2020

• Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

  HUJOVÁ Pavla SOUČEK Přemysl GRODECKÁ Lucie GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman LITZMAN Jiří FREIBERGER Tomáš

  Article in Periodical

  Journal of Clinical Immunology, year: 2020, volume: 40, edition: 3, DOI

2019

• High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing

  SOUČEK Přemysl RÉBLOVÁ Kamila KRAMÁREK Michal RADOVÁ Lenka GRYMOVÁ Tereza HUJOVÁ Pavla KOVÁČOVÁ Tatiana LEXA Matej GRODECKÁ Lucie FREIBERGER Tomáš

  Article in Periodical

  RNA BIOLOGY, year: 2019, volume: 16, edition: 10, DOI

• Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta

  LI J. RITELLI M. MA C. S. RAO G. HABIB T. CORVILAIN E. BOUGARN S. CYPOWYJ S. GRODECKÁ Lucie LEVY R. BEZIAT V. SHANG L. PAYNE K. AVERY D. T. MIGAUD M. BOUCHERIT S. BOUGHORBEL S. GUENNOUN A. CHRABIEH M. RAPAPORT F. BIGIO B. ITAN Y. BOISSON B. CORMIER-DAIRE V. SYX D. MALFAIT F. ZOPPI N. ABEL L. FREIBERGER Tomáš DIETZ H. C. MARR N. TANGYE S. G. COLOMBI M. CASANOVA J. L. PUEL A. FIESCHI C.

  Article in Periodical

  SCIENCE IMMUNOLOGY, year: 2019, volume: 4, edition: 41, DOI

• Impact of acceptor splice site NAGTAG motif on exon recognition

  HUJOVÁ Pavla GRODECKÁ Lucie SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  MOLECULAR BIOLOGY REPORTS, year: 2019, volume: 46, edition: 3, DOI

• Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

  KANDEROVA V. GROMBIRIKOVA H. ZENTSOVA I. RÉBLOVÁ Kamila KLOCPERK A. FEJTKOVA M. BLOOMFIELD M. RAVCUKOVA B. KALINA T. FREIBERGER Tomáš SEDIVA A.

  Article in Periodical

  Haematologica, year: 2019, volume: 104, edition: 1, DOI

2018

• Effect of NAG/NAG motif of acceptor splice site on pre-mRNA splicing

  HUJOVÁ Pavla SOUČEK Přemysl FREIBERGER Tomáš

  Conference abstract

  Year: 2018, type: Conference abstract

• Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy

  HAKL Roman KUKLÍNEK Pavel KRČMOVÁ Irena KRÁLÍČKOVÁ Pavlína FREIBERGER Tomáš JANKŮ Petr VLKOVÁ Marcela LITZMAN Jiří

  Article in Periodical

  Journal of Clinical Immunology, year: 2018, volume: 38, edition: 7, DOI

2017

• Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

  GRODECKÁ Lucie KOVÁČOVÁ Tatiana KRAMÁREK Michal SENECA S. STOUFFS K. DE LAET C. MAJER F. KRŠJAKOVÁ Tereza HUJOVÁ Pavla HRNČÍŘOVÁ Kristýna SOUČEK Přemysl LISSENS W. BURATTI E. FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF MOLECULAR MEDICINE-JMM, year: 2017, volume: 95, edition: 3, DOI

• Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

  GRODECKA Lucie BURATTI Emanuele FREIBERGER Tomáš

  Article in Periodical

  International Journal of Molecular Sciences, year: 2017, volume: 18, edition: 8, DOI

• Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

  GRODECKÁ Lucie HUJOVÁ Pavla KRAMÁREK Michal KRSJAKOVA Tereza KOVÁČOVÁ Tatiana VONDRÁŠKOVÁ Katarína RAVCUKOVA Barbora HRNČÍŘOVÁ Kristýna SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  Clinical Immunology, year: 2017, volume: 180, edition: July, DOI