prof. dr. Delfien Syx

Modeling mitochondrial myopathy in zebrafish as a translational model : from concept to improved clinical insight in aminoacyl-tRNA synthetase disorders

Lenie Vanhove (UGent) , Zoë Malfait (UGent) , Boel De Paepe (UGent) , Charlotte Grootaert (UGent) , Andreja Rajkovic (UGent) , Delfien Syx (UGent) and Arnaud Vanlander (UGent)

(2026) Belgian-Dutch Neuromuscular Study Group 2026 Annual Meeting, Abstracts.

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The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Shana Verschuere (UGent) , Sofie Symoens (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2026) JOURNAL OF INVESTIGATIVE DERMATOLOGY. 146(3). p.847-850

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Atypical glutamic acid to lysine substitution in the triple helix of type III collagen manifests as overlap between classical and vascular Ehlers-Danlos syndrome

Margot Callens (UGent) , Delfien Syx (UGent) , Shana Verschuere (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.678-679

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B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome

Romeo Milan Diana, Benjamin Jolivet, Jean-Baptiste Vincourt, Sebastien Hergalant, Gregory Francius, Yasaman Karami, Hamed Khakzad, Rebekka Wild, Marie Bourgeais, Anne Robert, et al.

(2025) JCI INSIGHT. 10(16).

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Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant

Michiel Vanhooydonck (UGent) , Sophie Debaenst (UGent) , Eva Vanbelleghem (UGent) , Hanna De Saffel (UGent) , Delfien Syx (UGent) , Patrick Sips (UGent) , Paul Coucke (UGent) , Andy Willaert (UGent) and Bert Callewaert (UGent)

(2025) BMC MEDICAL GENOMICS. 19(1).

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ADAMTS2 : more than a procollagen N-proteinase

Ruben Vanlerberghe (UGent) , Alain Colige, Anne-Marie Malfait, Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2025) GENES & DISEASES. 12(6).

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Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Eva D'haene (UGent) , Raquel Rouco, Marlies Colman (UGent) , Machteld Baetens (UGent) , Lies Vantomme (UGent) , Olivier Vanakker (UGent) , Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Guillaume Andrey, Delfien Syx (UGent) , et al.

(2025) EMBO Workshop 'Enhancer mechanics and enhanceropathies', Abstracts.

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Understanding human linkeropathies : generation of knock-in models to study of the consequences of defective proteoglycan biosynthesis

Jana De Troyer (UGent) , Zoë Malfait (UGent) , Griet De Smet (UGent) , Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2025) BeSHG 25th Anniversary Conference 'Under pressure, the shaping of our genomes', Abstracts. p.59-59

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The influence of genetic and epigenetic variations on dynamic experimental pain measures in adults with and without chronic musculoskeletal pain : a systematic review

Amber Billens (UGent) , Amber De Groote, Delfien Syx (UGent) , Mira Meeus (UGent) and Jessica Van Oosterwijck (UGent)

(2025) PAIN. 166(10). p.2236-2248

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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez Baca (UGent) , María Palomares-Bralo, Michiel Vanhooydonck (UGent) , Lisa Hamerlinck (UGent) , Eva D'haene (UGent) , Sebastian Leimbacher (UGent) , Eva Jacobs, Laurenz De Cock, Erika D'haenens (UGent) , Annelies Dheedene (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(6). p.1388-1414

Academic Bibliography

prof. dr. Delfien Syx

Modeling mitochondrial myopathy in zebrafish as a translational model : from concept to improved clinical insight in aminoacyl-tRNA synthetase disorders

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Atypical glutamic acid to lysine substitution in the triple helix of type III collagen manifests as overlap between classical and vascular Ehlers-Danlos syndrome

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome

Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant

ADAMTS2 : more than a procollagen N-proteinase

Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Understanding human linkeropathies : generation of knock-in models to study of the consequences of defective proteoglycan biosynthesis

The influence of genetic and epigenetic variations on dynamic experimental pain measures in adults with and without chronic musculoskeletal pain : a systematic review

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

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