucleic Acids Res· June 2024

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Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia.
Martin Satny, Veronika Todorovova, Tereza Altschmiedova, Jaroslav A Hubacek, Lucie Dlouha, Tomas Freiberger

J Clin Lipidol· May 2024

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Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in gene.
Adam Markocsy, Katarina Hrubiskova, Martin Hrubisko, Tomas Freiberger, Hana Grombirikova

World Allergy Organ J· March 2024

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LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Kateřina Konečná, Petra Zapletalová, Tomáš Freiberger, Lukáš Tichý

Lipids Health Dis· February 2024

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Correction: Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012).
Juan Ambrosioni, Marta Hernández-Meneses, Emanuele Durante-Mangoni, Pierre Tattevin, Lars Olaison, Tomas Freiberger

Infect Dis Ther· December 2023

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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Hana Grombirikova, Viktor Bily, Premysl Soucek, Michal Kramarek, Roman Hakl, Tomas Freiberger

J Clin Immunol· November 2023

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2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
Marina Cuchel, Frederick J Raal, Robert A Hegele, Khalid Al-Rasadi, Marcello Arca, Tomas Freiberger

Eur Heart J· July 2023

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Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Lucie Ballonová, Přemysl Souček, Peter Slanina, Kamila Réblová, Ondřej Zapletal, Tomáš Freiberger

Front Genet· July 2023

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PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages.
Lucie Ballonová, Petra Kulíšková, Peter Slanina, Julie Štíchová, Marcela Vlková, Tomáš Freiberger

Mol Biol Rep· June 2023

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Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012).
Juan Ambrosioni, Marta Hernández-Meneses, Emanuele Durante-Mangoni, Pierre Tattevin, Lars Olaison, Tomas Freiberger

Infect Dis Ther· April 2023

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Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations.
Samuel S Gidding, Albert Wiegman, Urh Groselj, Tomas Freiberger, Noel Peretti

Eur J Prev Cardiol· December 2022

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The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.
Nicole Bedlington, Marianne Abifadel, Birgit Beger, Mafalda Bourbon, Héctor Bueno, Tomáš Freiberger

GMS Health Innov Technol· September 2022

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