{"id":"https://openalex.org/W4382403705","doi":"https://doi.org/10.3390/ijms241310712","title":"Defining the 3\u2032Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome","display_name":"Defining the 3\u2032Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome","publication_year":2023,"publication_date":"2023-06-27","ids":{"openalex":"https://openalex.org/W4382403705","doi":"https://doi.org/10.3390/ijms241310712","pmid":"https://pubmed.ncbi.nlm.nih.gov/37445892","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10342127"},"language":"en","primary_location":{"id":"doi:10.3390/ijms241310712","doi":"https://doi.org/10.3390/ijms241310712","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241310712","pdf_url":"https://www.mdpi.com/1422-0067/24/13/10712/pdf?version=1687861995","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/24/13/10712/pdf?version=1687861995","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038932597","display_name":"David Eugeny Godler","orcid":"https://orcid.org/0000-0002-6405-269X","observed_orcids":["https://orcid.org/0000-0002-6405-269X"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"David E. Godler","raw_affiliation_strings":["Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia","Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"],"raw_orcid":"https://orcid.org/0000-0002-6405-269X","affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077032596","display_name":"Yoshimi Inaba","orcid":"https://orcid.org/0000-0001-6397-8856","observed_orcids":["https://orcid.org/0000-0001-6397-8856"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Yoshimi Inaba","raw_affiliation_strings":["Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnosis and Development, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075177965","display_name":"Minh Bui","orcid":"https://orcid.org/0000-0002-9099-6870","observed_orcids":["https://orcid.org/0000-0002-9099-6870"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Minh Q. Bui","raw_affiliation_strings":["Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3052, Australia"],"raw_orcid":"https://orcid.org/0000-0002-9099-6870","affiliations":[{"raw_affiliation_string":"Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3052, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032282205","display_name":"David I. Francis","orcid":"https://orcid.org/0000-0002-4620-9315","observed_orcids":["https://orcid.org/0000-0002-4620-9315"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"David Francis","raw_affiliation_strings":["Victorian Clinical Genetics Services and Murdoch Children\u2019s Research Institute, The Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Victorian Clinical Genetics Services and Murdoch Children\u2019s Research Institute, The Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066213478","display_name":"Cindy D. Skinner","orcid":"https://orcid.org/0000-0002-7841-8277","observed_orcids":["https://orcid.org/0000-0002-7841-8277"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cindy Skinner","raw_affiliation_strings":["Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA"],"raw_orcid":"https://orcid.org/0000-0002-7841-8277","affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"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":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":["Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA"],"raw_orcid":"https://orcid.org/0000-0002-7770-1943","affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079377834","display_name":"David J. Amor","orcid":"https://orcid.org/0000-0001-7191-8511","observed_orcids":["https://orcid.org/0000-0001-7191-8511"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"David J. Amor","raw_affiliation_strings":["Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia","Neurodisability and Rehabilitation, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"],"raw_orcid":"https://orcid.org/0000-0001-7191-8511","affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3052, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Neurodisability and Rehabilitation, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5038932597"],"corresponding_institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210150290"],"apc_list":{"value":2500,"currency":"CHF","value_usd":2780},"apc_paid":{"value":2500,"currency":"CHF","value_usd":2780},"fwci":0.4971,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.61020473,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"24","issue":"13","first_page":"10712","last_page":"10712"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9984999895095825,"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":0.9984999895095825,"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":0.0012000000569969416,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9570000171661377},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9509999752044678},{"id":"https://openalex.org/keywords/fmr1-full-mutation","display_name":"FMR1 full mutation","score":0.7480000257492065},{"id":"https://openalex.org/keywords/fmr1-premutation","display_name":"fragile X premutation","score":0.9919999837875366},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.8460000157356262},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8840000033378601},{"id":"https://openalex.org/keywords/epigenetic-biomarkers","display_name":"epigenetic biomarkers","score":0.6299999952316284}],"concepts":[{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.8948484659194946},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.8429766893386841},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.8345487713813782},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.82774418592453},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.8160351514816284},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.7922511696815491},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6570234298706055},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.560632050037384},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45461639761924744},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3452264070510864},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.26540422439575195},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2594372034072876},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.11891639232635498}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D009154","descriptor_name":"Mutation","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":"D049951","descriptor_name":"X Chromosome Inactivation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3390/ijms241310712","doi":"https://doi.org/10.3390/ijms241310712","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241310712","pdf_url":"https://www.mdpi.com/1422-0067/24/13/10712/pdf?version=1687861995","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10342127","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10342127","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10342127/pdf/ijms-24-10712.pdf","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Mol Sci","raw_type":"Text"},{"id":"pmid:37445892","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37445892","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":"International journal of molecular sciences","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3390/ijms241310712","doi":"https://doi.org/10.3390/ijms241310712","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms241310712","pdf_url":"https://www.mdpi.com/1422-0067/24/13/10712/pdf?version=1687861995","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1149803236","display_name":null,"funder_award_id":"1141334","funder_id":"https://openalex.org/F4906014721","funder_display_name":"Medical Research Future Fund"},{"id":"https://openalex.org/G2778818673","display_name":null,"funder_award_id":"MRFF1141334","funder_id":"https://openalex.org/F4906014721","funder_display_name":"Medical Research Future Fund"},{"id":"https://openalex.org/G3913502888","display_name":"A new diagnostic test for superior detection of Fragile X Syndrome in children and newborns.","funder_award_id":"1017263","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G4480733266","display_name":null,"funder_award_id":"104299 and 1103389","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G7221453985","display_name":null,"funder_award_id":"MRFF1141334","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G8080689608","display_name":"Novel Fragile X Syndrome prevalence estimates in 100,000 Australian newborns, prognostic and health-economic outcomes: a retrospective newborn screening study","funder_award_id":"1103389","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G8500801734","display_name":null,"funder_award_id":"104299","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320312687","display_name":"Children\u2019s Hospital of Wisconsin Research Institute","ror":"https://ror.org/058g1h315"},{"id":"https://openalex.org/F4320312688","display_name":"Children's Hospital Foundation","ror":"https://ror.org/03g60bf21"},{"id":"https://openalex.org/F4320315122","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77"},{"id":"https://openalex.org/F4320322858","display_name":"State Government of Victoria","ror":"https://ror.org/02xvc5r05"},{"id":"https://openalex.org/F4320329920","display_name":"Victorian Brain Bank","ror":null},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"},{"id":"https://openalex.org/F4906014721","display_name":"Medical Research Future Fund","ror":"https://ror.org/0513v5k17"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4382403705.pdf","grobid_xml":"https://content.openalex.org/works/W4382403705.grobid-xml"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W1607849052","https://openalex.org/W1969759955","https://openalex.org/W1972708333","https://openalex.org/W1988498459","https://openalex.org/W2004772569","https://openalex.org/W2008270359","https://openalex.org/W2012322293","https://openalex.org/W2012974517","https://openalex.org/W2016897307","https://openalex.org/W2034014202","https://openalex.org/W2066415631","https://openalex.org/W2069894990","https://openalex.org/W2077820191","https://openalex.org/W2088123082","https://openalex.org/W2089579982","https://openalex.org/W2091926916","https://openalex.org/W2092992881","https://openalex.org/W2097267337","https://openalex.org/W2101480061","https://openalex.org/W2107626432","https://openalex.org/W2120156005","https://openalex.org/W2124449321","https://openalex.org/W2135814888","https://openalex.org/W2138660056","https://openalex.org/W2144550671","https://openalex.org/W2149919973","https://openalex.org/W2166329705","https://openalex.org/W2167110137","https://openalex.org/W2168889463","https://openalex.org/W2170525383","https://openalex.org/W2207278236","https://openalex.org/W2795244195","https://openalex.org/W3128666796"],"related_works":["https://openalex.org/W2244927509","https://openalex.org/W4388733961","https://openalex.org/W2170525383","https://openalex.org/W7096997475","https://openalex.org/W2089579982","https://openalex.org/W2066415631","https://openalex.org/W2167110137","https://openalex.org/W2263356275","https://openalex.org/W4308635056","https://openalex.org/W2124449321"],"abstract_inverted_index":{"This":[0],"study":[1],"characterizes":[2],"the":[3,34,38,88,94,107,124,129,160,165,175,199,209],"DNA":[4,217],"methylation":[5,122,158,191,218],"patterns":[6],"specific":[7],"to":[8,80,151,195],"fragile":[9],"X":[10,26,152,196],"syndrome":[11],"(FXS)":[12],"with":[13,52,68,91,128,172],"a":[14,72,81,118,205],"full":[15],"mutation":[16],"(FM":[17],">":[18],"200":[19],"CGGs),":[20,24],"premutation":[21],"(PM":[22],"55\u2013199":[23],"and":[25,30,47,54,66,96,102,109,164,177,189,201,213],"inactivation":[27,197],"in":[28,75,87,93,121,131,174,198],"blood":[29,108,200],"brain":[31,110,202],"tissues":[32,58,203],"at":[33,159],"3\u2032":[35,84,161],"boundary":[36,86,163],"of":[37,211],"FMR1":[39,186],"promoter.":[40],"Blood":[41],"was":[42,71,104,168,193],"analyzed":[43,62],"from":[44,63],"95":[45],"controls":[46,65,130],"462":[48],"individuals":[49],"(32%":[50],"males)":[51,60],"FM":[53,89,178,214],"PM":[55,97,156,212],"alleles.":[56],"Brain":[57],"(62%":[59],"were":[61,149],"12":[64],"4":[67],"FXS.":[69],"There":[70],"significant":[73,119],"increase":[74],"intron":[76,114,142,146,187],"1":[77,143,188],"methylation,":[78],"extending":[79],"newly":[82],"defined":[83],"epigenetic":[85,162],"compared":[90,127,171],"that":[92,173,192],"control":[95,176],"groups":[98,126,179],"(p":[99,134,180],"<":[100,135,181],"0.0001),":[101],"this":[103],"consistent":[105],"between":[106],"tissues.":[111],"A":[112],"distinct":[113],"2":[115,147,190],"site":[116],"showed":[117],"decrease":[120],"for":[123,208],"FXS":[125],"both":[132],"sexes":[133],"0.01).":[136],"In":[137,154,183],"all":[138,155],"female":[139],"groups,":[140,157],"most":[141],"(but":[144],"not":[145],"sites)":[148],"sensitive":[150,194],"inactivation.":[153],"proximal":[166],"sites":[167],"significantly":[169],"decreased":[170],"0.0001).":[182],"conclusion,":[184],"abnormal":[185],"provided":[204],"novel":[206],"avenue":[207],"detection":[210],"alleles":[215],"through":[216],"analysis.":[219]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2023-06-29T00:00:00"}