Sofie Symoens

8PUBLICATIONS
55CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Disease surveillanceEpigenetics (incl. genome methylation and epigenomics)Infant and child healthComposite and hybrid materials
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Publications (8)

|Jul 01, 2026
Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings.

|Jul 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Joséphine Lantoine, Anne Brysse, Vinciane Dideberg

|Mar 19, 2021
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Tibbe Dhooge, Tim Van Damme, Delfien Syx

|Feb 01, 2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.

Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer

|Jul 06, 2019
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Sarah Delbaere, Tibbe Dhooge, Delfien Syx

|Mar 22, 2019
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Sheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu

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Frequent Collaborators

4 joint publications

Delfien Syx

3 joint publications

Tim Van Damme

2 joint publications

Brecht Guillemyn

2 joint publications

Tibbe Dhooge