{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:18:51Z","timestamp":1772518731127,"version":"3.50.1"},"reference-count":56,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"unspecified","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","award":["10039383"],"award-info":[{"award-number":["10039383"]}],"id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010767","name":"Innovative Medicines Initiative","doi-asserted-by":"publisher","award":["777394"],"award-info":[{"award-number":["777394"]}],"id":[{"id":"10.13039\/501100010767","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018693","name":"HORIZON EUROPE","doi-asserted-by":"crossref","award":["101057385"],"award-info":[{"award-number":["101057385"]}],"id":[{"id":"10.13039\/100018693","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2024,5,10]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>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\u2019 genetic profiles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and analysis<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Ethics and dissemination<\/jats:title>\n                    <jats:p>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).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2023-080746","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T16:43:12Z","timestamp":1717519392000},"page":"e080746","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry"],"prefix":"10.1136","volume":"14","author":[{"given":"Madeleine","family":"Bloomfield","sequence":"first","affiliation":[{"name":"Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7680-8936","authenticated-orcid":false,"given":"Alexandra","family":"Lautarescu","sequence":"additional","affiliation":[{"name":"Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK"},{"name":"Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00edofra","family":"Heraty","sequence":"additional","affiliation":[{"name":"Department of Psychological Sciences, Birkbeck University of London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Douglas","sequence":"additional","affiliation":[{"name":"AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2346-8039","authenticated-orcid":false,"given":"Pierre","family":"Violland","sequence":"additional","affiliation":[{"name":"AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roderik","family":"Plas","sequence":"additional","affiliation":[{"name":"AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjuli","family":"Ghosh","sequence":"additional","affiliation":[{"name":"AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Van den Bosch","sequence":"additional","affiliation":[{"name":"AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliza","family":"Eaton","sequence":"additional","affiliation":[{"name":"Autism Research Centre, Cambridge University, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Absoud","sequence":"additional","affiliation":[{"name":"Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK"},{"name":"Department of Women and Children's Health, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Bl\u00e1zquez Hinojosa","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Bolshakova","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"B\u00f6lte","sequence":"additional","affiliation":[{"name":"Center of Neurodevelopmental Disorders (KIND), Department of Women\u2019s and Children\u2019s Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden"},{"name":"Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm, Sweden"},{"name":"Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bonanni","sequence":"additional","affiliation":[{"name":"Epilepsy Unit, Scientific Institute IRCCS E. 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