{"id":"https://openalex.org/W4394434656","doi":"https://doi.org/10.6084/m9.figshare.8051186","title":"Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome","display_name":"Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W4394434656","doi":"https://doi.org/10.6084/m9.figshare.8051186"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/8051186","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_2_of_Gene_domain-specific_DNA_methylation_episignatures_highlight_distinct_molecular_entities_of_ADNP_syndrome/8051186","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","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://figshare.com/articles/dataset/Additional_file_2_of_Gene_domain-specific_DNA_methylation_episignatures_highlight_distinct_molecular_entities_of_ADNP_syndrome/8051186","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045710984","display_name":"Eric G. Bend","orcid":"https://orcid.org/0000-0002-1283-9036","observed_orcids":["https://orcid.org/0000-0002-1283-9036"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bend, Eric","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046552529","display_name":"Erfan Aref\u2010Eshghi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aref-Eshghi, Erfan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016443533","display_name":"David B. Everman","orcid":"https://orcid.org/0000-0001-8331-992X","observed_orcids":["https://orcid.org/0000-0001-8331-992X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Everman, David","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101543110","display_name":"R. Curtis Rogers","orcid":"https://orcid.org/0000-0002-0938-4608","observed_orcids":["https://orcid.org/0000-0002-0938-4608"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rogers, R.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032447674","display_name":"Sara S. Cathey","orcid":"https://orcid.org/0000-0002-5580-7683","observed_orcids":["https://orcid.org/0000-0002-5580-7683"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cathey, Sara","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015000057","display_name":"Eloise J. Prijoles","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Prijoles, Eloise","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018822381","display_name":"Michael J. Lyons","orcid":"https://orcid.org/0000-0002-8644-5507","observed_orcids":["https://orcid.org/0000-0002-8644-5507"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lyons, Michael","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Davis, Heather","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Davis, Heather","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107978242","display_name":"Katie Clarkson","orcid":"https://orcid.org/0000-0003-0941-5416","observed_orcids":["https://orcid.org/0000-0003-0941-5416"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Clarkson, Katie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063661244","display_name":"Karen Webster Gripp","orcid":"https://orcid.org/0000-0001-8200-1733","observed_orcids":["https://orcid.org/0000-0001-8200-1733"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gripp, Karen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100407411","display_name":"Dong Li","orcid":"https://orcid.org/0000-0002-2265-6727","observed_orcids":["https://orcid.org/0000-0002-2265-6727"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Li, Dong","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091497415","display_name":"Elizabeth J. K. Bhoj","orcid":"https://orcid.org/0000-0001-5748-3507","observed_orcids":["https://orcid.org/0000-0001-5748-3507"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bhoj, Elizabeth","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008262289","display_name":"Elaine H. Zackai","orcid":"https://orcid.org/0000-0002-8002-893X","observed_orcids":["https://orcid.org/0000-0002-8002-893X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zackai, Elaine","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080429540","display_name":"Paul R. Mark","orcid":"https://orcid.org/0000-0002-1020-888X","observed_orcids":["https://orcid.org/0000-0002-1020-888X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark, Paul","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088244425","display_name":"Hakon H. Hakonarson","orcid":"https://orcid.org/0000-0003-2814-7461","observed_orcids":["https://orcid.org/0000-0003-2814-7461"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hakonarson, Hakon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027787112","display_name":"Laurie Demmer","orcid":"https://orcid.org/0000-0002-6488-8307","observed_orcids":["https://orcid.org/0000-0002-6488-8307"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Demmer, Laurie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077992370","display_name":"Michael A. Levy","orcid":"https://orcid.org/0000-0002-4188-2527","observed_orcids":["https://orcid.org/0000-0002-4188-2527"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Levy, Michael","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047369065","display_name":"Jennifer Kerkhof","orcid":"https://orcid.org/0000-0003-1245-6606","observed_orcids":["https://orcid.org/0000-0003-1245-6606"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kerkhof, Jennifer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048794148","display_name":"Alan Stuart","orcid":"https://orcid.org/0000-0001-6370-8581","observed_orcids":["https://orcid.org/0000-0001-6370-8581"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stuart, Alan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111593302","display_name":"David I. Rodenhiser","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rodenhiser, David","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033682081","display_name":"Michael J. Friez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Friez, Michael","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stevenson, Roger","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Schwartz, Charles","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5074581885","display_name":"Bekim Sadikovi\u0107","orcid":"https://orcid.org/0000-0001-6363-0016","observed_orcids":["https://orcid.org/0000-0001-6363-0016"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sadikovic, Bekim","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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.8119999766349792,"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"}},"topics":[{"id":"https://openalex.org/T10269","display_name":"Epigenetics and DNA Methylation","score":0.8119999766349792,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.17319999635219574,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.0017000000225380063,"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/dna-methylation","display_name":"DNA methylation","score":0.9049999713897705},{"id":"https://openalex.org/keywords/cpg-sites","display_name":"CpG sites","score":0.6269999742507935},{"id":"https://openalex.org/keywords/differentially-methylated-regions","display_name":"differentially methylated regions","score":0.9900000095367432},{"id":"https://openalex.org/keywords/gene-ontology","display_name":"Gene Ontology","score":0.5590000152587891},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.8140000104904175},{"id":"https://openalex.org/keywords/blood-cells","display_name":"blood cells","score":0.5419999957084656},{"id":"https://openalex.org/keywords/support-vector-machine-classification","display_name":"support vector machine classification","score":0.44600000977516174},{"id":"https://openalex.org/keywords/molecular-entities","display_name":"molecular entities","score":0.38199999928474426}],"concepts":[{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.6628731489181519},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5618624091148376},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5463138818740845},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5445119142532349},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48537957668304443},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4770633280277252},{"id":"https://openalex.org/C36503486","wikidata":"https://www.wikidata.org/wiki/Q11235244","display_name":"Domain (mathematical analysis)","level":2,"score":0.4185643792152405},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.12907850742340088},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0647779107093811},{"id":"https://openalex.org/C134306372","wikidata":"https://www.wikidata.org/wiki/Q7754","display_name":"Mathematical analysis","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/8051186","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_2_of_Gene_domain-specific_DNA_methylation_episignatures_highlight_distinct_molecular_entities_of_ADNP_syndrome/8051186","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.8051186","doi":"https://doi.org/10.6084/m9.figshare.8051186","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.8051186","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.8051186.v1","doi":"https://doi.org/10.6084/m9.figshare.8051186.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.8051186.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/8051186","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_2_of_Gene_domain-specific_DNA_methylation_episignatures_highlight_distinct_molecular_entities_of_ADNP_syndrome/8051186","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"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/W6921048876","https://openalex.org/W2947363345","https://openalex.org/W3014495644","https://openalex.org/W4413012669","https://openalex.org/W6939655200","https://openalex.org/W6921119030","https://openalex.org/W7140159678","https://openalex.org/W4415762473","https://openalex.org/W4283360361","https://openalex.org/W2074883482"],"abstract_inverted_index":{"Table":[0,10,20,27,34,46,54,64,71,80,90,100,107],"S1.":[1],"CpG":[2,12],"sites":[3,13],"differentially":[4,14],"methylated":[5,15,23,30],"between":[6,16],"ADNP-1":[7,41,61,69,76],"and":[8,18,62,77],"controls.":[9,19],"S2.":[11],"ADNP-2":[17,78],"S3.":[21],"Differentially":[22,29],"regions":[24,31],"in":[25,32,40,52,60,68,75,88,98],"ADNP-1.":[26,89],"S4.":[28],"ADNP-2.":[33,53,63,99],"S5.":[35],"Gene":[36,48,56],"ontology":[37,49,57],"(GO)":[38,50,58],"terms":[39,51,59],"(green:":[42],"FDR\u00e2":[43],"<\u00e2":[44],"0.01).":[45],"S6.":[47],"S7.":[55],"S8.":[65],"Pathways":[66,73],"enriched":[67,74],"episignature.":[70],"S9.":[72],"episignatures.":[79],"S10.":[81],"EpiMods":[82,92],"of":[83,93,103],"DNA":[84,94],"methylation":[85,95],"protein-protein":[86,96],"interactions":[87,97],"S11.":[91],"S12.":[101],"Details":[102],"the":[104],"SVM":[105],"classifier.":[106],"S13":[108],"Scores":[109],"generated":[110],"for":[111],"various":[112],"blood":[113],"cells.":[114],"(XLSX":[115],"910":[116],"kb)":[117]},"counts_by_year":[],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2024-04-08T00:00:00"}