1. The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Issue 5 (6th February 2019) Authors: Naessens, Sarah; De Zaeytijd, Julie; Syx, Delfien; Vandenbroucke, Roosmarijn E.; Smeets, Frédéric; Van Cauwenbergh, Caroline; Leroy, Bart P.; Peelman, Frank; Coppieters, Frauke Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Issue 5 (4th March 2020) Authors: Lautrup, Charlotte K.; Teik, Keng W.; Unzaki, Ai; Mizumoto, Shuji; Syx, Delfien; Sin, Heng H.; Nielsen, Irene K.; Markholt, Sara; Yamada, Shuhei; Malfait, Fransiska; Matsumoto, Naomichi; Miyake, Noriko; Kosho, Tomoki Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges. Issue 4 (19th November 2021) Authors: Malfait, Fransiska; Colman, Marlies; Vroman, Robin; De Wandele, Inge; Rombaut, Lies; Miller, Rachel E.; Malfait, Anne‐Marie; Syx, Delfien Other Names: Hakim Alan guestEditor.; Tinkle Brad guestEditor.; Francomano Clair A. guestEditor. Journal: American journal of medical genetics Issue: Volume 187:Issue 4(2021) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers–Danlos syndrome. Issue 10 (October 2020) Authors: Syx, Delfien; Miller, Rachel E.; Obeidat, Alia M.; Tran, Phuong B.; Vroman, Robin; Malfait, Zoë; Miller, Richard J.; Malfait, Fransiska; Malfait, Anne-Marie Journal: Pain Issue: Volume 161:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Issue 6 (6th April 2021) Authors: Dhooge, Tibbe; Van Damme, Tim; Syx, Delfien; Mosquera, Laura M.; Nampoothiri, Sheela; Radhakrishnan, Anil; Simsek‐Kiper, Pelin O.; Utine, Gülen E.; Bonduelle, Maryse; Migeotte, Isabelle; Essawi, Osama; Ceylaner, Serdar; Al Kindy, Adila; Tinkle, Brad; Symoens, Sofie; Malfait, Fransiska Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗