Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.
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| Title: | Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema. |
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| Authors: | Batlle-Masó L; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Children's Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gil-Serrano J; Allergy Department, National Reference Hereditary Angioedema Center (CSUR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Allergy Research Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Kamping E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bruch-Tàrrega A; Allergy Department, National Reference Hereditary Angioedema Center (CSUR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Allergy Research Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Aguiló-Cucurull A; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Perurena-Prieto J; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Steehouwer M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Radboud Center for Infectious Disease (RCI), Nijmegen, the Netherlands., Guilarte M; Allergy Department, National Reference Hereditary Angioedema Center (CSUR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Allergy Research Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Colobran R; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain. roger.colobran@vallhebron.cat. |
| Source: | Journal of clinical immunology [J Clin Immunol] 2026 Mar 28; Vol. 46 (1). Date of Electronic Publication: 2026 Mar 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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