Ghent University Academic Bibliography

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx (UGent) , Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait (UGent) , et al.

(2020) MOLECULAR GENETICS & GENOMIC MEDICINE. 8(5).
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Clinical implementation of gene panel testing for lysosomal storage diseases

A Gheldof, S Seneca, K Stouffs, W Lissens, A Jansen, H Laeremans, Patrick Verloo (UGent) , AS Schoonjans, M Meuwissen, D Barca, et al.

(2019) MOLECULAR GENETICS & GENOMIC MEDICINE. 7(2).
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Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome

Laura Muiño Mosquera (UGent) , Fre Bauters (UGent) , Karlien Dhondt (UGent) , Hans De Wilde (UGent) , Luc Jordaens, Katya De Groote (UGent) , Daniël De Wolf (UGent) , Katrien Hertegonne (UGent) and Julie De Backer (UGent)

(2019) MOLECULAR GENETICS & GENOMIC MEDICINE. 7(8).
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Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene

Julie De Backer (UGent) and Alan C Braverman

(2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(4). p.648-652
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Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama Essawi (UGent) , Sofie Symoens (UGent) , Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert (UGent) , Tamer Essawi, Bert Callewaert (UGent) , Anne De Paepe (UGent) , Fransiska Malfait (UGent) , et al.

(2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(1). p.15-26
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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Galuh DN Astuti, Vincent Sun, Miriam Bauwens (UGent) , Ditta Zobor, Bart Leroy (UGent) , Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, et al.

(2015) MOLECULAR GENETICS & GENOMIC MEDICINE. 3(1). p.14-29

Academic Bibliography

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Clinical implementation of gene panel testing for lysosomal storage diseases

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome

Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

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