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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.
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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  Data: Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.
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  Data: <searchLink fieldCode="AU" term="%22Batlle-Masó+L%22">Batlle-Masó L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Neveling+K%22">Neveling K</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gil-Serrano+J%22">Gil-Serrano J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kamping+E%22">Kamping E</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22den+Ouden+A%22">den Ouden A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Timmermans+R%22">Timmermans R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bruch-Tàrrega+A%22">Bruch-Tàrrega A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Aguiló-Cucurull+A%22">Aguiló-Cucurull A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Perurena-Prieto+J%22">Perurena-Prieto J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fernández-Álvarez+P%22">Fernández-Álvarez P</searchLink>; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Steehouwer+M%22">Steehouwer M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Guilarte+M%22">Guilarte M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Colobran+R%22">Colobran R</searchLink>; 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.
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