prof. MUDr. Tomáš Freiberger, Ph.D.

2026

• Extensive pregnancy-related off-treatment time in women with familial hypercholesterolaemia

  KLEVMOEN Marianne ROETERS van Lennep Jeanine BOGSRUD Martin Proven VESTERBEKKMO Elisabeth Kleivhaug PEDERSEN Eva Kristine Ringdal HOVLAND Anders MULDER Janneke W C M BREKKE Hilde Kristin IVERSEN Per Ole VACLOVA Martina VRABLIK Michal FREIBERGER Tomáš RETTERSTOL Kjetil HOLVEN Kirsten B

  Peer-reviewed scientific article

  Atherosclerosis, year: 2026, volume: 415, edition: April 2026, DOI

• Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement

  WIEGMAN Albert BOURBON Mafalda FREIBERGER Tomáš GIDDING Samuel S GREBER-PLATZER Susanne GROSELJ Urh HOLVEN Kirsten B HUDGINS Lisa C HUMPHRIES Steve E HUTTEN Barbara A IBARRETXE Daiana PEDERIVA Cristina PERETTI Noel RAAL Frederick J RAMASWAMI Uma SANIN Veronika SANTOS Raul D STEINHAGEN-THIESSEN Elisabeth WATTS Gerald F PERKINS Rosie BENN Marianne BINDER Christoph J ROMEO Stefano ROETERS VAN LENNEP Jeanine E

  Peer-reviewed scientific article

  European heart journal, year: 2026, DOI

• GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

  REKERLE Lauren DANIS Daniel REHBURG Filip GRAEFE Adam S L BÍLY Viktor CABALLERO-OTEYZA Andres CACHEIRO Pilar CHIMIRRI Leonardo CHONG Jessica X CONNELLY Evan DE VRIES BERT A B DINGEMANS Alexander J M DUYZEND Michael H FREIBERGER Tomáš GEHLE Petra GROZA Tudor HANSEN Peter JACOBSEN Julius O B KLOCPERK Adam LADEWIG Markus S LOVE Michael I MARCELLO Allison J MORDHORST Alexander MUNOZ-TORRES Monica C REESE Justin SCHUETZ Catharina SMEDLEY Damian STRAUSS Timmy VLADYKA Ondrej ZOCCHE David THUN Sylvia MUNGALL Christopher J HAENDEL Melissa A ROBINSON Peter N

  Peer-reviewed scientific article

  AMERICAN JOURNAL OF HUMAN GENETICS, year: 2026, volume: 113, edition: 1, DOI

• Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry

  SCHONCK Willemijn A M MULDER Janneke W C M CUCHEL Marina REESKAMP Laurens F ALNOURI Fahad IATAN Iulia FREIBERGER Tomáš KAYIKCIOGLU Meral TROMP Tycho R REIJMAN M Doortje WIEGMAN Albert HOVINGH G Kees E Roeters van Lennep Jeanine RAAL Frederick J BLOM Dirk J CATAPANO Alberico L

  Peer-reviewed scientific article

  European heart journal, year: 2026, DOI

• Improvement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen

  JADRNICKOVA Pavla TICHÝ Lukáš KASPRAKOVA Martina VACLAVIK Jan FREIBERGER Tomáš

  Peer-reviewed scientific article

  Journal of Clinical Lipidology, year: 2026, volume: 20, edition: 2, DOI

• Longitudinal analysis of gut bacterial and fungal dynamics after solid organ transplantation

  FIEDOROVÁ Kristýna OBRUČOVÁ Hana GROMBIŘÍKOVÁ Hana VANĚRKOVÁ Martina BLAŠTÍKOVÁ Eva ŠTĚPÁNKOVÁ Soňa HUSOVÁ Libuše FREIBERGER Tomáš

  Peer-reviewed scientific article

  BMC MICROBIOLOGY, year: 2026, DOI

• Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

  KAFOL Jan MIRANDA Beatriz SIKONJA Rok SIKONJA Jaka WIEGMAN Albert MEDEIROS Ana Margarida ALVES Ana Catarina FREIBERGER Tomáš HUTTEN Barbara A MLINARIC Matej BATTELINO Tadej HUMPHRIES Steve E BOURBON Mafalda GROSELJ Urh

  Peer-reviewed scientific article

  EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, year: 2026, DOI

• Update on genetics of familial hypercholesterolemia

  FREIBERGER Tomáš

  Peer-reviewed scientific article

  CURRENT OPINION IN LIPIDOLOGY, year: 2026, volume: 37, edition: 2, DOI

2025

• Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome

  GROMBIŘÍKOVÁ Hana MARKOCSY Adam KOCURKOVÁ Anna BLATNÝ Jan VLKOVÁ Marcela SLANINA Peter HLAVÁČKOVÁ Eva FIAMOLI Veronika SCHNEIDEROVÁ Helena KLOCPERK Adam ŘÍČNÁ Dita FRONKOVA Eva KRAL Jan SALINGOVA Anna JESENAK Milos FREIBERGER Tomáš

  Peer-reviewed scientific article

  JOURNAL OF IMMUNOLOGY RESEARCH, year: 2025, volume: 2025, edition: 1, DOI

• 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