Kim De Leeneer

Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

Timothy R. Rebbeck, Nandita Mitra, Fei Wan et al. · JAMA · 2015 · 484 citations · Full text

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 298 citations · Full text

Brca1 Mutations, Genetic Testing, Genetics +17

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Machteld Baetens, Lut Van Laer, Kim De Leeneer et al. · Human Mutation · 2011 · 82 citations · Full text

Molecular Diagnosis, Genetics, Genetic Epidemiology +19

Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms

Kim De Leeneer, Ilse Coene, Bruce Poppe et al. · Clinical Chemistry · 2008 · 78 citations · Full text