Sofie Symoens

Publication Activity (10 Years)

Years Active: 2016-2021
Publications (10 Years): 7

Top Topics

Extracellular Matrix

Duchenne Muscular Dystrophy

Intellectual Disability

Tissue Engineering

Top Venues

American journal of medical genetics. Part A

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Delfien Syx, Yoshihiro Ishikawa, Jan M Gebauer, Sergei P Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B Gould, Ulrich Baumann, Hans Peter Bächinger, Fransiska Malfait
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta. PLoS genetics 17 (2) (2021)
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human mutation 42 (6) (2021)
Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen B M Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers. JMIR medical informatics 9 (7) (2021)
Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier M Vanakker, Teddy Jégu, Sofie Symoens, Fransiska Malfait
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. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Sheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu, Sujatha Jagadeesh, Dhanya Yesodharan, Beena Suresh, Serap Turan, Sofie Symoens, Fransiska Malfait
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. American journal of medical genetics. Part A 179 (6) (2019)
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, Anne De Paepe, Karin E M Diderich, Fransiska Malfait, Paul J Coucke
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. American journal of medical genetics. Part A 173 (4) (2017)
Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, Koen Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genetics in medicine : official journal of the American College of Medical Genetics 18 (9) (2016)