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 · 198 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

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 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Life Sciences, Genetics, Immunology +17

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 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Branch site haplotypes that control alternative splicing

Jana Královičová, Sophie Houngninou-Molango, Angela Krämer et al. · Human Molecular Genetics · 2004 · 71 citations · Full text

Life Sciences, Genetics, Molecular Biology +14