Jeroen van Reeuwijk - Department of Human Genetics, Radboud University Medical Centre

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Bio

My research is focused on improving the clinical interpretation of (non-coding) genetic variation as part of the implementation of whole-genome sequencing in routine genome diagnostics. In line with this, I am exploring Human Phenotype Ontology (HPO) to improve the registration of clinical features and its use in diagnostic interpretation of genomic variants.

Research Interests

Papers共 85 篇Author StatisticsCo-AuthorSimilar Experts

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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, 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, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, 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 medicine (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,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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PhenomAD-NDD: the Phenomics Aggregation Database of Comorbidities in 42,411 Pediatric Individuals with NeuroDevelopmental Disorders

Alexander Dingemans,Sandra Jansen,Jeroen van Reeuwijk, Claudia Hellebrekers,Nicole de Leeuw,Rolph Pfundt,Janneke Schuurs-Hoeijmakers,Bregje van Bon,Charlotte Ockeloen,Carlo Marcelis,Marjolein Willemsen, Eline van der Sluijs,Gijs Santen,Frank Kooy, Anneke Vulto-van Silfhout,Tjitske Kleefstra,David Koolen,Lisenka Vissers,Bert B. A. de Vries

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 60-60

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Genome Sequencing As a Generic Diagnostic Strategy for Rare Disease

GENOME MEDICINE（2024）

Cited4Views0WOSBibtex

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)

Elke de Boer,Charlotte W. Ockeloen,Rosalie A. Kampen,Juliet E. Hampstead,Alexander J. M. Dingemans,Dmitrijs Rots,Lukas Lutje,Tazeen Ashraf,Rachel Baker,Mouna Barat-Houari,Brad Angle,Nicolas Chatron,Anne-Sophie Denomme-Pichon,Orrin Devinsky,Christele Dubourg,Frances Elmslie,Houda Zghal Elloumi,Laurence Faivre, Sarah Fitzgerald-Butt,David Genevieve,Jacqueline A. C. Goos,Benjamin M. Helm,Usha Kini,Amaia Lasa-Aranzasti,Gaetan Lesca,Sally A. Lynch,Irene M. J. Mathijssen,Ruth McGowan,Kristin G. Monaghan,Sylvie Odent,Rolph Pfundt,Audrey Putoux,Jeroen van Reeuwijk,Gijs W. E. Santen,Erina Sasaki,Arthur Sorlin,Peter J. van der Spek,Alexander P. A. Stegmann,Sigrid M. A. Swagemakers,Irene Valenzuela,Eleonore Viora-Dupont,Antonio Vitobello,Stephanie M. Ware,Mathys Weber,Christian Gilissen,Karen J. Low,Simon E. Fisher,Lisenka E. L. M. Vissers,Maggie M. K. Wong,Tjitske Kleefstra

GENETICS IN MEDICINEno. 11 (2023)

Cited1Views0Bibtex

A Complex Structural Variant Near SOX3 Causes X-linked Split-Hand/foot Malformation

Elke de Boer,Carlo Marcelis,Kornelia Neveling,Ellen van Beusekom,Alexander Hoischen,Willemijn M. Klein,Nicole de Leeuw,Tuomo Mantere,Uira S. Melo,Jeroen van Reeuwijk,Dominique Smeets,Malte Spielmann,Tjitske Kleefstra,Hans van Bokhoven,Lisenka E. L. M. Vissers

HUMAN GENETICS AND GENOMICS ADVANCES（2023）

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