Sofie Symoens

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Bart Loeys, Ulrike Schwarze, Tammy M. Holm et al. · New England Journal of Medicine · 2006 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

Brian Kelley, Fransiska Malfait, Luisa Bonafé et al. · Journal of Bone and Mineral Research · 2010 · 191 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Tryptophan fluorescence study of the interaction of penetratin peptides with model membranes

Bart Christiaens, Sofie Symoens, Stefan Vanderheyden et al. · European Journal of Biochemistry · 2002 · 189 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Fransiska Malfait, Sofie Symoens, Julie De Backer et al. · Human Mutation · 2007 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens, Delfien Syx, Fransiska Malfait et al. · Human Mutation · 2012 · 162 citations

Life Sciences, Genetics, Molecular Genetics +14