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Caspar I van der Made
Researcher at Radboud University Nijmegen
Publications - 15
Citations - 753
Caspar I van der Made is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 4, co-authored 5 publications receiving 355 citations.
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Journal ArticleDOI
Presence of Genetic Variants Among Young Men With Severe COVID-19.
Caspar I van der Made,Annet Simons,Janneke H M Schuurs-Hoeijmakers,Guus R. M. van den Heuvel,Tuomo Mantere,Simone Kersten,Rosanne C. van Deuren,Marloes Steehouwer,Simon V. van Reijmersdal,Martin Jaeger,Tom Hofste,Galuh D.N. Astuti,Jordi Corominas Galbany,Vyne van der Schoot,Hans van der Hoeven,Eva Klijn,Catrien van den Meer,Jeroen Fiddelaers,Quirijn de Mast,Chantal P. Bleeker-Rovers,Leo A. B. Joosten,Helger G. Yntema,Christian Gilissen,Marcel R. Nelen,Jos W. M. van der Meer,Han G. Brunner,Mihai G. Netea,Frank L. van de Veerdonk,Alexander Hoischen +28 more
TL;DR: In this case series of 4 young male patients with severe COVID-19, rare putative loss-of-function variants of X-chromosomal TLR7 were identified that were associated with impaired type I and II IFN responses and provide insights into the pathogenesis of CO VID-19.
Journal ArticleDOI
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS
Caspar I van der Made,Judith Potjewijd,Annemiek Hoogstins,Huub P.J. Willems,Arjan J. Kwakernaak,Ruud G. L. de Sévaux,Paul L A van Daele,Annet Simons,Marloes W Heijstek,David B. Beck,Mihai G. Netea,Pieter van Paassen,A. Elizabeth Hak,Lars T. van der Veken,Marielle E. van Gijn,Alexander Hoischen,Frank L. van de Veerdonk,Helen L. Leavis,Abraham Rutgers +18 more
TL;DR: In this article, a reanalysis of whole-exome sequencing data from a cohort of undiagnosed patients with autoinflammation from academic hospitals in The Netherlands was performed.
Journal ArticleDOI
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19.
Xavier Solanich,Gardenia Vargas-Parra,Caspar I van der Made,Annet Simons,Janneke H M Schuurs-Hoeijmakers,Arnau Antolí,Jesús del Valle,Gemma Rocamora-Blanch,Fernando Setien,Manel Esteller,Simon V. van Reijmersdal,Antoni Riera-Mestre,Antoni Riera-Mestre,Joan Sabater-Riera,Gabriel Capellá,Frank L. van de Veerdonk,Ben van der Hoven,Xavier Corbella,Xavier Corbella,Alexander Hoischen,Conxi Lázaro +20 more
TL;DR: In this paper, the TLR7 missense variants were identified in two out of 14 patients (14.3%) and were not previously reported in population control databases and were predicted to be damaging by in silico predictors.
Peer ReviewDOI
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19
TL;DR: The current genetic findings point towards a convergence of common and rare genetic variants that impact the interferon signalling pathways in patients with severe or critical COVID-19 and focuses on rare variants in IFN-I signalling genes and their potential clinical implications.
Journal ArticleDOI
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
Nikhil Shri Sahajpal,Chi-Yu Jill Lai,Alex Hastie,Ashis K. Mondal,Siavash R. Dehkordi,Caspar I van der Made,Olivier Fedrigo,Farooq O. Al-Ajli,Sawan Jalnapurkar,Marta Byrska-Bishop,Rashmi Kanagal-Shamanna,Brynn Levy,Maximilian Schieck,Thomas Illig,Silviu Alin Bacanu,Janet Chou,Adrienne G. Randolph,Amyn M. Rojiani,Michael C. Zody,Catherine A. Brownstein,Alan H. Beggs,Vineet Bafna,Erich D. Jarvis,Alexander Hoischen,Alka Chaubey,Ravindra Kolhe +25 more
TL;DR: In this article , the authors performed optical genome mapping on 52 severely ill COVID-19 patients to identify rare/unique structural variants (SVs) as decisive predisposition factors associated with COVID19.