{"id":"https://openalex.org/W2485864599","doi":null,"title":"Deciphering Developmental Disorders","display_name":"Deciphering Developmental Disorders","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W2485864599","mag":"2485864599"},"language":"en","primary_location":{"id":"mag:2485864599","doi":null,"is_oa":false,"landing_page_url":"https://www.bdi.ox.ac.uk/publications/368038","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics","raw_type":null},"volume":null,"type":"article","is_traditional":true,"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/A5056580059","display_name":"Caroline Fiona Wright","orcid":"https://orcid.org/0000-0003-2958-5076","observed_orcids":["https://orcid.org/0000-0003-2958-5076"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Caroline F. Wright","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2958-5076","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049698135","display_name":"Helen V. Firth","orcid":"https://orcid.org/0000-0002-6410-0882","observed_orcids":["https://orcid.org/0000-0002-6410-0882"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Helen V. Firth","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6410-0882","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079956053","display_name":"Diana L. Fitzpatrick","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Diana L. Fitzpatrick","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040119863","display_name":"Jeffrey C. Barrett","orcid":"https://orcid.org/0000-0002-1152-370X","observed_orcids":["https://orcid.org/0000-0002-1152-370X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J C Barrett","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002522363","display_name":"Michael W. Parker","orcid":"https://orcid.org/0000-0002-3101-1138","observed_orcids":["https://orcid.org/0000-0002-3101-1138"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael W. Parker","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-3101-1138","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062485022","display_name":"N P Carter","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N P Carter","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5068997042","display_name":"Matthew E. Hurles","orcid":"https://orcid.org/0000-0002-2333-7015","observed_orcids":["https://orcid.org/0000-0002-2333-7015"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. E. Hurles","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":1.7609,"has_fulltext":false,"cited_by_count":52,"citation_normalized_percentile":{"value":0.85540179,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"49","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6410999894142151,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.6410999894142151,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.31049999594688416,"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":0.014600000344216824,"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/developmental-disorders","display_name":"developmental disorders","score":0.9179999828338623},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.41999998688697815},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.5090000033378601}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41004207730293274},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.40005403757095337},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3505154252052307},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33854764699935913},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32708263397216797}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2485864599","doi":null,"is_oa":false,"landing_page_url":"https://www.bdi.ox.ac.uk/publications/368038","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":1,"referenced_works":["https://openalex.org/W1976153453"],"related_works":["https://openalex.org/W1582953276","https://openalex.org/W2086035379","https://openalex.org/W6979043605","https://openalex.org/W2096314096","https://openalex.org/W2430854634","https://openalex.org/W2062882381","https://openalex.org/W4256705422","https://openalex.org/W7160238182","https://openalex.org/W2413620509","https://openalex.org/W4220986911"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":11},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-08-23T00:00:00"}