Arjen R. Mensenkamp

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

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

Bethan S. Jones, Emma Jones, Stephanie A. Bonney et al. · Nature Genetics · 2003 · 383 citations

Copii Vesicles, Proteinlipid Interaction, Signal Transduction +14

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23

<i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Nelly Burnichon, Alberto Cascón, Francesca Schiavi et al. · Clinical Cancer Research · 2012 · 321 citations · Full text

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

Arjen R. Mensenkamp, Ingrid P. Vogelaar, Wendy A.G. van Zelst–Stams et al. · Gastroenterology · 2013 · 320 citations

Genome Instability, Somatic Variant, Somatic Mutations +9