prof. MUDr. Tomáš Freiberger, Ph.D.

2025

• 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

  Article in Periodical

  European heart journal, year: 2025, DOI

• Současné možnosti mNGS při identifikaci patogenů u sepse

  MACHÁČKOVÁ Annamária FREIBERGER Tomáš

  Appeared in Conference without Proceedings

  Year: 2025, type: Appeared in Conference without Proceedings

2024

• A novel frameshift variant and large deletion in CD19 confirm diagnosis of CD19 deficiency in a young patient: a case study

  KOŽENÁ Karolína GROMBIŘÍKOVÁ Hana ŘÍČNÁ Dita KRATOCHVÍLOVÁ Lucie KRÁLÍČKOVÁ Pavlína ŠEDIVÁ Anna FREIBERGER Tomáš

  Conference abstract

  Year: 2024, type: Conference abstract

• Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study

  ELSHORBAGY Amany LYONS Alexander R M VALLEJO-VAZ Antonio J STEVENS Christophe A T DHARMAYAT Kanika I BRANDTS Julia 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 ASHAVAID Tester F BANACH Maciej BINDER Christoph J BOURBON Mafalda BRUNHAM Liam R CHLEBUS Krzysztof CORRAL Pablo CRUZ Diogo DAVLETOV Kairat DESCAMPS Olivier S EZHOV Marat GAITA Dan GROSELJ Urh HARADA-SHIBA Mariko HOLVEN Kirsten B KAYIKCIOGLU Meral KHOVIDHUNKIT Weerapan LALIC Katarina LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos LIMA-MARTINEZ Marcos M LIN Jie MAHER Vincent MARAIS A David MARZ Winfried MIRRAKHIMOV Erkin MISEREZ Andre R MITCHENKO Olena NAWAWI Hapizah NORDESTGAARD Borge G PANAYIOTOU Andrie G PARAGH Gyorgy PETRULIONIENE Zaneta POJSKIC Belma POSTADZHIYAN Arman REDA Ashraf REINER Zeljko REYES Ximena SADIQ Fouzia SADOH Wilson E SCHUNKERT Heribert SHEK Aleksandr B STROES Erik SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey V TILNEY Myra TOMLINSON Brian THANH-HUONG Truong TSELEPIS Alexandros D TYBJAERG-HANSEN Anne VAZQUEZ Alejandra C VIIGIMAA Margus VOHNOUT Branislav WANG Luya YAMASHITA Shizuya ARCA Marcello AVERNA Maurizio RAY Kausik K

  Article in Periodical

  LANCET DIABETES & ENDOCRINOLOGY, year: 2024, volume: 12, edition: 11, DOI

• Atypical XLA caused by a synonymous variant in BTK manifesting with catastrophic encephalopathy

  GROMBIŘÍKOVÁ Hana BLOOMFIELD M KRAMÁREK Michal KAYSEROVA J LIBA Z SOUČEK Přemysl BÍLY Viktor FREIBERGER Tomáš

  Conference abstract

  Year: 2024, type: Conference abstract

• Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene

  MARKOCSY Adam HRUBISKOVA Katarina HRUBISKO Martin FREIBERGER Tomáš GROMBIŘÍKOVÁ Hana DOLESOVA Lenka VAVROVA Ludmila Slivka BEHULOVA Regina Lohajova ONDRUSOVA Martina BANOVCIN Peter VORCAKOVA Karolina JESENAK Milos

  Article in Periodical

  WORLD ALLERGY ORGANIZATION JOURNAL, year: 2024, volume: 17, edition: 3, DOI

• Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia

  RASLOVA Katarina DONICOVA Viera GONOVA Katarina KLABNIK Alexander TICHÝ Lukáš BRIDGES Ian BUCKOVA Dagmar ZACHLEDEROVA Marie FREIBERGER Tomáš VOHNOUT Branislav

  Article in Periodical

  Journal of Clinical Lipidology, year: 2024, volume: 18, edition: 4, DOI

• Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

  DHARMAYAT Kanika Inamdar VALLEJO-VAZ Antonio J STEVENS Christophe A T BRANDTS Julia M LYONS Alexander R M GROSELJ Urh ABIFADEL Marianne AGUILAR-SALINAS Carlos A ALHABIB Khalid ALKHNIFSAWI Mutaz ALMAHMEED Wael ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid ASHAVAID Tester F BANACH Maciej BELIARD Sophie BINDER Christoph BOURBON Mafalda CHLEBUS Krzysztof CORRAL Pablo CRUZ Diogo DESCAMPS Olivier S DROGARI Euridiki DURST Ronen EZHOV Marat V GENEST Jacques HARADA-SHIBA Mariko HOLVEN Kirsten B HUMPHRIES Steve E KHOVIDHUNKIT Weerapan LALIC Katarina LAUFS Ulrich LIBEROPOULOS Evangelos LENNEP Jeanine Roeters van LIMA-MARTINEZ Marcos Miguel LIN Jie MAHER Vincent MAERZ Winfried MISEREZ Andre R MITCHENKO Olena NAWAWI Hapizah PANAYIOTOU Andrie G PARAGH Gyoergy POSTADZHIYAN Arman REDA Ashraf REINER Zeljko REYES Ximena SADIQ Fouzia SAHEBKAR Amirhossein SCHUNKERT Heribert SHEK Aleksandr B STROES Eric SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey CARDENAS Alejandra Vazquez TRUONG Thanh Huong TSELEPIS Alexandros VOHNOUT Branislav WANG Luya YAMASHITA Shizuya AL-SARRAF Ahmad AL-SAYED Nasreen DAVLETOV Kairat DWIPUTRA Bambang GAITA Dan KAYIKCIOGLU Meral LATKOVSKIS Gustavs MARAIS A David MATTHIAS Anne Thushara MIRRAKHIMOV Erkin NORDESTGAARD Borge G PETRULIONIENE Zaneta POJSKIC Belma SADOH Wilson TILNEY Myra TOMLINSON Brian TYBJAERG-HANSEN Anne VIIGIMAA Margus CATAPANO Alberico L FREIBERGER Tomáš HOVINGH G Kees MATA Pedro SORAN Handrean RAAL Frederick WATTS Gerald F SCHREIER Laura BANARES Virginia GREBER-PLATZER Susanne BAUMGARTNER-KAUT Margot CHARLOTTE de Gier DIEPLINGER Hans HOELLERL Florian INNERHOFER Reinhold KARALL Daniela LISCHKA Julia LUDVIK Bernhard MAESER Martin SCHOLL-BUERGI Sabine THAJER Alexandra TOPLAK Hermann DEMEURE Fabian MERTENS Ann BALLIGAND Jean-Luc STEPHENNE Xavier SOKAL Etienne PETROV Ivo GOUDEV Assen NIKOLOV Fedya TISHEVA Snejana YOTOV Yoto TZVETKOV Ivajlo HEGELE Robert A GAUDET Daniel BRUNHAM Liam RUEL Isabelle MCCRINDLE Brian CUEVAS Ada PERICA Drazen SYMEONIDES Phivos TROGKANIS Efstratios KOSTIS Andreas IOANNOU Andreas MOUZAROU Angeliki GEORGIOU Anthoula STYLIANOU Andreas MILTIADOUS George IACOVIDES Paris DELTAS Constantinos VRABLIK Michal URBANOVA Zuzana JESINA Pavel TICHY Lukas HYANEK Josef DVORAKOVA Jana CEPOVA Jana SYKORA Josef BURESOVA Kristyna PIPEK Michal PISTKOVA Eva BARTKOVA Ivana ULAKOVA Astrid S TOUKALKOVA Lenka SPENEROVA Michaela MALY Jan BENN Marianne BENDARY Ahmed ELBAHRY Atef FERRIERES Jean FERRIERES Dorota PERETTI Noel BRUCKERT Eric GALLO Antonio VALERO Rene MOURRE Florian AOUCHICHE Karine REYNAUD Rachel TOUNIAN Patrick LEMALE Julie BOCCARA Franck MOULIN Philippe CHARRIERES Sybil MATHILDE Di Filippo CARIOU Bertrand PAILLARD Francois DOURMAP Caroline PRADIGNAC Alain VERGES Bruno SIMONEAU Isabelle FARNIER Michel COTTIN Yves YELNIK Cecile HANKARD Regis SCHIELE Francois DURLACH Vincent SULTAN Ariane CARRIE Alain RABES Jean-Pierre SANIN Veronika SCHMIEDER Roland ATES Sara RIZOS Christos V SKOUMAS Ioannis TZIOMALOS Konstantinos RALLIDIS Loukianos KOTSIS Vasileios DOUMAS Michalis SKALIDIS Emmanouil KOLOVOU Genovefa KOLOVOU Vana GAROUFI Anastasia KOUTAGIAR Iosif POLYCHRONOPOULOS Georgios KIOURI Estela ANTZA Christina ZACHARIS Evangelos ATTILAKOS Achilleas SFIKAS George KOUMARAS Charalambos ANAGNOSTIS Panagiotis ANASTASIOU Georgia LIAMIS George

  Article in Periodical

  Lancet, year: 2024, volume: 403, edition: 10421, DOI

• Functional analysis of PLAUR alternative splicing isoforms and they role in the development of immunopathological reactions

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

  Conference abstract

  Year: 2024, type: Conference abstract

• Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia

  SATNY Martin TODOROVOVA Veronika ALTSCHMIEDOVA Tereza HUBACEK Jaroslav A DLOUHA Lucie LANSKA Vera SOŠKA Vladimír KYSELÁK Ondřej FREIBERGER Tomáš BOBÁK Martin VRABLIK Michal

  Article in Periodical

  Journal of Clinical Lipidology, year: 2024, volume: 18, edition: 2, DOI