A
Alexander Hoischen
Researcher at Radboud University Nijmegen
Publications - 228
Citations - 18140
Alexander Hoischen is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 62, co-authored 199 publications receiving 14917 citations. Previous affiliations of Alexander Hoischen include Haukeland University Hospital & University of Bergen.
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Journal ArticleDOI
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more
TL;DR: De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
Journal ArticleDOI
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Maartje van de Vorst,Bregje W.M. van Bon,Marjolein H. Willemsen,Michael Kwint,Irene M. Janssen,Alexander Hoischen,Annette Schenck,Richard Leach,Robert C. Klein,Rick Tearle,Tan Bo,Rolph Pfundt,Helger G. Yntema,Bert B.A. de Vries,Tjitske Kleefstra,Han G. Brunner,Lisenka E.L.M. Vissers,Joris A. Veltman +20 more
TL;DR: Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.
Journal ArticleDOI
A de novo paradigm for mental retardation.
Lisenka E.L.M. Vissers,Joep de Ligt,Christian Gilissen,Irene M. Janssen,Marloes Steehouwer,Petra de Vries,Bart van Lier,Peer Arts,Nienke Wieskamp,Marisol del Rosario,Bregje W.M. van Bon,Alexander Hoischen,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman +14 more
TL;DR: This work identified and validated unique non-synonymous de novo mutations in nine genes and identified six likely to be pathogenic based on gene function, evolutionary conservation and mutation impact that could explain the majority of all mental retardation cases in the population.
Journal ArticleDOI
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
Frank L. van de Veerdonk,Theo S. Plantinga,Alexander Hoischen,Sanne P. Smeekens,Leo A. B. Joosten,Christian Gilissen,Peer Arts,Diana C. Rosentul,Andrew J. Carmichael,Chantal A.A. Smits-van der Graaf,Bart Jan Kullberg,Jos W. M. van der Meer,Desa Lilic,Joris A. Veltman,Mihai G. Netea +14 more
TL;DR: Mutations in the CC domain of STAT1 underlie autosomal dominant CMC and lead to defective Th1 and Th17 responses, which may explain the increased susceptibility to fungal infection.
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.