Mgr. Michal Kramárek, Ph.D.

2024

• Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs

  KRAMÁREK Michal SOUČEK Přemysl RÉBLOVÁ Kamila KAJAN GRODECKA Lucie FREIBERGER Tomáš

  Article in Periodical

  Nucleic acids research, year: 2024, volume: 52, edition: 10, DOI

2023

• Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort

  GROMBIŘÍKOVÁ Hana BÍLY Viktor SOUČEK Přemysl KRAMÁREK Michal HAKL Roman BALLONOVÁ Lucie RAVCUKOVA Barbora RICNA Dita KOŽENÁ Karolína KRATOCHVÍLOVÁ Lucie SOBOTKOVA Marta ZACHOVA Radana KUKLÍNEK Pavel KRALICKOVA Pavlina KRCMOVA Irena HANZLIKOVA Jana VACHOVA Martina KRYSTUFKOVA Olga DANKOVA Eva JESENAK Milos NOVACKOVA Martina SVOBODA Michal LITZMAN Jiří FREIBERGER Tomáš

  Article in Periodical

  Journal of Clinical Immunology, year: 2023, volume: 43, edition: 8, DOI

2022

• The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

  CHORA J. R. IACOCCA M. A. TICHÝ Lukas WAND H. KURTZ C. L. ZIMMERMANN H. LEON A. WILLIAMS M. HUMPHRIES C. L. HOOPER A. J. TRINDER M. BRUNHAM L. R. COSTA PEREIRA A. JANNES C. E. CHEN M. CHONIS J. WANG J. KIM S. JOHNSTON T. SOUČEK Přemysl KRAMÁREK Michal LEIGH. S. E CARRIÉ A. SIJBRANDS E. J. HEGELE. R. A FREIBERGER Tomáš KNOWLES J. W. BOURBON M.

  Article in Periodical

  Genetics In Medicine, year: 2022, volume: 24, edition: 2, DOI

2021

• Oligogenic inheritance in a very early onset IBD: causal or random association?

  BÍLY Viktor GROMBIŘÍKOVÁ Hana SOUČEK Přemysl KRAMÁREK Michal FREIBERGER Tomáš

  Appeared in Conference without Proceedings

  Year: 2021, type: Appeared in Conference without Proceedings

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

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

• 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

2014

• No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay

  GRODECKÁ Lucie KRAMÁREK Michal LOCKEROVÁ Pavla KOVÁČOVÁ Tatiana RAVČUKOVÁ Barbora RICHTEROVÁ Radmila KYSELOVÁ Kateřina AUGSTE Eva FREIBERGER Tomáš

  Article in Periodical

  GENES CHROMOSOMES & CANCER, year: 2014, volume: 53, edition: 9, DOI