Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
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| Title: | Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis. |
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| Authors: | Vorsteveld EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Diepstra H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hoenselaar E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Engelen JS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Weiss MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde K; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Henriet SSV; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Hoof E; Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands., Idressi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Issekutz TB; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology and Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Te Loo M; Department of Pediatric Hematology, Amalia children's hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., Potjewijd J; Department of Internal Medicine, Division of Experimental and Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Sarhan NT; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Slot MC; Department of Allergology and Clinical Immunology, Maastricht UMC+, Maastricht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Thijs H; Department of Pediatrics, Gelre Ziekenhuizen Zutphen, The Netherlands., Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Vanhoutte EK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van de Veerdonk F; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., van Well G; Department of Paediatrics, Maastricht University Medical Center, MosaKids Children's Hospital, Maastricht, The Netherlands., Netea MG; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Immunology and Metabolism, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: alexander.hoischen@radboudumc.nl. |
| Corporate Authors: | all members of the Radboud University Medical Center multidisciplinary immune-disease board |
| Source: | Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 100883537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-7035 (Electronic) Linking ISSN: 15216616 NLM ISO Abbreviation: Clin Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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