Karolina Škvárová Kramarzová

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival

Csaba Bödör, Aline Renneville, Matthew Smith et al. · Haematologica · 2012 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<scp>TLR8</scp>/<scp>TLR7</scp> dysregulation due to a novel <i>TLR8</i> mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins

Martina Fejtková, Martina Suková, Kateřina Hložková et al. · American Journal of Hematology · 2022 · 45 citations

Life Sciences, Genetics, Immunology +17

Real-time PCR quantification of major Wilms’ tumor gene 1 (WT1) isoforms in acute myeloid leukemia, their characteristic expression patterns and possible functional consequences

Karolina Škvárová Kramarzová, Jan Stuchlý, André Willasch et al. · Leukemia · 2012 · 36 citations

Life Sciences, Genetics, Molecular Biology +17

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Adriana A. de Jesus, Guibin Chen, Dan Yang et al. · Nature Communications · 2023 · 35 citations · Full text

Medicine, Immunology, Pathology +17

CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells

Karolina Škvárová Kramarzová, Mark J. Osborn, Beau R. Webber et al. · International Journal of Molecular Sciences · 2017 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16