1. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. (16th January 2019) Authors: Guillemyn, Brecht; Kayserili, Hülya; Demuynck, Lynn; Sips, Patrick; De Paepe, Anne; Syx, Delfien; Coucke, Paul J; Malfait, Fransiska; Symoens, Sofie Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. Issue 10 (20th August 2018) Authors: Beyens, Aude; Moreno‐Artero, Ester; Bodemer, Christine; Cox, Helen; Gezdirici, Alper; Yilmaz Gulec, Elif; Kahloul, Najoua; Khau Van Kien, Philippe; Ogur, Gonul; Harroche, Annie; Vasse, Marc; Salhi, Aïcha; Symoens, Sofie; Hadj‐Rabia, Smail; Callewaert, Bert Other Names: Bauer Johann W. guestEditor.; Bodemer Christine guestEditor.; Schmuth Matthias guestEditor. Journal: Experimental dermatology Issue: Volume 28:Issue 10(2019) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome. (22nd January 2019) Authors: Syx, Delfien; De Wandele, Inge; Symoens, Sofie; De Rycke, Riet; Hougrand, Olivier; Voermans, Nicol; De Paepe, Anne; Malfait, Fransiska Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018) Authors: Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress. Issue 4 (14th March 2023) Authors: El‐Gazzar, Ahmed; Voraberger, Barbara; Rauch, Frank; Mairhofer, Mario; Schmidt, Katy; Guillemyn, Brecht; Mitulović, Goran; Reiterer, Veronika; Haun, Margot; Mayr, Michaela M; Mayr, Johannes A; Kimeswenger, Susanne; Drews, Oliver; Saraff, Vrinda; Shaw, Nick; Fratzl‐Zelman, Nadja; Symoens, Sofie; F... Journal: EMBO molecular medicine Issue: Volume 15:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome. Issue 10 (26th July 2021) Authors: Colman, Marlies; Syx, Delfien; De Wandele, Inge; Dhooge, Tibbe; Symoens, Sofie; Malfait, Fransiska Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa. Issue 1 (13th August 2012) Authors: Callewaert, Bert; Su, Chi‐Ting; Van Damme, Tim; Vlummens, Philip; Malfait, Fransiska; Vanakker, Olivier; Schulz, Bianca; Mac Neal, Meghan; Davis, Elaine C.; Lee, Joseph G.H.; Salhi, Aicha; Unger, Sheila; Heimdal, Ketil; De Almeida, Salome; Kornak, Uwe; Gaspar, Harald; Bresson, Jean‐Luc; Prescott,... Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. Issue 1 (27th October 2020) Authors: Beyens, Aude; Boel, Annekatrien; Symoens, Sofie; Callewaert, Bert Journal: Clinical genetics Issue: Volume 99:Issue 1(2021) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. (21st May 2015) Authors: Syx, Delfien; Guillemyn, Brecht; Symoens, Sofie; Sousa, Ana Berta; Medeira, Ana; Whiteford, Margo; Hermanns‐Lê, Trinh; Coucke, Paul J; De Paepe, Anne; Malfait, Fransiska Journal: Journal of bone and mineral research Issue: Volume 30:Number 8(2015:Aug.) Page Start: 1445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery. Issue 5 (13th March 2013) Authors: Solomons, Joyce; Coucke, Paul; Symoens, Sofie; Cohen, Marta C.; Pope, F. Michael; Wagner, Bart E.; Sobey, Glenda; Black, Rebecca; Cilliers, Deirdre Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗