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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Anne Hebert,Annet Simons,Janneke H M Schuurs-Hoeijmakers,Hans J P M Koenen,Evelien Zonneveld-Huijssoon,Stefanie S V Henriet,Ellen J H Schatorjé,Esther P A H Hoppenreijs,Erika K S M Leenders,Etienne J M Janssen,Gijs W E Santen,Sonja A de Munnik,Simon V van Reijmersdal,Esther van Rijssen,Simone Kersten,Mihai G Netea,Ruben L Smeets,Frank L van de Veerdonk,Alexander Hoischen,Caspar I van der Made

eLife（2022）

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摘要
This research was supported by grants from the European Union, ZonMW and the Radboud Institute for Molecular Life Sciences.
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关键词
de novo variants,human,inborn errors of immunity,medicine,primary immunodeficiencies,trio-based whole exome sequencing
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