Ghent University Academic Bibliography

Your filters: cql: issn exact "1476-5438"

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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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CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Münevver Burcu Cicekdal (UGent) , Fabiola Ceroni, Richard Holt, Thomas Naert (UGent) , Soeren S. Lienkamp, Elena Sorokin, Elena Semina, Nicolas Chassaing, Nicola Ragge, Elfride De Baere (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.247-247
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Cancer prognosis in PTEN Hamartoma Tumor Syndrome : a European cohort study

Linda Hendricks, Katja Verbeek, Hilde Brems, Robin de Putter (UGent) , Lenka Foretova, Chrystelle Colas, Patrick Benusiglio, Claude Houdayer, Arne Jahn, Verena Steinke-Lange, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.563-564
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Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases

Nikolas Pontikos, William Woof, Miriam Bauwens (UGent) , Saoud Al-Khuzaei, Behnam Javanmardi, Michalis Georgiou, Malena Daich Varela, Thales Antonio Cabral De Guimaraes, Muhammad Moghul, Alice Davidson, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.5-6
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Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey, Giulia Ascari (UGent) , Münevver Burcu Cicekdal (UGent) , Eva D'haene (UGent) , Quinten Mahieu (UGent) , Hanna De Saffel (UGent) , Andy Willaert (UGent) , Kris Vleminckx (UGent) , Juan Jesus Tena-Aguilar, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.39-40
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Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

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.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(9). p.1086-1094
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Clinical impact of RNA-sequencing in diagnostics

Laurenz De Cock, Erika D'haenens (UGent) , Sarah Vergult (UGent) , Lies Vantomme (UGent) , Annelies Dheedene (UGent) , Robin de Putter (UGent) , Tim Van Damme (UGent) , Jo Sourbron (UGent) , Bert Callewaert (UGent) , Olivier Vanakker (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.648-648
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Knock-in of disease-related variants in the zebrafish model organism

Michiel Vanhooydonck (UGent) , Elyne De Neef (UGent) , Hanna De Saffel (UGent) , Annekatrien Boel (UGent) , Kathleen Claes (UGent) , Andy Willaert (UGent) and Bert Callewaert (UGent)

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1776-1777
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Reconciling the biomedical data commons and the GDPR : three lessons from the EUCAN ELSI collaboratory

Alexander Bernier, Fruzsina Molnár-Gábor, Bartha M. Knoppers, Pascal Borry, Priscilla M. D. G. Cesar, Thijs Devriendt, Melanie Goisauf, Madeleine Murtagh, Pilar Nicolás Jiménez, Mikel Recuero, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32. p.69-76
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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

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

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32. p.479-488

Academic Bibliography

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

CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Cancer prognosis in PTEN Hamartoma Tumor Syndrome : a European cohort study

Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases

Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Clinical impact of RNA-sequencing in diagnostics

Knock-in of disease-related variants in the zebrafish model organism

Reconciling the biomedical data commons and the GDPR : three lessons from the EUCAN ELSI collaboratory

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

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