Ghent University Academic Bibliography

Journal Article
A1
open access

Neonatal lactic acidosis explained by LARS2 defect

Boel De Paepe (UGent) , Joél Smet (UGent) , Robert Kopajtich, Holger Prokisch, Rudy Van Coster (UGent) and Arnaud Vanlander (UGent)

(2023) PEDIATRIC RESEARCH. 93. p.740-743

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Journal Article
A1
open access

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

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Miscellaneous
open access

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)

Shanna Dewaele (UGent) , Louis Delhaye (UGent) , Boel De Paepe (UGent) , Eric James de Bony, Jilke De Wilde (UGent) , Katrien Vanderheyden, Jasper Anckaert (UGent) , Nurten Yigit (UGent) , Justine Nuytens (UGent) , Eveline Vanden Eynde (UGent) , et al.

(2022) ONCOGENE. 41(1). p.146-146

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Journal Article
A1
open access

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al.

(2022) GENOME MEDICINE. 14(1).

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Journal Article
A1
open access

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Shanna Dewaele (UGent) , Louis Delhaye (UGent) , Boel De Paepe (UGent) , Eric de Bony de Lavergne (UGent) , Jilke De Wilde (UGent) , Katrien Vanderheyden, Jasper Anckaert (UGent) , Nurten Yigit (UGent) , Justine Nuytens (UGent) , Eveline Vanden Eynde (UGent) , et al.

(2022) ONCOGENE. 41(1). p.15-25

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Journal Article
A1
open access

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Sofie Boterberg (UGent) , Elise Vantroys, Boel De Paepe (UGent) , Rudy Van Coster (UGent) and Herbert Roeyers (UGent)

(2022) PLOS ONE. 17(9).

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Expanded phenotyping by microscopic imaging

Frank Roels (UGent) , Patrick Verloo (UGent) , Boel De Paepe (UGent) , Jan De Bleecker (UGent) and Rudy Van Coster (UGent)

(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69

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Journal Article
A1
open access

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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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy Kumps (UGent) , Erika D'haenens (UGent) , Sarah Vergult (UGent) , Jasmine Leus, Rudy Van Coster (UGent) , Anna Jansen, Koen Devriendt, Anna Oostra (UGent) and Olivier Vanakker (UGent)

(2021) CLINICAL GENETICS. 99(3). p.449-456

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Journal Article
A1
open access

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

Karen Rosier, Molly T. McDevitt, Joél Smet (UGent) , Brendan J. Floyd, Maxime Verschoore (UGent) , Maria J. Marcaida, Craig A. Bingman, Irma Lemmens (UGent) , Matteo Dal Peraro, Jan Tavernier (UGent) , et al.

(2021) ISCIENCE. 24(12).

Academic Bibliography

Neonatal lactic acidosis explained by LARS2 defect

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Expanded phenotyping by microscopic imaging

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

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

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