Steyaert Wouter - Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre

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论文共 64 篇作者统计合作学者相似作者

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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,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov, Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen

Nature Medicinepp.1-12, (2025)

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Decoding Phenotypic Variability in Osteogenesis Imperfecta: Zebrafish As a Model for Molecular and Ultrastructural Insights

Sophie Debaenst,Lauren Sahd, Caitlin Debaene,Tamara Jarayseh,Hanna De Saffel,Jan Willem Bek,Wouter Steyaert,Delphi Van Haver,Sara Dufour, Francis Impens,Paul Coucke,Adelbert De Clercq,Andy Willaert

biorxiv（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

Journal of genetic counselingno. 1 (2024): e1899-e1899

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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, Heleen Diepstra,Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees van Roozendaal,Jettie Sikkema-van Engelen,Wouter Steyaert,Marjan M. Weiss,Helger G. Yntema,Tuomo Mantere,Mofareh S. Alzahrani,Koen van Aerde,Beata Derfalvi,Eissa Ali Faqeih,Stefanie S. V. Henriet, Elise van Hoof, Eman Idressi, Thomas B. Issekutz,Marjolijn C. J. Jongmans,Riikka Keski-Filppula,Ingrid Krapels,Maroeska te Loo,Catharina M. Mulders-Manders,Jaap ten Oever,Judith Potjewijd, Nora Tarig Sarhan, Marjan C. Slot,Paulien A. Terhal, Herman Thijs,Anthony Vandersteen,Els K. Vanhoutte,Frank van de Veerdonk,Gijs van Well,Mihai G. Netea,Annet Simons,Alexander Hoischen

CLINICAL IMMUNOLOGY (2024)

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Systematic Pan-European Reanalysis of 6004 Genetically Undiagnosed Rare Disease Families Yields 506 New Diagnoses

Wouter Steyaert,Steven Laurie,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna Sommer,Anthony Brookes,Han Brunner,Holm Graessner,Olaf Riess,Katja Lohmann,Richarda de Voer,Ana Topf,Lisenka Vissers,Sergi Beltran,Alexander Hoischen

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 62-63

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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,Julien Gagneur,Kornelia Ellwanger,Ronny Derks,Marjan Weiss,Amber den Ouden,Simone van den Heuvel,Hilde Swinkels, Nick Zomer,Marloes Steehouwer,Luke O'Gorman,Galuh Astuti,Kornelia Neveling,Rebecca Schüle,Jishu Xu,Matthis Synofzik,Danique Beijer,Holger Hengel,Ludger Schöls,Kristl G Claeys,Jonathan Baets,Liedewei Van de Vondel,Alessandra Ferlini,Rita Selvatici,Heba Morsy, Marwa Saeed Abd Elmaksoud,Volker Straub,Juliane Müller,Veronica Pini,Luke Perry,Anna Sarkozy,Irina Zaharieva,Francesco Muntoni,Enrico Bugiardini,Kiran Polavarapu,Rita Horvath,Evan Reid,Hanns Lochmüller,Marco Spinazzi,Marco Savarese, Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE,Leslie Matalonga,Steven Laurie,Han G Brunner,Holm Graessner,Sergi Beltran,Stephan Ossowski,Lisenka E L M Vissers,Christian Gilissen,Alexander Hoischen

medRxiv the preprint server for health sciences (2024)

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Identification of Clinically Relevant Variants in Homologous Regions in 41,755 Exomes

Wouter Steyaert,Marloes Steehouwer,Lonneke Haer-Wigman,Rolph Pfundt,Sander Stegmann,Elke de Boer,Helger Yntema,Han Brunner,Alexander Hoischen,Christian Gilissen

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 603-603

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The Reanalysis of Large Exome Sequencing Datasets by Mobile Element Insertion Detection Tools Identified Causal Pathogenic Variants

Robin Wijngaard,German Demidov,Steven Laurie,Burcu Yaldiz,Wouter Steyaert,Jordi Corominas Galbany,Luke O'Gorman,Christian Gilissen

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 612-612

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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,Juliet Hampstead,Elke de Boer,Alexander Stegmann,Helger Yntema,Erik-Jan Kamsteeg,Han Brunner,Alexander Hoischen,Christian Gilissen

Nature Communicationsno. 1 (2023)

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