Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. Wouter Steyaert

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

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Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Ariane Van Tongerloo (UGent) , Hannah Verdin (UGent) , Wouter Steyaert (UGent) , Paul Coucke (UGent) and Sandra Janssens (UGent)

(2024) JOURNAL OF GENETIC COUNSELING. 34(1).
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- Journal Article
- A1
- open access
Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert (UGent) , Elke de Boer, Lisenka E. L. M. Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(2). p.200-208
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- Journal Article
- A1
- open access
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Wouter Steyaert (UGent) , Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, et al.

(2023) NATURE COMMUNICATIONS. 14(1).
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- Journal Article
- A1
- open access
DeNovoCNN : a deep learning approach to de novo variant calling in next generation sequencing data

Gelana Khazeeva, Karolis Sablauskas, Bart van der Sanden, Wouter Steyaert (UGent) , Michael Kwint, Dmitrijs Rots, Max Hinne, Marcel van Gerven, Helger Yntema, Lisenka Vissers, et al.

(2022) NUCLEIC ACIDS RESEARCH. 50(17).
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- Journal Article
- A1
- open access
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Elke de Boer, Burcu Yaldiz, Anne-Sophie Denomme-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert (UGent) , Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(1).
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- Journal Article
- A1
- open access
G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin

Matthew J. Varney, Wouter Steyaert (UGent) , Paul Coucke (UGent) , Joris Delanghe (UGent) , David E. Uehling, Babu Joseph, Richard Marcellus, Rima Al-awar and Jeffrey L. Benovic

(2022) JOURNAL OF BIOLOGICAL CHEMISTRY. 298(10).
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Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2

Wouter Steyaert (UGent) , Matthew J. Varney, Jeffrey L. Benovic, John Creemers, Marijn Speeckaert (UGent) , Paul Coucke (UGent) and Joris Delanghe (UGent)

(2022) CLINICA CHIMICA ACTA. 532. p.79-83
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse Meerschaut, Wouter Steyaert (UGent) , Thierry Bové (UGent) , Katrien Francois (UGent) , Thomas Martens (UGent) , Katya De Groote (UGent) , Hans De Wilde (UGent) , Laura Muiño Mosquera (UGent) , Joseph Panzer (UGent) , Kristof Vandekerckhove (UGent) , et al.

(2022) GENES. 13(7).
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- Journal Article
- A1
- open access
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

Wouter Steyaert (UGent) , Shana Verschuere (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2021) JOURNAL OF GENETICS AND GENOMICS. 48(4). p.289-299
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- Conference Paper
- C3
G protein-coupled receptor kinase 6 (GRK6) regulation of insulin processing and secretion

Matthew Varney, Wouter Steyaert (UGent) , Paul Coucke (UGent) , Joris Delanghe (UGent) and Jeffrey Benovic

(2021) FASEB JOURNAL. 35(suppl. 1).

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