P. Hujová

Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites

L. Radová, P. Souček, T. Freiberger, 2021, Cellular and Molecular Life Sciences.

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

K. Réblová, M. Lexa, L. Radová, 2019, RNA biology.

Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition

P. Souček, L. Grodecká, T. Freiberger, 2020, International journal of molecular sciences.

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

J. Litzman, B. Ravčuková, P. Souček, 2020, Journal of Clinical Immunology.

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

B. Ravčuková, P. Souček, L. Grodecká, 2017, Clinical immunology.

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

S. Seneca, E. Buratti, W. Lissens, 2017, Journal of Molecular Medicine.