Eva Holmberg

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Mariëlle Alders, Benjamin M. Hogan, Evisa Gjini et al. · Nature Genetics · 2009 · 317 citations

Ccbe1 Cause, Genetic Epidemiology, Hematology +5

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

Mechanobiology, Thin Filaments, Systems Biology +15

Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

Tommi Kainu, Suh‐Hang Hank Juo, Richard Desper et al. · Proceedings of the National Academy of Sciences · 2000 · 185 citations · Full text

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Sebastian Håkansson, Óskar Þór Jóhannsson, Unn‐Britt Johansson et al. · PubMed · 1997 · 177 citations