Ghent University Academic Bibliography

Journal Article
A1
open access

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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Journal Article
A1
open access

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Snežana Hinić, Cezary Cybulski, Rachel S. Van der Post, Janet R. Vos, Janneke Schuurs-Hoeijmakers, Fulvia Brugnoletti, Saskia Koene, Lilian Vreede, Wendy A.G. van Zelst-Stams, C. Marleen Kets, et al.

(2024) GENETICS IN MEDICINE. 26(5).

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Journal Article
A1
open access

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts (UGent) , Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808

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A1
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A nuclear target sequence capture probe set for phylogeny reconstruction of the charismatic plant family Bignoniaceae

Luiz Fonseca (UGent) , Mónica M. Carlsen, Paul V. A. Fine and Lúcia G. Lohmann

(2023) FRONTIERS IN GENETICS. 13.

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Journal Article
A1
open access

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas Clabout, Laurence Maes (UGent) , Frederic Acke (UGent) , Wim Wuyts, Kristof Van Schil, Paul Coucke (UGent) , Sandra Janssens (UGent) and Els De Leenheer (UGent)

(2023) GENES. 14(1).

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Journal Article
A1
open access

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, et al.

(2023) GENOME MEDICINE. 15(1).

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Journal Article
A1
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Systematic comparison of experimental and human obstructive cholestasis reveals conservation of canonical pathway activation and biomarkers relevant for cholestatic liver disease

Eva Gijbels, Kevin De Muynck (UGent) , Bart Vanderborght (UGent) , Tim Meese, Filip Van Nieuwerburgh (UGent) , Aude Vanlander, Frederik Berrevoet (UGent) , Bart Hendrikx (UGent) , Anne Hoorens (UGent) , Hans Van Vlierberghe (UGent) , et al.

(2023) GENES & DISEASES. 10(1). p.18-21

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Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies Dheedene (UGent) , Erika D'haenens (UGent) , Evelien Pouillie (UGent) , Sarah Delbaere (UGent) , Olivier Vanakker (UGent) , Bert Callewaert (UGent) and Björn Menten (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.460-460

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Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah Delbaere (UGent) , Machteld Baetens (UGent) , Candy Kumps (UGent) , Ellen Roets (UGent) , Noortje Van Oostrum (UGent) , Bert Callewaert (UGent) , Sandra Janssens (UGent) , Olivier Vanakker (UGent) and Björn Menten (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.356-356

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open access

European standard clinical practice : key issues for the medical care of individuals with familial leukemia

Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C. Jongmans, Alexandra Kolenova, et al.

(2023) EUROPEAN JOURNAL OF MEDICAL GENETICS. 66(4).

Academic Bibliography

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

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

A nuclear target sequence capture probe set for phylogeny reconstruction of the charismatic plant family Bignoniaceae

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Systematic comparison of experimental and human obstructive cholestasis reveals conservation of canonical pathway activation and biomarkers relevant for cholestatic liver disease

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

European standard clinical practice : key issues for the medical care of individuals with familial leukemia

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