Monique M. van Veghel–Plandsoen

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

L.C. Verhoog, A.M.W. van den Ouweland, E. Berns et al. · European Journal of Cancer · 2001 · 78 citations

Medicine, Genetics, Molecular Genetics +13

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Jordy Dekker, Rachel Schot, Michiel Bongaerts et al. · The American Journal of Human Genetics · 2023 · 60 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Ans M.W. van den Ouweland, Peter Elfferich, R. J. Lamping et al. · Familial Cancer · 2010 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deletion of Exons 1a-2 of <i>BRCA1</i> : A Rather Frequent Pathogenic Abnormality

Ans M.W. van den Ouweland, Winand N.M. Dinjens, Lambert C. J. Dorssers et al. · Genetic Testing and Molecular Biomarkers · 2009 · 20 citations

Life Sciences, Genetics, Molecular Genetics +15

Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma

Daniël P. de Bruyn, Natasha M. van Poppelen, Tom Brands et al. · Investigative Ophthalmology & Visual Science · 2024 · 16 citations · Full text

Medicine, Molecular Genetics, Oncology +17