Publications by authors named "Wouter Steyaert"

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The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Vicente A Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Wouter Steyaert

Nat Genet· October 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans

Nat Med· August 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina

Genome Res· April 2025

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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo, Hannah Verdin, Wouter Steyaert, Paul J Coucke, Sandra Janssens

J Genet Couns· February 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans

Nat Med· February 2025

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Emil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, Janneke H Schuurs-Hoeijmakers, Galuh Astuti, Wouter Steyaert

Clin Immunol· November 2024

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina

medRxiv· May 2024

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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

Eur J Hum Genet· February 2024

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Correction: 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

Eur J Hum Genet· February 2024

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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer

Nat Commun· October 2023

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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, Paul J Coucke, Joris R Delanghe, David E Uehling

J Biol Chem· October 2022

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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, Michael Kwint

Nucleic Acids Res· September 2022

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Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2.
Wouter Steyaert, Matthew J Varney, Jeffrey L Benovic, John Creemers, Marijn M Speeckaert

Clin Chim Acta· July 2022

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Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Ilse Meerschaut, Wouter Steyaert, Thierry Bové, Katrien François, Thomas Martens

Genes (Basel)· July 2022

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Wouter Steyaert

Orphanet J Rare Dis· May 2022

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, , Wouter Steyaert

Eur J Hum Genet· September 2021

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, , Wouter Steyaert

Eur J Hum Genet· September 2021

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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
Wouter Steyaert, Shana Verschuere, Paul J Coucke, Olivier M Vanakker

J Genet Genomics· April 2021

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Wouter Steyaert

Am J Hum Genet· August 2020

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A clinical scoring system for congenital contractural arachnodactyly.
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat

Genet Med· January 2020

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Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte

Am J Med Genet A· December 2019

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BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.
Wouter Steyaert, Annekatrien Boel, Paul Coucke, Andy Willaert

Methods Mol Biol· May 2019

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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.
Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe

Dis Model Mech· October 2018

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Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
Annekatrien Boel, Wouter Steyaert, Nina De Rocker, Björn Menten, Bert Callewaert

Sci Rep· October 2018

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IRF2BPL Is Associated with Neurological Phenotypes.
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Wouter Steyaert

Am J Hum Genet· September 2018

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