Benedicte Paus

About

Benedicte Paus is a Norwegian geneticist and clinical researcher whose work has made significant contributions to our understanding of Marfan syndrome (MFS) and related connective tissue disorders. Her research focuses primarily on molecular genetics, genotype-phenotype correlations, and the development of efficient diagnostic strategies for monogenic disorders. Paus's most influential work explores the relationship between mutations in the *FBN1* gene — which encodes fibrillin-1 — and the clinical presentation of Marfan syndrome. Her 2007 study, examining 44 unrelated Norwegian patients, tackled the complex challenge of predicting prognosis from genotype data, a question with direct implications for prophylactic treatment and clinical surveillance. This work has garnered 34 citations, underscoring its relevance to both researchers and clinicians managing MFS patients. Complementing this, her 2006 methodological paper introduced a streamlined approach to *FBN1* mutation detection using automated sample preparation and direct sequencing, accumulating 20 citations. This contribution was particularly valuable given the gene's complexity — spanning 65 exons — and helped advance the feasibility of routine genetic testing. Together, Paus's research has meaningfully shaped diagnostic practices and genetic counseling for patients with fibrillinopathies.

Research Focus

Key Achievements

Top Papers

1. 1
   Search for correlations between <i>FBN1</i> genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

   34 citations · 2007
2. 2
   Rapid and Efficient <i>FBN1</i> Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy

   20 citations · 2006

Key Collaborators

Contact & Links