Jana Královičová

Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Emanuele Buratti, Martin Chivers, Jana Královičová et al. · Nucleic Acids Research · 2007 · 196 citations · Full text

Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in<i>BRCA1</i>exon 6

Michela Raponi, Jana Královičová, Ellen Copson et al. · Human Mutation · 2011 · 137 citations · Full text

Fine-Scale Mapping at <i>IGAD1</i> and Genome-Wide Genetic Linkage Analysis Implicate <i>HLA-DQ/DR</i> as a Major Susceptibility Locus in Selective IgA Deficiency and Common Variable Immunodeficiency

Jana Královičová, Lennart Hammarström, Alessandro Plebani et al. · The Journal of Immunology · 2003 · 99 citations · Full text

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

David B. Ascher, Ottavia Spiga, Martina Sekelská et al. · European Journal of Human Genetics · 2019 · 74 citations · Full text

Branch site haplotypes that control alternative splicing

Jana Královičová, Sophie Houngninou-Molango, Angela Krämer et al. · Human Molecular Genetics · 2004 · 70 citations · Full text