{"id":"https://openalex.org/W4200423010","doi":"https://doi.org/10.1186/s13148-021-01204-4","title":"Genome-wide methylation patterns in Marfan syndrome","display_name":"Genome-wide methylation patterns in Marfan syndrome","publication_year":2021,"publication_date":"2021-12-01","ids":{"openalex":"https://openalex.org/W4200423010","doi":"https://doi.org/10.1186/s13148-021-01204-4","pmid":"https://pubmed.ncbi.nlm.nih.gov/34895303"},"language":"en","primary_location":{"id":"doi:10.1186/s13148-021-01204-4","doi":"https://doi.org/10.1186/s13148-021-01204-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-021-01204-4","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/counter/pdf/10.1186/s13148-021-01204-4","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://clinicalepigeneticsjournal.biomedcentral.com/counter/pdf/10.1186/s13148-021-01204-4","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Mitzi M. van Andel","orcid":"https://orcid.org/0000-0002-4629-568X","observed_orcids":["https://orcid.org/0000-0002-4629-568X"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Mitzi M. van Andel","raw_affiliation_strings":["Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.m.vanandel@amsterdamumc.nl","Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-4629-568X","affiliations":[{"raw_affiliation_string":"Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.m.vanandel@amsterdamumc.nl","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210151833","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087993254","display_name":"Maarten Groenink","orcid":"https://orcid.org/0000-0002-5837-0472","observed_orcids":["https://orcid.org/0000-0002-5837-0472"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Maarten Groenink","raw_affiliation_strings":["Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands","Department of Radiology, Amsterdam UMC, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Department of Radiology, Amsterdam UMC, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Maarten P. van den Berg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Maarten P. van den Berg","raw_affiliation_strings":["Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111576519","display_name":"Janneke Timmermans","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Janneke Timmermans","raw_affiliation_strings":["Department of Cardiology, Radboud University Hospital, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Radboud University Hospital, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427","https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014507131","display_name":"Arthur J.H.A. Scholte","orcid":"https://orcid.org/0000-0002-1762-2100","observed_orcids":["https://orcid.org/0000-0002-1762-2100"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Arthur J. H. A. Scholte","raw_affiliation_strings":["Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076337803","display_name":"Barbara J.M. Mulder","orcid":"https://orcid.org/0000-0001-8087-1786","observed_orcids":["https://orcid.org/0000-0001-8087-1786"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Barbara J. M. Mulder","raw_affiliation_strings":["Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051056050","display_name":"Aeilko Having Zwinderman","orcid":"https://orcid.org/0000-0003-0361-3139","observed_orcids":["https://orcid.org/0000-0003-0361-3139"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Aeilko H. Zwinderman","raw_affiliation_strings":["Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002187107","display_name":"Vivian de Waard","orcid":"https://orcid.org/0000-0002-9015-0779","observed_orcids":["https://orcid.org/0000-0002-9015-0779"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4405257531","display_name":"Amsterdam Cardiovascular Sciences","ror":"https://ror.org/05c9qnd49","country_code":"NL","type":"funder","lineage":["https://openalex.org/I4405257531"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Vivian de Waard","raw_affiliation_strings":["Department of Medical Biochemistry, Amsterdam UMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry, Amsterdam UMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I4405257531"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210151833","https://openalex.org/I887064364"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":1.256,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.79227423,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"13","issue":"1","first_page":"217","last_page":"217"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9990000128746033,"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/T11310","display_name":"Connective tissue disorders research","score":0.9990000128746033,"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":0.000699999975040555,"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/T11330","display_name":"Systemic Sclerosis and Related Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/marfan-syndrome","display_name":"Marfan syndrome","score":1.0},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9869999885559082},{"id":"https://openalex.org/keywords/epigenome-wide-association-study","display_name":"epigenome-wide association study","score":0.9179999828338623},{"id":"https://openalex.org/keywords/fibrillin-1","display_name":"fibrillin-1","score":0.9129999876022339},{"id":"https://openalex.org/keywords/aortic-diameter","display_name":"aortic diameter","score":0.8320000171661377},{"id":"https://openalex.org/keywords/aortic-dilation","display_name":"aortic dilatation","score":0.9779999852180481},{"id":"https://openalex.org/keywords/aortic-dissection","display_name":"aortic dissection","score":0.8519999980926514},{"id":"https://openalex.org/keywords/aortic-rupture","display_name":"aortic rupture","score":0.6579999923706055},{"id":"https://openalex.org/keywords/differentially-methylated-regions","display_name":"differentially methylated regions","score":0.8040000200271606},{"id":"https://openalex.org/keywords/differentially-methylated-positions","display_name":"differentially methylated positions","score":0.953000009059906},{"id":"https://openalex.org/keywords/protocadherins","display_name":"protocadherins","score":0.843999981880188},{"id":"https://openalex.org/keywords/connective-tissue-diseases","display_name":"connective tissue diseases","score":0.8029999732971191},{"id":"https://openalex.org/keywords/cardiovascular-events","display_name":"cardiovascular events","score":0.4830000102519989}],"concepts":[{"id":"https://openalex.org/C140173407","wikidata":"https://www.wikidata.org/wiki/Q1138358","display_name":"CpG site","level":5,"score":0.706538200378418},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.6414048075675964},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.622873842716217},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5527551770210266},{"id":"https://openalex.org/C154253233","wikidata":"https://www.wikidata.org/wiki/Q14862240","display_name":"Differentially methylated regions","level":5,"score":0.5496722459793091},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5278294682502747},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4952332079410553},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.46728453040122986},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4325879216194153},{"id":"https://openalex.org/C117717151","wikidata":"https://www.wikidata.org/wiki/Q3589155","display_name":"Epigenome","level":5,"score":0.4307517409324646},{"id":"https://openalex.org/C2780561598","wikidata":"https://www.wikidata.org/wiki/Q208562","display_name":"Marfan syndrome","level":2,"score":0.4127293825149536},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.28484052419662476},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2805805802345276},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2738860845565796},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.12200984358787537},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.11200311779975891}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D008297","descriptor_name":"Male","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":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false}],"locations_count":12,"locations":[{"id":"doi:10.1186/s13148-021-01204-4","doi":"https://doi.org/10.1186/s13148-021-01204-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-021-01204-4","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/counter/pdf/10.1186/s13148-021-01204-4","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},{"id":"pmid:34895303","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34895303","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":"Clinical epigenetics","raw_type":"Journal Article"},{"id":"pmh:oai:alma.31UKB_LEU:9940749515802711","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1887/3279776","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics, No. 1","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire/e926ed74-a429-4402-8e8b-93fdc13bf24e","doi":null,"is_oa":true,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/e926ed74-a429-4402-8e8b-93fdc13bf24e","pdf_url":"https://pure.amsterdamumc.nl/files/149137410/Genome-wide-methylation-patterns-in-marfan-syndrome.pdf","source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"van Andel, M M, Groenink, M, van den Berg, M P, Timmermans, J, Scholte, A J H A, Mulder, B J M, Zwinderman, A H & de Waard, V 2021, 'Genome-wide methylation patterns in Marfan syndrome', Clinical epigenetics, vol. 13, no. 1, 217. https://doi.org/10.1186/s13148-021-01204-4","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8665617","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8665617","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clin Epigenetics","raw_type":"Text"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/7a3c26a6-b50f-45cd-b29a-28bd4deb433d","doi":null,"is_oa":true,"landing_page_url":"https://pure.amc.nl/en/publications/genomewide-methylation-patterns-in-marfan-syndrome(7a3c26a6-b50f-45cd-b29a-28bd4deb433d).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical epigenetics, 13(1):217. Springer Verlag","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:lumc:oai:scholarlypublications.universiteitleiden.nl:item_3279776","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1887/3279776","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"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":"Clinical Epigenetics, 13(1). BMC","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.rug.nl:openaire/85e7d1a6-ba65-4d64-b71c-a7a752707c18","doi":null,"is_oa":true,"landing_page_url":"https://research.rug.nl/files/196512590/Genome_wide_methylation_patterns_in_Marfan_syndrome.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"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":"van Andel, M M, Groenink, M, van den Berg, M P, Timmermans, J, Scholte, A J H A, Mulder, B J M, Zwinderman, A H & de Waard, V 2021, 'Genome-wide methylation patterns in Marfan syndrome', Clinical Epigenetics, vol. 13, no. 1, 217, pp. 217. https://doi.org/10.1186/s13148-021-01204-4","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/241937","doi":null,"is_oa":false,"landing_page_url":"https://repository.ubn.ru.nl/handle/2066/241937","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Epigenetics, 13, 1","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:scholarlypublications.universiteitleiden.nl:item_3279776","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1887/3279776","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"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":"Clinical Epigenetics","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/241937","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/241937","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Epigenetics, 13","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:rug:oai:pure.rug.nl:publications/85e7d1a6-ba65-4d64-b71c-a7a752707c18","doi":null,"is_oa":true,"landing_page_url":"https://research.rug.nl/en/publications/85e7d1a6-ba65-4d64-b71c-a7a752707c18","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"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":"Clinical Epigenetics, 13(1):217. BMC","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1186/s13148-021-01204-4","doi":"https://doi.org/10.1186/s13148-021-01204-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-021-01204-4","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/counter/pdf/10.1186/s13148-021-01204-4","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7599999904632568,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4200423010.pdf","grobid_xml":"https://content.openalex.org/works/W4200423010.grobid-xml"},"referenced_works_count":83,"referenced_works":["https://openalex.org/W1836340926","https://openalex.org/W1964742833","https://openalex.org/W1973733107","https://openalex.org/W1976591528","https://openalex.org/W1979723182","https://openalex.org/W1985382182","https://openalex.org/W1987891430","https://openalex.org/W2006990386","https://openalex.org/W2009919294","https://openalex.org/W2017098189","https://openalex.org/W2048498913","https://openalex.org/W2063296194","https://openalex.org/W2066666285","https://openalex.org/W2078956491","https://openalex.org/W2081737308","https://openalex.org/W2086042935","https://openalex.org/W2092400388","https://openalex.org/W2102495832","https://openalex.org/W2106436246","https://openalex.org/W2107139378","https://openalex.org/W2107753444","https://openalex.org/W2112848098","https://openalex.org/W2120001000","https://openalex.org/W2128449069","https://openalex.org/W2134642866","https://openalex.org/W2135156264","https://openalex.org/W2139687036","https://openalex.org/W2142011070","https://openalex.org/W2153880951","https://openalex.org/W2162249260","https://openalex.org/W2169556367","https://openalex.org/W2266573952","https://openalex.org/W2327016653","https://openalex.org/W2396792185","https://openalex.org/W2505710817","https://openalex.org/W2512986265","https://openalex.org/W2513675333","https://openalex.org/W2520263595","https://openalex.org/W2525782575","https://openalex.org/W2565187265","https://openalex.org/W2565663971","https://openalex.org/W2579522787","https://openalex.org/W2610273507","https://openalex.org/W2624324752","https://openalex.org/W2714859763","https://openalex.org/W2739369957","https://openalex.org/W2745935147","https://openalex.org/W2750388892","https://openalex.org/W2775514234","https://openalex.org/W2790523805","https://openalex.org/W2794105756","https://openalex.org/W2803344251","https://openalex.org/W2885960546","https://openalex.org/W2888521061","https://openalex.org/W2905514066","https://openalex.org/W2912223713","https://openalex.org/W2915882994","https://openalex.org/W2951262789","https://openalex.org/W2962865476","https://openalex.org/W2967924487","https://openalex.org/W2969382515","https://openalex.org/W2971227980","https://openalex.org/W2979847926","https://openalex.org/W2980196051","https://openalex.org/W2980230672","https://openalex.org/W2995257649","https://openalex.org/W3003280117","https://openalex.org/W3034456007","https://openalex.org/W3038589694","https://openalex.org/W3045480960","https://openalex.org/W3080684102","https://openalex.org/W3083338110","https://openalex.org/W3089916374","https://openalex.org/W3090295751","https://openalex.org/W3090781966","https://openalex.org/W3118135535","https://openalex.org/W3124660819","https://openalex.org/W3125065035","https://openalex.org/W3130566064","https://openalex.org/W3131850249","https://openalex.org/W3132514097","https://openalex.org/W3139336062","https://openalex.org/W7000567434"],"related_works":["https://openalex.org/W1662175115","https://openalex.org/W4233664389","https://openalex.org/W2127540087","https://openalex.org/W2057635072","https://openalex.org/W4211113975","https://openalex.org/W4286742095","https://openalex.org/W4319927080","https://openalex.org/W2116754984","https://openalex.org/W2963862309","https://openalex.org/W4320158726"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Marfan":[2],"syndrome":[3],"(MFS)":[4],"is":[5,102],"a":[6,195,272,296],"connective":[7],"tissue":[8],"disorder":[9],"caused":[10],"by":[11],"mutations":[12],"in":[13,27,70,106,182,284,290,326],"the":[14,21,46,71,85,95,103,150,248,316,321],"Fibrillin-1":[15],"gene":[16,104,196,324],"(FBN1).":[17],"Here,":[18],"we":[19,91,212],"undertook":[20],"first":[22],"epigenome-wide":[23],"association":[24],"study":[25],"(EWAS)":[26],"patients":[28,65,183,291],"with":[29,38,66,179,184,201,220,229,245,292,303],"MFS":[30,39,67,138,251,285,293,327],"aiming":[31],"at":[32,139,235],"identifying":[33],"DNA":[34],"methylation":[35,81,124,166,299],"loci":[36,300],"associated":[37,178,200,219,228,302],"phenotypes":[40],"that":[41,175,197,216,227],"may":[42],"shed":[43],"light":[44],"on":[45,58,259,277,320],"disease":[47],"process.":[48],"Methods":[49],"The":[50,266],"Illumina":[51],"450":[52],"k":[53],"DNA-methylation":[54],"array":[55],"was":[56,78,88,198],"used":[57],"stored":[59],"peripheral":[60],"whole-blood":[61],"samples":[62],"of":[63,82,133,137,152,187,247,271,275,298,323],"190":[64],"originally":[68],"included":[69],"COMPARE":[72],"trial.":[73],"An":[74],"unbiased":[75],"genome-wide":[76],"approach":[77],"used,":[79],"and":[80,112,126,129,149,165,224,261,263,309],"CpG-sites":[83,93],"across":[84,94],"entire":[86],"genome":[87],"evaluated.":[89],"Additionally,":[90],"investigated":[92],"FBN1-locus":[96],"(15q21.1)":[97],"more":[98],"closely,":[99],"since":[100],"this":[101],"defective":[105],"MFS.":[107,185],"Differentially":[108,113],"Methylated":[109,114],"Positions":[110],"(DMPs)":[111],"Regions":[115],"(DMRs)":[116],"were":[117,141,168,217,243,256,281],"identified":[118,172,213,295],"through":[119],"regression":[120],"analysis.":[121],"Associations":[122],"between":[123,145],"levels":[125,167],"aortic":[127,146,163,180,221,304,306,310],"diameters":[128,181],"presence":[130],"or":[131,159,162,239],"absence":[132],"21":[134],"clinical":[135,153,230],"features":[136],"baseline":[140],"analyzed.":[142,169],"Moreover,":[143,211],"associations":[144,234],"diameter":[147,222],"change,":[148],"occurrence":[151],"events":[154],"(death":[155],"any":[156,246],"cause,":[157],"type-A":[158],"-B":[160],"dissection/rupture,":[161],"surgery)":[164],"Results":[170],"We":[171],"28":[173],"DMPs":[174,189,215],"are":[176],"significantly":[177,218,301],"Seven":[186],"these":[188],"(25%)":[190],"could":[191],"be":[192],"allocated":[193],"to":[194,315],"previously":[199],"cardiovascular":[202],"diseases":[203],"(HDAC4,":[204],"IGF2BP3,":[205],"CASZ1,":[206],"SDK1,":[207],"PCDHGA1,":[208],"DIO3,":[209],"PTPRN2).":[210],"seven":[214],"change":[223],"five":[225],"DMP\u2019s":[226],"events.":[231,311],"No":[232],"significant":[233],"p":[236,240],"<":[237,241],"10\u20138":[238],"10\u20136":[242],"found":[244],"non-cardiovascular":[249],"phenotypic":[250],"features.":[252],"Investigating":[253],"DMRs,":[254],"clusters":[255],"seen":[257],"mostly":[258],"X-":[260],"Y,":[262],"chromosome":[264,278],"18\u201322.":[265],"remaining":[267],"DMRs":[268],"indicated":[269],"involvement":[270],"large":[273],"family":[274],"protocadherins":[276],"5,":[279],"which":[280],"not":[282],"reported":[283],"before.":[286],"Conclusion":[287],"This":[288],"EWAS":[289],"has":[294],"number":[297],"diameters,":[305],"dilatation":[307],"rate":[308],"Our":[312],"findings":[313],"add":[314],"slowly":[317],"growing":[318],"literature":[319],"regulation":[322],"expression":[325],"patients.":[328]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3}],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2025-10-10T00:00:00"}
