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| Verfasst von: | Bloomfield, Madeleine [VerfasserIn]  |
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| | Lautarescu, Alexandra [VerfasserIn] |
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| | Heraty, Síofra [VerfasserIn] |
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| | Douglas, Sarah [VerfasserIn] |
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| | Violland, Pierre [VerfasserIn] |
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| | Plas, Roderik [VerfasserIn] |
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| | Ghosh, Anjuli [VerfasserIn] |
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| | Bosch, Katrien Van den [VerfasserIn] |
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| | Eaton, Eliza [VerfasserIn] |
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| | Absoud, Michael [VerfasserIn] |
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| | Battini, Roberta [VerfasserIn] |
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| | Hinojosa, Ana Blázquez [VerfasserIn] |
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| | Bolshakova, Nadia [VerfasserIn] |
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| | Bölte, Sven [VerfasserIn] |
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| | Bonanni, Paolo [VerfasserIn] |
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| | Borg, Jacqueline [VerfasserIn] |
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| | Calderoni, Sara [VerfasserIn] |
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| | Escalona, Rosa Calvo [VerfasserIn] |
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| | Castelo-Branco, Miguel [VerfasserIn] |
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| | Castro-Fornieles, Josefina [VerfasserIn] |
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| | Caro, Pilar [VerfasserIn] |
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| | Cliquet, Freddy [VerfasserIn] |
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| | Danieli, Alberto [VerfasserIn] |
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| | Delorme, Richard [VerfasserIn] |
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| | Elia, Maurizio [VerfasserIn] |
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| | Hempel, Maja [VerfasserIn] |
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| | Leblond, Claire S. [VerfasserIn] |
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| | Madeira, Nuno [VerfasserIn] |
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| | McAlonan, Grainne [VerfasserIn] |
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| | Milone, Roberta [VerfasserIn] |
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| | Molloy, Ciara J. [VerfasserIn] |
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| | Mouga, Susana [VerfasserIn] |
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| | Montiel, Virginia [VerfasserIn] |
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| | Rodrigues, Ana Pina [VerfasserIn] |
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| | Schaaf, Christian P. [VerfasserIn] |
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| | Serrano, Mercedes [VerfasserIn] |
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| | Tammimies, Kristiina [VerfasserIn] |
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| | Tye, Charlotte [VerfasserIn] |
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| | Vigevano, Federico [VerfasserIn] |
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| | Oliveira, Guiomar [VerfasserIn] |
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| | Mazzone, Beatrice [VerfasserIn] |
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| | O’Neill, Cara [VerfasserIn] |
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| | Pender, Julie [VerfasserIn] |
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| | Romero, Verena [VerfasserIn] |
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| | Tillmann, Julian [VerfasserIn] |
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| | Oakley, Bethany [VerfasserIn] |
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| | Murphy, Declan G. M. [VerfasserIn] |
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| | Gallagher, Louise [VerfasserIn] |
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| | Bourgeron, Thomas [VerfasserIn] |
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| | Chatham, Christopher [VerfasserIn] |
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| | Charman, Tony [VerfasserIn] |
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| Titel: | European Autism GEnomics Registry (EAGER) |
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| Titelzusatz: | protocol for a multicentre cohort study and registry |
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| Verf.angabe: | Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Michael Absoud, Roberta Battini, Ana Blázquez Hinojosa, Nadia Bolshakova, Sven Bölte, Paolo Bonanni, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Miguel Castelo-Branco, Josefina Castro-Fornieles, Pilar Caro, Freddy Cliquet, Alberto Danieli, Richard Delorme, Maurizio Elia, Maja Hempel, Claire S. Leblond, Nuno Madeira, Grainne McAlonan, Roberta Milone, Ciara J. Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Christian P. Schaaf, Mercedes Serrano, Kristiina Tammimies, Charlotte Tye, Federico Vigevano, Guiomar Oliveira, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Julian Tillmann, Bethany Oakley, Declan G.M. Murphy, Louise Gallagher, Thomas Bourgeron, Christopher Chatham, Tony Charman |
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| E-Jahr: | 2024 |
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| Jahr: | 4 June 2024 |
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| Umfang: | 10 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Gesehen am 31.01.2025 |
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| Titel Quelle: | Enthalten in: BMJ open |
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| Ort Quelle: | London : BMJ Publishing Group, 2011 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 14(2024), 6, Artikel-ID e080746, Seite 1-10 |
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| ISSN Quelle: | 2044-6055 |
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| Abstract: | Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants’ genetic profiles. - Methods and analysis EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. - Ethics and dissemination To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters). |
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| DOI: | doi:10.1136/bmjopen-2023-080746 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1136/bmjopen-2023-080746 |
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| | kostenfrei: Volltext: https://bmjopen.bmj.com/content/14/6/e080746 |
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| | DOI: https://doi.org/10.1136/bmjopen-2023-080746 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | genetics |
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| | mental health |
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| | registries |
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| K10plus-PPN: | 1916085938 |
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| Verknüpfungen: | → Zeitschrift |
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European Autism GEnomics Registry (EAGER) / Bloomfield, Madeleine [VerfasserIn]; 4 June 2024 (Online-Ressource)
