prof. MUDr. Tomáš Freiberger, Ph.D.

2025

• Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

  BLOOMFIELD Marketa HLAVÁČKOVÁ Eva SCHNEIDEROVÁ Helena TURNOVEC Marek TICHY Lukas CECH Zbynek CHRASTINA Petr DVORAKOVA Lenka PESKOVA Karolina FORMANKOVA Renata RIHA Petr VLKOVÁ Marcela BEJDÁK Petr HAVLISOVA Magdalena FRONKOVA Eva KALINA Tomas BÍLY Viktor RICNA Dita GROMBIŘÍKOVÁ Hana SEDLACEK Petr LITZMAN Jiří FREIBERGER Tomáš SEDIVA Anna KLOCPERK Adam

  Peer-reviewed scientific article

  PEDIATRIC ALLERGY AND IMMUNOLOGY, year: 2025, volume: 36, edition: 5, DOI

• Functional characterization of 16 variants found in the LDL receptor gene

  KONEČNÁ Kateřina PŘEROVSKÁ Tereza LOJA Tomáš FAJKUSOVÁ Lenka KOUTNÁ Jana KRAMÁREK Michal ALVES Ana Catarina BOURBON Mafalda FREIBERGER Tomáš TICHÝ Lukáš

  Peer-reviewed scientific article

  JOURNAL OF LIPID RESEARCH, year: 2025, volume: 66, edition: 9, DOI

• Genetické vyšetření v kardiologii: Aktualizované souhrnné vyjádření a doporučení odborníků pracovní skupiny kardiogenetiky při ČAPK/ČKS, SLG a ČSSL a ST při ČSL JEP

  KREBSOVÁ Alice KUTÍLKOVÁ Eva KUBANEK Milos ZOUBKOVA Veronika TAVACOVA Terezia PELDOVA Petra PIHEROVA Lenka VOTYPKA Pavel POHLOVA KUCEROVA Stepanka GROCHOVA Ilga GREGOROVA Andrea ŽÁKOVÁ Daniela FREIBERGER Tomáš JANOUSEK Jan NOVOTNÝ Tomáš BONAVENTURA Jiri MACEK Milan

  Peer-reviewed scientific article

  cor et Vasa, year: 2025, volume: 67, edition: 4, DOI

• Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition Medical Life-Trajectories in the Post-2010 Era

  MULDER Janneke W C M REIJMAN M Doortje KUSTERS D Meeike BOERSMA Eric ALNOURI Fahad BLOM Dirk J CATAPANO Alberico L CUCHEL Marina DANN Eldad J FREIBERGER Tomáš GROSELJ Urh HARADA-SHIBA Mariko HOVINGH G Kees IATAN Iulia IBARRETXE Daiana KAYIKCIOGLU Meral KIM Ngoc-Thanh KLINGEL Reinhard RAAL Frederick J REESKAMP Laurens F SADIQ Fouzia SCHONCK Willemijn A M TROMP Tycho R TRUONG Thanh-Huong WIEGMAN Albert ROETERS van Lennep Jeanine E

  Peer-reviewed scientific article

  JACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, year: 2025, volume: 85, edition: 19, DOI

• Immunostimulatory Potential of Staphylococcus aureus-Derived Vesicles in the Context of Infective Endocarditis

  TURKOVÁ Kristýna MLČEKOVÁ Veronika DUTKOVÁ Miriam OBRUČOVÁ Hana FREIBERGER Tomáš ORLOVSKÁ Júlia KUBALA Lukáš AMBROŽOVÁ Gabriela

  Conference abstract

  Year: 2025, type: Conference abstract

• Infective endocarditis pathogen detection with Nanopore sequencing

  MACHÁČKOVÁ Annamária FIEDOROVÁ Kristýna VANĚRKOVÁ Martina OBRUČOVÁ Hana FREIBERGER Tomáš

  Conference abstract

  Year: 2025, type: Conference abstract

• Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry

  ELSHORBAGY Amany VALLEJO-VAZ Antonio J BARKAS Fotios LYONS Alexander R M STEVENS Christophe A T DHARMAYAT Kanika I CATAPANO Alberico L FREIBERGER Tomáš HOVINGH G Kees MATA Pedro RAAL Frederick J SANTOS Raul D SORAN Handrean WATTS Gerald F ABIFADEL Marianne AGUILAR-SALINAS Carlos A ALHABIB Khalid F ALKHNIFSAWI Mutaz ALMAHMEED Wael ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid AL-SARRAF Ahmad ARCA Marcello ASHAVAID Tester F AVERNA Maurizio BANACH Maciej BECKER Marianne BINDER Christoph J BOURBON Mafalda BRUNHAM Liam R CHLEBUS Krzysztof CORRAL Pablo CRUZ Diogo DAVLETOV Kairat DESCAMPS Olivier S DWIPUTRA Bambang EZHOV Marat GROSELJ Urh HARADA-SHIBA Mariko HOLVEN Kirsten B HUMPHRIES Steve E KAYIKCIOGLU Meral KHOVIDHUNKIT Weerapan LALIC Katarina LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos LIMA-MARTINEZ Marcos M MAHER Vincent MARAIS A David MAERZ Winfried MIRRAKHIMOV Erkin MISEREZ Andre R MITCHENKO Olena NAWAWI Hapizah NORDESTGAARD Borge G PANAYIOTOU Andrie G PARAGH Gyoergy PETRULIONIENE Zaneta POJSKIC Belma POSTADZHIYAN Arman REDA Ashraf REINER Zeljko REYES Ximena SADIQ Fouzia SADOH Wilson Ehidiamen SCHUNKERT Heribert SHEK Aleksandr B STROES Erik SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey V TILNEY Myra TOMLINSON Brian TRUONG Thanh Huong TSELEPIS Alexandros D TYBJAERG-HANSEN Anne VAZQUEZ-CARDENAS Alejandra VIIGIMAA Margus VOHNOUT Branislav YAMASHITA Shizuya RAY Kausik K

  Peer-reviewed scientific article

  European heart journal, year: 2025, volume: 46, edition: 12, DOI

• Polygenic risk score and lipoprotein(a) in relation to low-density lipoprotein cholesterol levels in Czech newborn cohort

  KOUTNÁ Jana KOVÁČOVÁ Tatiana ŽÁČKOVÁ Aneta FREIBERGER Tomáš

  Conference abstract

  Year: 2025, type: Conference abstract

• Prospective study on breastfeeding, lipid profile and cardiovascular risk markers in women with familial hypercholesterolaemia: study protocol for the FH-FEMINA study

  KLEVMOEN Marianne MULDER Janneke W C M BOGSRUD Martin P RETTERSTOL Kjetil VESTERBEKKMO Elisabeth K PEDERSEN Eva K R FREIBERGER Tomáš VRABLIK Michal VACLOVA Martina HOVLAND Anders VETHE Nils Tore BREKKE Hilde Kristin IVERSEN Per Ole VEIEROD Marit JEANINE Roeters van Lennep HOLVEN Kirsten B

  Peer-reviewed scientific article

  BMJ Open, year: 2025, volume: 15, edition: 4, DOI

• Rheumatoid arthritis and bronchial asthma are associated with changes in PLAUR gene expression in monocytes and macrophages

  KULÍŠKOVÁ Petra ZAPLETAL Ondřej SLANINA Peter ŠTÍCHOVÁ Julie VLKOVÁ Marcela BAROŠ Jan NĚMEC Petr LITZMAN Jiří SOUČEK Přemysl FREIBERGER Tomáš

  Peer-reviewed scientific article

  Gene, year: 2025, volume: 972, edition: November 2025, DOI