Ghent University Academic Bibliography

Your filters: cql: issn exact "1018-4813"

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- Miscellaneous
- open access
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen Claes (UGent) , Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, et al.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.
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- Miscellaneous
Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Eva Vanbelleghem (UGent) , Tim Van Damme (UGent) , Aude Beyens (UGent) , Sofie Symoens (UGent) , Kathleen Claes (UGent) , Julie De Backer (UGent) , Ilse Meerschaut, Floris Vanommeslaeghe (UGent) , Sigurd Delanghe (UGent) , Jenneke van den Ende, et al.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.
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- Conference Paper
- C3
Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Liesbeth Claeys (UGent) , Annelies De Jaegher (UGent) , Jennifer Anckaert (UGent) , Xenia Leroy (UGent) , Tjoïlina Reyniers (UGent) , Melek Yoruk (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.316-317
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- Conference Paper
- C3
Multiple European children born with cancer predisposition following recurrent sperm donation from a mosaic TP53 carrier

Edwige Kasper, Robin de Putter (UGent) , Svetlana Lagercrantz, Mette Jorgensen, Verena Steinke-Lange, Stephanie Baert-Desurmont, Virginie Bubien, Byrjalsen Anna, Kathleen Claes (UGent) , Margaux Clement Le Choismier, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.37-37
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- Conference Paper
- C3
Exploring cfDNA copy number profiles to monitor tumor dynamics in pancreatic adenocarcinoma

Nele Vandenbussche (UGent) , LUIS ABREU DE CARVALHO (UGent) , Greet Wieme (UGent) , Bram Parton (UGent) , Béatrice Lintermans (UGent) , Suzane Moura Ribeiro (UGent) , Anne Hoorens (UGent) , Karen Geboes (UGent) , Frederik Berrevoet (UGent) and Kathleen Claes (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.531-531
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- Conference Paper
- C3
Cost-effective multiplex digital PCR quantification using universal Rainbow detection probes

Gertjan Wils (UGent) , Emma Jacobs (UGent) , Amber Declercq (UGent) , Peter Natividad D. Ceulemans, Jan Hellemans (UGent) , Frauke Coppieters (UGent) , Steve Lefever (UGent) and Jo Vandesompele (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.965-966
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- Conference Paper
- C3
DNA sample tracking for diagnostic exome sequencing : a 1-year experience

Peter Ceulemans (UGent) , Matthias De Smet (UGent) , Tom Sante (UGent) , Gertjan Wils (UGent) , Thalia Van Laethem (UGent) , Mauro Alessio Milazzo (UGent) , Jo Vandesompele (UGent) , Frauke Coppieters (UGent) , Steve Lefever (UGent) , Brecht Guillemyn (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.962-962
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- Journal Article
- A1
- open access
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock, Laura Muiño Mosquera (UGent) , Katya De Groote (UGent) , Kristof Vandekerckhove (UGent) , Joseph Panzer (UGent) , Ellen Roets (UGent) , Björn Menten (UGent) , Sofie Symoens (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. 33(8). p.1085-1089
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- Conference Paper
- C3
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Al Alam Chadi, David Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Birk, Bert Callewaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.953-953
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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

Academic Bibliography

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (vol 32, pg 479, 2024)

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Multiple European children born with cancer predisposition following recurrent sperm donation from a mosaic TP53 carrier

Exploring cfDNA copy number profiles to monitor tumor dynamics in pancreatic adenocarcinoma

Cost-effective multiplex digital PCR quantification using universal Rainbow detection probes

DNA sample tracking for diagnostic exome sequencing : a 1-year experience

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

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

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