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

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论文共 53 篇作者统计合作学者相似作者

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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,Elke de Boer,Lisenka E. L. M. Vissers,Erik-Jan Kamsteeg,Rolph Pfundt,Hilde Swinkels,Amber den Ouden,

EUROPEAN JOURNAL OF HUMAN GENETICSno. 2 (2024): 200-208

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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 counseling (2024)

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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,Dmitrijs Rots,Max Hinne,Marcel van Gerven,Helger Yntema,Lisenka Vissers,Christian Gilissen

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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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,

Clinical immunology (Orlando, Fla) (2024): 110375-110375

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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,

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,

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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SNV-InDel Working Group: Results and Lessons Learned from the Analysis of 22,035 Exomes and Genomes from 6 European Reference Networks

Leslie Matalonga,Ida Paramonov,Wouter Steyaert,Heba Morsy,Daniel Daniš, Lennart Johanson,Thiloka Ratnaike,Jana Vandrovcová,Elke De Boer,Dagmar Wieczorek,Enzo Cohen, Marcos Fernández,

HAL (Le Centre pour la Communication Scientifique Directe) (2023)

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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,

Nature communicationsno. 1 (2023): 6845-6845

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