{"id":"https://openalex.org/W7212004142","doi":"https://doi.org/10.1002/ajmg.a.31074","title":"Angelman syndrome 2005: updated consensus for diagnostic criteria","display_name":"Angelman syndrome 2005: updated consensus for diagnostic criteria","publication_year":2006,"publication_date":"2006-03-01","ids":{"openalex":"https://openalex.org/W7212004142","doi":"https://doi.org/10.1002/ajmg.a.31074"},"language":"en","primary_location":{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/183952","doi":"https://doi.org/10.1002/ajmg.a.31074","is_oa":false,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/183952","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J. A., & Wagstaff, J. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140, 413\u2013418. https://doi.org/10.1002/ajmg.a.31074","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101896596","display_name":"Charles A. Williams","orcid":"https://orcid.org/0000-0001-5401-1475","observed_orcids":["https://orcid.org/0000-0001-5401-1475"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Williams, Charles A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074963804","display_name":"Arthur L. Beaudet","orcid":"https://orcid.org/0000-0003-2083-3192","observed_orcids":["https://orcid.org/0000-0003-2083-3192"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beaudet, Arthur L","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056744774","display_name":"Jill Clayton\u2010Smith","orcid":"https://orcid.org/0000-0002-9602-2321","observed_orcids":["https://orcid.org/0000-0002-9602-2321"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Clayton-Smith, Jill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014952448","display_name":"Joan H.M. Knoll","orcid":"https://orcid.org/0000-0001-6691-1710","observed_orcids":["https://orcid.org/0000-0001-6691-1710"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Knoll, Joan H","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113999646","display_name":"M\u00e5rtin Kyllerman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kyllerman, Martin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111911609","display_name":"Laura Laan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Laan, Laura A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109897696","display_name":"R. Ellen Magenis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Magenis, R Ellen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067799069","display_name":"A Moncla","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Moncla, Ann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5151100815","display_name":"Albert Schinzel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Schinzel, Albert","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086491717","display_name":"Jane Summers","orcid":"https://orcid.org/0000-0001-8523-2449","observed_orcids":["https://orcid.org/0000-0001-8523-2449"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Summers, Jane A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5103541163","display_name":"Joseph E. Wagstaff","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wagstaff, Joseph","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1891,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.61174906,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/angelman-syndrome","display_name":"Angelman syndrome","score":1.0},{"id":"https://openalex.org/keywords/diagnostic-criteria","display_name":"diagnostic criteria","score":0.9959999918937683},{"id":"https://openalex.org/keywords/consensus-statement","display_name":"consensus statement","score":0.7870000004768372},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8889999985694885},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.4490000009536743},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.5199999809265137},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.30799999833106995}],"concepts":[{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.7067000269889832},{"id":"https://openalex.org/C3017605391","wikidata":"https://www.wikidata.org/wiki/Q1021509","display_name":"Consensus conference","level":2,"score":0.6675000190734863},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5293999910354614},{"id":"https://openalex.org/C2777026412","wikidata":"https://www.wikidata.org/wiki/Q2684591","display_name":"Statement (logic)","level":2,"score":0.5174000263214111},{"id":"https://openalex.org/C2779039943","wikidata":"https://www.wikidata.org/wiki/Q316748","display_name":"Scientific consensus","level":4,"score":0.47510001063346863},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.45100000500679016},{"id":"https://openalex.org/C124056412","wikidata":"https://www.wikidata.org/wiki/Q3320364","display_name":"Scientific evidence","level":2,"score":0.41119998693466187},{"id":"https://openalex.org/C2781083858","wikidata":"https://www.wikidata.org/wiki/Q17327049","display_name":"Scientific literature","level":2,"score":0.39430001378059387},{"id":"https://openalex.org/C2780719617","wikidata":"https://www.wikidata.org/wiki/Q1030752","display_name":"Salient","level":2,"score":0.3547999858856201},{"id":"https://openalex.org/C189708586","wikidata":"https://www.wikidata.org/wiki/Q1504425","display_name":"Systematic review","level":3,"score":0.28439998626708984},{"id":"https://openalex.org/C539667460","wikidata":"https://www.wikidata.org/wiki/Q2414942","display_name":"Management science","level":1,"score":0.27250000834465027},{"id":"https://openalex.org/C2779231881","wikidata":"https://www.wikidata.org/wiki/Q5977147","display_name":"Medical literature","level":2,"score":0.26739999651908875}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/183952","doi":"https://doi.org/10.1002/ajmg.a.31074","is_oa":false,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/183952","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J. A., & Wagstaff, J. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140, 413\u2013418. https://doi.org/10.1002/ajmg.a.31074","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7100616683","https://openalex.org/W2105522795","https://openalex.org/W2117579994","https://openalex.org/W7006699067","https://openalex.org/W4211087283","https://openalex.org/W2022744233","https://openalex.org/W2505498778","https://openalex.org/W2120234259","https://openalex.org/W2083478328","https://openalex.org/W4402828999"],"abstract_inverted_index":{"In":[0],"1995,":[1],"a":[2,26,69,81],"consensus":[3,52,58,83,97],"statement":[4],"was":[5,66],"published":[6],"for":[7,63],"the":[8,12,22,32,37,47,50,56,60,112],"purpose":[9],"of":[10,16,49,71,104,114,122],"summarizing":[11],"salient":[13],"clinical":[14,102,120],"features":[15,121],"Angelman":[17],"syndrome":[18],"(AS)":[19],"to":[20,45,67,79,118],"assist":[21,110],"clinician":[23],"in":[24,36,55,77,111],"making":[25],"timely":[27],"and":[28,73,109],"accurate":[29],"diagnosis.":[30],"Considering":[31],"scientific":[33,87],"advances":[34],"made":[35],"last":[38],"10":[39],"years,":[40],"it":[41],"is":[42,92],"necessary":[43],"now":[44],"review":[46,65],"validity":[48],"original":[51,57],"criteria.":[53],"As":[54],"project,":[59],"methodology":[61],"used":[62],"this":[64,95],"convene":[68],"group":[70],"scientists":[72],"clinicians,":[74],"with":[75,106],"experience":[76],"AS,":[78,108],"develop":[80],"concise":[82],"statement,":[84],"supported":[85],"by":[86],"publications":[88],"where":[89],"appropriate.":[90],"It":[91],"hoped":[93],"that":[94],"revised":[96],"document":[98],"will":[99],"facilitate":[100],"further":[101],"study":[103],"individuals":[105],"proven":[107],"evaluation":[113],"those":[115],"who":[116],"appear":[117],"have":[119,125],"AS":[123],"but":[124],"normal":[126],"laboratory":[127],"diagnostic":[128],"testing.":[129]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-25T09:29:13.331239","created_date":"2026-09-10T00:00:00"}