Ghent University Academic Bibliography

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn (UGent) , Goran Mitulovic, Veronika Reiterer, Margot Haun, Michaela M. Mayr, et al.

(2023) EMBO MOLECULAR MEDICINE. 15(4).
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe Dhooge, Delfien Syx (UGent) , Trinh Hermanns-Lê, Ingrid Hausser, Geert Mortier, Jonathan Zonana, Sofie Symoens (UGent) , Peter H. Byers and Fransiska Malfait (UGent)

(2021) GENETICS IN MEDICINE. 23(12). p.2378-2385
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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 (UGent) , Tibbe Dhooge, Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE. 22(1). p.112-123
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Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Aude Beyens (UGent) , Kyaran Van Meensel, Lore Pottie (UGent) , Riet De Rycke (UGent) , Michiel De Bruyne (UGent) , Femke Baeke (UGent) , Piet Hoebeke (UGent) , Frank Plasschaert (UGent) , Bart Loeys, Sofie De Schepper (UGent) , et al.

(2019) GENES. 10(7).
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Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño Mosquera (UGent) , Felke Steijns, Tjorven Audenaert (UGent) , Ilse Meerschaut (UGent) , Anne De Paepe (UGent) , Wouter Steyaert (UGent) , Sofie Symoens (UGent) , Paul Coucke (UGent) , Bert Callewaert (UGent) , Marjolijn Renard (UGent) , et al.

(2018) CIRCULATION-GENOMIC AND PRECISION MEDICINE. 11.
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte Gistelinck (UGent) , Ronald Y Kwon, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips (UGent) , Brecht Guillemyn (UGent) , et al.

(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Charlotte Gistelinck (UGent) , Paul Eckhard Witten (UGent) , Ann Huysseune (UGent) , Sofie Symoens (UGent) , Fransiska Malfait (UGent) , Daria Larionova (UGent) , Pascal Simoens (UGent) , Manuel Dierick (UGent) , Luc Van Hoorebeke (UGent) , Anne De Paepe (UGent) , et al.

(2016) JOURNAL OF BONE AND MINERAL RESEARCH. 31(11). p.1930-1942
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Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Delfien Syx (UGent) , Tim Van Damme (UGent) , Sofie Symoens (UGent) , Merel C Maiburg, Ingrid van de Laar, Jenny Morton, Mohnish Suri, Miguel Del Campo, Ingrid Hausser, Trinh Hermanns-Lê, et al.

(2015) HUMAN MUTATION. 36(5). p.535-547
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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy Willaert (UGent) , Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Kris Gevaert (UGent) , H. Kayserili, A. Megarbane, Geert Mortier (UGent) , J. G. Leroy, Paul Coucke (UGent) and Anne De Paepe (UGent)

(2009) JOURNAL OF MEDICAL GENETICS. 46(4). p.233-241

Academic Bibliography

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

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

Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

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