Ane Y. Steffensen

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Ane Y. Steffensen, Mette Dandanell, Lars Jønson et al. · European Journal of Human Genetics · 2014 · 82 citations · Full text

Genetics, Molecular Biology, Pathology +18

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Mads Thomassen, Ana Blanco, Marco Montagna et al. · Breast Cancer Research and Treatment · 2011 · 64 citations · Full text

Collaborative Report, Medicine, Genetics +10

The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

Thomas van Overeem Hansen, Ane Y. Steffensen, Lars Jønson et al. · Breast Cancer Research and Treatment · 2009 · 35 citations · Full text

Genome Instability, Exon Skipping, Genetic Disorder +8

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

Lise Barlebo Ahlborn, Mette Dandanell, Ane Y. Steffensen et al. · Breast Cancer Research and Treatment · 2015 · 27 citations · Full text

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Lars Jønson, Lise Barlebo Ahlborn, Ane Y. Steffensen et al. · Breast Cancer Research and Treatment · 2016 · 26 citations

Cancer Risk, Medicine, Genetics +11