Ghent University Academic Bibliography

Journal Article
A1
open access

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele (UGent) , Karolina Kaminska, Katarina Jovanovic, Pascal Escher, Filip Van Den Broeck (UGent) , Francesca Cancellieri, Vasileios Toulis, Bart Leroy (UGent) , et al.

(2025) HUMAN MOLECULAR GENETICS.

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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Annekatrien Boel (UGent) , Joyce Burger, Marine Vanhomwegen (UGent) , Aude Beyens (UGent) , Marjolijn Renard (UGent) , Sander Barnhoorn, Christophe Casteleyn (UGent) , Dieter Reinhardt, Benedicte Descamps (UGent) , Christian Vanhove (UGent) , et al.

(2020) HUMAN MOLECULAR GENETICS. 29(9). p.1476-1488

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Journal Article
A1
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A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht Guillemyn (UGent) , Hülya Kayserili, Lynn Demuynck (UGent) , Patrick Sips (UGent) , Anne De Paepe (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) , Fransiska Malfait (UGent) and Sofie Symoens (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(11). p.1801-1809

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Journal Article
A1
open access

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Michiel Krols, Bob Asselbergh, Riet De Rycke (UGent) , Vicky De Winter, Alexandre Seyer, Franz-Josef Mueller, Ingo Kurth, Geert Bultynck, Vincent Timmerman and Sophie Janssens (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(4). p.615-627

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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Delfien Syx (UGent) , Inge De Wandele (UGent) , Sofie Symoens (UGent) , Riet De Rycke (UGent) , Olivier Hougrand, Nicol Voermans, Anne De Paepe (UGent) and Fransiska Malfait (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(11). p.1853-1864

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Journal Article
A1
open access

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haene (UGent) , Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme (UGent) , Sien Van Loo, Francisco Avila Cobos (UGent) , Karen Verboom, Reut Eshel, Rawan Alatawna, Björn Menten (UGent) , et al.

(2019) HUMAN MOLECULAR GENETICS. 28(5). p.818-827

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Journal Article
A1
open access

Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

Diana van Der Plaat, Judith M Vonk, Natalie Terzikhan, Kim de Jong, Maaike de Vries, Sacha La Bastide-van Gemert, Cleo C van Diemen, Lies Lahousse (UGent) , Guy Brusselle (UGent) , Ivana Nedeljkovic, et al.

(2019) HUMAN MOLECULAR GENETICS. 28(15). p.2477-2485

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Journal Article
A1
open access

FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins

J Steyaert, W Scheveneels, J Vanneste, P Van Damme, W Robberecht, P Callaerts, Elke Bogaert (UGent) and L Van Den Bosch

(2018) HUMAN MOLECULAR GENETICS. 27(23). p.4103-4116

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van Damme (UGent) , Xiaomeng Pang, Brecht Guillemyn (UGent) , Sandrine Gulberti, Delfien Syx (UGent) , Riet De Rycke (UGent) , Olivier Kaye, Christine E. M. de Die-Smulders, Rolph Pfundt, Ariana Kariminejad, et al.

(2018) HUMAN MOLECULAR GENETICS. 27(20). p.3475-3487

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Journal Article
A1
open access

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

Ivana Nedeljkovic, Lies Lahousse (UGent) , Elena Carnero-Montoro, Alen Faiz, Judith M Vonk, Kim de Jong, Diana A van der Plaat, Cleo C van Diemen, Maarten van den Berge, Ma'en Obeidat, et al.

(2018) HUMAN MOLECULAR GENETICS. 27(2). p.396-405

Academic Bibliography

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

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