Ghent University Academic Bibliography

Your filters: cql: author="Steyaert, Wouter" or (type any "bookEditor issueEditor" and editor="Steyaert, Wouter")

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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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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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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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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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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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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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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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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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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).

Academic Bibliography

Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2

G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin

DeNovoCNN : a deep learning approach to de novo variant calling in next generation sequencing data

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

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

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