{"id":"https://openalex.org/W2033790967","doi":"https://doi.org/10.1086/515456","title":"Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis","display_name":"Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis","publication_year":1997,"publication_date":"1997-06-01","ids":{"openalex":"https://openalex.org/W2033790967","doi":"https://doi.org/10.1086/515456","mag":"2033790967","pmid":"https://pubmed.ncbi.nlm.nih.gov/9199556","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1716109"},"language":"en","primary_location":{"id":"doi:10.1086/515456","doi":"https://doi.org/10.1086/515456","is_oa":true,"landing_page_url":"https://doi.org/10.1086/515456","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1086/515456","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013132392","display_name":"Sabine Schwemmle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sabine Schwemmle","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Germany","Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]},{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049553755","display_name":"Esther de Graaff","orcid":"https://orcid.org/0000-0003-0383-373X","observed_orcids":["https://orcid.org/0000-0003-0383-373X"]},"institutions":[{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Esther De Graaff","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus University Rotterdam"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus University Rotterdam","institution_ids":["https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054618662","display_name":"Heidrun L. Deissler","orcid":"https://orcid.org/0000-0003-0086-7811","observed_orcids":["https://orcid.org/0000-0003-0086-7811"]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Heidrun Deissler","raw_affiliation_strings":["Institut f\u00fcr Genetik, Universit\u00e4t zu K\u00f6ln, K\u00f6ln, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Genetik, Universit\u00e4t zu K\u00f6ln, K\u00f6ln, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112067138","display_name":"Dieter Gl\u00e4ser","orcid":"https://orcid.org/0000-0002-9033-3743","observed_orcids":["https://orcid.org/0000-0002-9033-3743"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dieter Gl\u00e4ser","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069142547","display_name":"Doris W\u00f6hrle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Doris Wohrle","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045980268","display_name":"Ingo Kennerknecht","orcid":"https://orcid.org/0000-0003-3735-717X","observed_orcids":["https://orcid.org/0000-0003-3735-717X"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ingo Kennerknecht","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075162437","display_name":"Walter Just","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Walter Just","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113623568","display_name":"Ben A. Oostra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ben A. Oostra","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus University Rotterdam"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus University Rotterdam","institution_ids":["https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020094417","display_name":"Walter Doerfler","orcid":"https://orcid.org/0000-0002-9971-0138","observed_orcids":["https://orcid.org/0000-0002-9971-0138"]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Walter Dorfler","raw_affiliation_strings":["Institut f\u00fcr Genetik, Universit\u00e4t zu K\u00f6ln, K\u00f6ln, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Genetik, Universit\u00e4t zu K\u00f6ln, K\u00f6ln, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046649622","display_name":"Walther Vogel","orcid":"https://orcid.org/0000-0002-7331-9077","observed_orcids":["https://orcid.org/0000-0002-7331-9077"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Walther Vogel","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050655185","display_name":"Peter J. Steinbach","orcid":"https://orcid.org/0000-0002-6710-3472","observed_orcids":["https://orcid.org/0000-0002-6710-3472"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Steinbach","raw_affiliation_strings":["Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Medizinische Genetik, Universit\u00e4t Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":3.7535,"has_fulltext":false,"cited_by_count":58,"citation_normalized_percentile":{"value":0.93629151,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"60","issue":"6","first_page":"1354","last_page":"1362"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9994999766349792,"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":0.9994999766349792,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.00019999999494757503,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.9340000152587891},{"id":"https://openalex.org/keywords/promoter","display_name":"promoter","score":0.4729999899864197},{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9070000052452087},{"id":"https://openalex.org/keywords/transcriptional-gene-silencing","display_name":"transcriptional silencing","score":0.8519999980926514},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.8069999814033508},{"id":"https://openalex.org/keywords/protein-dna-interactions","display_name":"protein-DNA interactions","score":0.7940000295639038},{"id":"https://openalex.org/keywords/transcription-factor-binding-sites","display_name":"transcription factor binding sites","score":0.8809999823570251},{"id":"https://openalex.org/keywords/transcriptional-regulation","display_name":"transcriptional regulation","score":0.5149999856948853},{"id":"https://openalex.org/keywords/in-vivo-footprinting","display_name":"in vivo footprinting","score":0.6269999742507935}],"concepts":[{"id":"https://openalex.org/C22427896","wikidata":"https://www.wikidata.org/wiki/Q4493748","display_name":"DNA footprinting","level":5,"score":0.5970275402069092},{"id":"https://openalex.org/C101762097","wikidata":"https://www.wikidata.org/wiki/Q224093","display_name":"Promoter","level":4,"score":0.5868347883224487},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5819628238677979},{"id":"https://openalex.org/C119056186","wikidata":"https://www.wikidata.org/wiki/Q1431332","display_name":"Gene silencing","level":3,"score":0.5764078497886658},{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.5741751194000244},{"id":"https://openalex.org/C2778021871","wikidata":"https://www.wikidata.org/wiki/Q648006","display_name":"Footprinting","level":4,"score":0.5531599521636963},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.5227023363113403},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5141151547431946},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5118586421012878},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4711785614490509},{"id":"https://openalex.org/C179926584","wikidata":"https://www.wikidata.org/wiki/Q207714","display_name":"Transcription (linguistics)","level":2,"score":0.46689996123313904},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.4551721215248108},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.4269421398639679},{"id":"https://openalex.org/C94966510","wikidata":"https://www.wikidata.org/wiki/Q2252764","display_name":"DNA-binding protein","level":4,"score":0.3402077257633209},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.17619642615318298},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.05291178822517395},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004622","descriptor_name":"Embryo, Mammalian","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013463","descriptor_name":"Sulfuric Acid Esters","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018983","descriptor_name":"DNA Footprinting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1086/515456","doi":"https://doi.org/10.1086/515456","is_oa":true,"landing_page_url":"https://doi.org/10.1086/515456","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:9199556","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9199556","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/d8bd0042-34db-42ba-9cc6-8544baa3b2bc","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/d8bd0042-34db-42ba-9cc6-8544baa3b2bc","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Schwemmle, S, Graaff, E, Deissler, H, Glaser, D, Wohrle, D, Kennerknecht, I, Just, W, Oostra, B, Dorfler, W, Vogel, W & Steinbach, P 1997, 'Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis', American Journal of Human Genetics, vol. 60, pp. 1354-1362.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/d8bd0042-34db-42ba-9cc6-8544baa3b2bc","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/d8bd0042-34db-42ba-9cc6-8544baa3b2bc","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 60, 1354 - 1362. Cell Press","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1086/515456","doi":"https://doi.org/10.1086/515456","is_oa":true,"landing_page_url":"https://doi.org/10.1086/515456","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.428600013256073}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W71214772","https://openalex.org/W147753034","https://openalex.org/W323150093","https://openalex.org/W1409780570","https://openalex.org/W1514080928","https://openalex.org/W1516441410","https://openalex.org/W1522672554","https://openalex.org/W1533394581","https://openalex.org/W1820195470","https://openalex.org/W1970500252","https://openalex.org/W1974525592","https://openalex.org/W1977735857","https://openalex.org/W1978236923","https://openalex.org/W1992450436","https://openalex.org/W1994600118","https://openalex.org/W1997834806","https://openalex.org/W2002780348","https://openalex.org/W2004205790","https://openalex.org/W2004855923","https://openalex.org/W2014669590","https://openalex.org/W2015232786","https://openalex.org/W2037225821","https://openalex.org/W2041317251","https://openalex.org/W2051013729","https://openalex.org/W2053987447","https://openalex.org/W2059219763","https://openalex.org/W2086075525","https://openalex.org/W2096252283","https://openalex.org/W2117743569","https://openalex.org/W2133747691","https://openalex.org/W2137391937","https://openalex.org/W2138074651","https://openalex.org/W2144515939","https://openalex.org/W2149919973","https://openalex.org/W2160382198","https://openalex.org/W2161815236","https://openalex.org/W2163859996","https://openalex.org/W2167119720","https://openalex.org/W2169492321","https://openalex.org/W2764507161","https://openalex.org/W4236512674","https://openalex.org/W4248064347"],"related_works":["https://openalex.org/W2133681744","https://openalex.org/W2141690611","https://openalex.org/W2069894990","https://openalex.org/W1977735857","https://openalex.org/W7124161639","https://openalex.org/W2166691964","https://openalex.org/W1975728749","https://openalex.org/W7098218198","https://openalex.org/W2089579982","https://openalex.org/W2136682839"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
