{"id":"https://openalex.org/W4394402602","doi":"https://doi.org/10.6084/m9.figshare.5726584","title":"Additional file 1: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism","display_name":"Additional file 1: of Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism","publication_year":2017,"publication_date":"2017-01-01","ids":{"openalex":"https://openalex.org/W4394402602","doi":"https://doi.org/10.6084/m9.figshare.5726584"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/5726584","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_mutations_in_the_PI3K-AKT-mTOR_signalling_pathway_in_patients_with_macrocephaly_and_developmental_delay_and_or_autism/5726584","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},"volume":null,"type":"dataset","is_traditional":false,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_mutations_in_the_PI3K-AKT-mTOR_signalling_pathway_in_patients_with_macrocephaly_and_developmental_delay_and_or_autism/5726584","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5048435930","display_name":"Kit San Yeung","orcid":"https://orcid.org/0000-0002-1480-3619","observed_orcids":["https://orcid.org/0000-0002-1480-3619"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yeung, Kit","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058374552","display_name":"Winnie W. Y. Tso","orcid":"https://orcid.org/0000-0002-5859-015X","observed_orcids":["https://orcid.org/0000-0002-5859-015X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tso, Winnie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112858528","display_name":"Janice Ip","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ip, Janice","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034844248","display_name":"Christopher Chun Yu Mak","orcid":"https://orcid.org/0000-0001-6934-6518","observed_orcids":["https://orcid.org/0000-0001-6934-6518"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mak, Christopher","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001661582","display_name":"Gordon Ka Chun Leung","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Leung, Gordon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113137273","display_name":"Mandy Ho\u2010Yin Tsang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tsang, Mandy","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087155263","display_name":"Dingge Ying","orcid":"https://orcid.org/0009-0005-6257-2877","observed_orcids":["https://orcid.org/0009-0005-6257-2877"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dingge Ying","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014395574","display_name":"Steven Lim Cho Pei","orcid":"https://orcid.org/0000-0003-1335-5380","observed_orcids":["https://orcid.org/0000-0003-1335-5380"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pei, Steven","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Lee, So","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lee, So","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039335550","display_name":"Wanling Yang","orcid":"https://orcid.org/0000-0003-0063-6327","observed_orcids":["https://orcid.org/0000-0003-0063-6327"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wanling Yang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5027881770","display_name":"Brian Hon\u2010Yin Chung","orcid":"https://orcid.org/0000-0002-7044-5916","observed_orcids":["https://orcid.org/0000-0002-7044-5916"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chung, Brian","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":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.7753999829292297,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.7753999829292297,"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/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.1680999994277954,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.025200000032782555,"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/pi3k-akt-mtor-pathway","display_name":"PI3K/AKT/mTOR pathway","score":0.9760000109672546},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.9139999747276306},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9900000095367432},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9879999756813049},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.8230000138282776},{"id":"https://openalex.org/keywords/sequencing-depth","display_name":"sequencing depth","score":0.796999990940094}],"concepts":[{"id":"https://openalex.org/C2781083543","wikidata":"https://www.wikidata.org/wiki/Q635339","display_name":"Macrocephaly","level":2,"score":0.9418030977249146},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.7325720191001892},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.668338418006897},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5129351615905762},{"id":"https://openalex.org/C39743133","wikidata":"https://www.wikidata.org/wiki/Q3262595","display_name":"Signalling","level":2,"score":0.43443363904953003},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4264461398124695},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4173009395599365},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3290655016899109},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2924196720123291},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.24518489837646484},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.15080657601356506},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.13640278577804565},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/5726584","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_mutations_in_the_PI3K-AKT-mTOR_signalling_pathway_in_patients_with_macrocephaly_and_developmental_delay_and_or_autism/5726584","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.5726584","doi":"https://doi.org/10.6084/m9.figshare.5726584","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.5726584","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.5726584.v1","doi":"https://doi.org/10.6084/m9.figshare.5726584.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.5726584.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"pmh:oai:figshare.com:article/5726584","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_mutations_in_the_PI3K-AKT-mTOR_signalling_pathway_in_patients_with_macrocephaly_and_developmental_delay_and_or_autism/5726584","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2778440734","https://openalex.org/W2897309494","https://openalex.org/W2922395025","https://openalex.org/W2575015674","https://openalex.org/W4409606487","https://openalex.org/W2811093947","https://openalex.org/W2053486980","https://openalex.org/W2015232131","https://openalex.org/W2740566814","https://openalex.org/W1564359252"],"abstract_inverted_index":{"Summary":[0],"of":[1,14,37],"sequencing":[2,16],"data":[3,12],"for":[4,18],"all":[5,19],"patients":[6,20],"with":[7],"macrocephaly":[8],"and":[9,34],"DD/ASD.":[10],"The":[11],"consist":[13],"the":[15,26,31,35],"information":[17],"recruited":[21],"in":[22],"this":[23],"study,":[24],"including":[25],"kit":[27],"used":[28],"to":[29],"prepare":[30],"library,":[32],"sequencers,":[33],"depth":[36],"coverage.":[38],"(XLSX":[39],"18\u00c2":[40],"kb)":[41]},"counts_by_year":[],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2024-04-08T00:00:00"}