{"id":"https://openalex.org/W2145271387","doi":"https://doi.org/10.1017/erm.2015.11","title":"Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis","display_name":"Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2145271387","doi":"https://doi.org/10.1017/erm.2015.11","mag":"2145271387","pmid":"https://pubmed.ncbi.nlm.nih.gov/26132880","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4836209"},"language":"en","primary_location":{"id":"doi:10.1017/erm.2015.11","doi":"https://doi.org/10.1017/erm.2015.11","is_oa":true,"landing_page_url":"https://doi.org/10.1017/erm.2015.11","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/AD27EA132A869B9EBCB2B65062B7EAB4/S1462399415000113a.pdf/div-class-title-detection-of-skewed-x-chromosome-inactivation-in-fragile-x-syndrome-and-x-chromosome-aneuploidy-using-quantitative-melt-analysis-div.pdf","source":{"id":"https://openalex.org/S207438450","display_name":"Expert Reviews in Molecular Medicine","issn_l":"1462-3994","issn":["1462-3994"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Expert Reviews in Molecular Medicine","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/AD27EA132A869B9EBCB2B65062B7EAB4/S1462399415000113a.pdf/div-class-title-detection-of-skewed-x-chromosome-inactivation-in-fragile-x-syndrome-and-x-chromosome-aneuploidy-using-quantitative-melt-analysis-div.pdf","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/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":true,"raw_author_name":"David E. Godler","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","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/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":"Yoshimi Inaba","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"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, South CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, South CA, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"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":"Quang M. Bui","raw_affiliation_strings":["Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, 3053, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, 3053, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014221346","display_name":"Elva Z. Shi","orcid":null,"observed_orcids":[]},"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":"Elva Z. Shi","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100395645","display_name":"Xin Li","orcid":"https://orcid.org/0000-0003-0773-6232","observed_orcids":["https://orcid.org/0000-0003-0773-6232"]},"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":"Xin Li","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077362438","display_name":"Amy S. Herlihy","orcid":null,"observed_orcids":[]},"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":"Amy S. Herlihy","raw_affiliation_strings":["Public Health Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","Andrology Australia, Clayton, Victoria, 3168, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Public Health Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]},{"raw_affiliation_string":"Andrology Australia, Clayton, Victoria, 3168, Australia","institution_ids":[]}]},{"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, South CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, South CA, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086196058","display_name":"Randi Jenssen Hagerman","orcid":"https://orcid.org/0000-0001-5029-8448","observed_orcids":["https://orcid.org/0000-0001-5029-8448","https://orcid.org/0000-0002-8026-6559"]},"institutions":[{"id":"https://openalex.org/I4210160527","display_name":"University of California Davis Medical Center","ror":"https://ror.org/05t6gpm70","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160527","https://openalex.org/I4210160856"]},{"id":"https://openalex.org/I84218800","display_name":"University of California, Davis","ror":"https://ror.org/05rrcem69","country_code":"US","type":"education","lineage":["https://openalex.org/I84218800"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Randi J. Hagerman","raw_affiliation_strings":["The MIND Institute, University of California, Davis Medical Center, Sacramento, CA, USA","Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The MIND Institute, University of California, Davis Medical Center, Sacramento, CA, USA","institution_ids":["https://openalex.org/I4210160527"]},{"raw_affiliation_string":"Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, CA, USA","institution_ids":["https://openalex.org/I84218800"]}]},{"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":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","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/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 J. Amor","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033098957","display_name":"Sylvia A. Metcalfe","orcid":"https://orcid.org/0000-0002-5714-5716","observed_orcids":["https://orcid.org/0000-0002-5714-5716"]},"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":"Sylvia A. Metcalfe","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia","Genetics Education and Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Genetics Education and Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023667273","display_name":"John Llewelyn Hopper","orcid":"https://orcid.org/0000-0002-8567-173X","observed_orcids":["https://orcid.org/0000-0002-8567-173X","https://orcid.org/0000-0003-2445-8043"]},"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":"John L. Hopper","raw_affiliation_strings":["Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, 3053, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, 3053, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109040195","display_name":"Howard Robert Slater","orcid":"https://orcid.org/0009-0000-3717-8724","observed_orcids":["https://orcid.org/0009-0000-3717-8724"]},"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/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":"Howard R. Slater","raw_affiliation_strings":["Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, 3052, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne Victoria, 3052, Australia","institution_ids":["https://openalex.org/I165779595"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5038932597"],"corresponding_institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":{"value":3550,"currency":"USD","value_usd":3550},"fwci":0.1931,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.205074,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"17","issue":null,"first_page":"e13","last_page":"e13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9653000235557556,"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":0.9653000235557556,"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":0.02410000003874302,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/skewed-x-inactivation","display_name":"X-inactivation skewing","score":0.9570000171661377},{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9070000052452087},{"id":"https://openalex.org/keywords/x-chromosome-aneuploidy","display_name":"X chromosome aneuploidy","score":0.8519999980926514},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.6079999804496765},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.7919999957084656},{"id":"https://openalex.org/keywords/klinefelter-syndrome","display_name":"Klinefelter syndrome","score":0.8080000281333923},{"id":"https://openalex.org/keywords/sex-chromosome-aneuploidy","display_name":"sex chromosome aneuploidy","score":0.9129999876022339},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.6399999856948853}],"concepts":[{"id":"https://openalex.org/C4323932","wikidata":"https://www.wikidata.org/wiki/Q898914","display_name":"X-inactivation","level":4,"score":0.8503520488739014},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.8462350368499756},{"id":"https://openalex.org/C2590687","wikidata":"https://www.wikidata.org/wiki/Q7534814","display_name":"Skewed X-inactivation","level":5,"score":0.8122361898422241},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.6670879125595093},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.6308101415634155},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5313463807106018},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.5261791944503784},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5209532976150513},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5013124942779541},{"id":"https://openalex.org/C201492766","wikidata":"https://www.wikidata.org/wiki/Q84087","display_name":"Genomic imprinting","level":5,"score":0.4819909930229187},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.47829633951187134},{"id":"https://openalex.org/C140173407","wikidata":"https://www.wikidata.org/wiki/Q1138358","display_name":"CpG site","level":5,"score":0.46831852197647095},{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.42489174008369446},{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.4229356646537781},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.41528692841529846},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3607133626937866},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3520399332046509},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.32146644592285156},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.20882168412208557},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.14794856309890747}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009691","descriptor_name":"Nucleic Acid Denaturation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012463","descriptor_name":"Saliva","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018899","descriptor_name":"CpG Islands","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":"D041321","descriptor_name":"Chromosomes, Human, X","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":true},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1017/erm.2015.11","doi":"https://doi.org/10.1017/erm.2015.11","is_oa":true,"landing_page_url":"https://doi.org/10.1017/erm.2015.11","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/AD27EA132A869B9EBCB2B65062B7EAB4/S1462399415000113a.pdf/div-class-title-detection-of-skewed-x-chromosome-inactivation-in-fragile-x-syndrome-and-x-chromosome-aneuploidy-using-quantitative-melt-analysis-div.pdf","source":{"id":"https://openalex.org/S207438450","display_name":"Expert Reviews in Molecular Medicine","issn_l":"1462-3994","issn":["1462-3994"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Expert Reviews in Molecular Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4836209","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4836209","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Expert Rev Mol Med","raw_type":"Text"},{"id":"pmid:26132880","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26132880","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":"Expert reviews in molecular medicine","raw_type":"Journal Article"},{"id":"pmh:oai:jupiter.its.unimelb.edu.au:11343/260909","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11343/260909","pdf_url":"http://hdl.handle.net/11343/260909","source":{"id":"https://openalex.org/S4377196259","display_name":"Minerva Access (University of Melbourne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I165779595","host_organization_name":"The University of Melbourne","host_organization_lineage":["https://openalex.org/I165779595"],"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":null,"raw_type":"Journal Article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt7qt2f52m","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/7qt2f52m","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt7qt2f52m","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/7qt2f52m","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"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":null,"raw_type":"article"}],"best_oa_location":{"id":"doi:10.1017/erm.2015.11","doi":"https://doi.org/10.1017/erm.2015.11","is_oa":true,"landing_page_url":"https://doi.org/10.1017/erm.2015.11","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/AD27EA132A869B9EBCB2B65062B7EAB4/S1462399415000113a.pdf/div-class-title-detection-of-skewed-x-chromosome-inactivation-in-fragile-x-syndrome-and-x-chromosome-aneuploidy-using-quantitative-melt-analysis-div.pdf","source":{"id":"https://openalex.org/S207438450","display_name":"Expert Reviews in Molecular Medicine","issn_l":"1462-3994","issn":["1462-3994"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Expert Reviews in Molecular Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9074000120162964,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G9000315334","display_name":"Genotype-Phenotype Relationships in Fragile X Families","funder_award_id":"R01HD036071","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320320971","display_name":"Monash University","ror":"https://ror.org/02bfwt286"},{"id":"https://openalex.org/F4320322858","display_name":"State Government of Victoria","ror":"https://ror.org/02xvc5r05"},{"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/F4320337364","display_name":"National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2145271387.pdf","grobid_xml":"https://content.openalex.org/works/W2145271387.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1511922211","https://openalex.org/W1981235471","https://openalex.org/W1986826633","https://openalex.org/W1991289641","https://openalex.org/W1996396914","https://openalex.org/W1996781163","https://openalex.org/W2002401075","https://openalex.org/W2012500458","https://openalex.org/W2031780624","https://openalex.org/W2037606715","https://openalex.org/W2042372127","https://openalex.org/W2048371086","https://openalex.org/W2061886522","https://openalex.org/W2066415631","https://openalex.org/W2069017725","https://openalex.org/W2075744925","https://openalex.org/W2098362718","https://openalex.org/W2099657923","https://openalex.org/W2101480061","https://openalex.org/W2108570063","https://openalex.org/W2120156005","https://openalex.org/W2124255466","https://openalex.org/W2124449321","https://openalex.org/W2133766123","https://openalex.org/W2138248068","https://openalex.org/W2140394554","https://openalex.org/W2143729264","https://openalex.org/W2153962831","https://openalex.org/W2166329705","https://openalex.org/W2170525383","https://openalex.org/W6630686592"],"related_works":["https://openalex.org/W2143729264","https://openalex.org/W1981235471","https://openalex.org/W7098327578","https://openalex.org/W2982180287","https://openalex.org/W2170525383","https://openalex.org/W2040773687","https://openalex.org/W4214751547","https://openalex.org/W2012500458","https://openalex.org/W2066415631","https://openalex.org/W2207278236"],"abstract_inverted_index":{"Methylation":[0],"of":[1,93,103,168,201],"the":[2,49,143,154,169,179],"fragile":[3,14,27],"X":[4,15,28,163],"mental":[5],"retardation":[6],"1":[7,11],"(FMR1)":[8],"exon":[9],"1/intron":[10],"boundary":[12],"positioned":[13],"related":[16],"epigenetic":[17],"element":[18],"2":[19],"(FREE2),":[20],"reveals":[21],"skewed":[22,94,151,205],"X-chromosome":[23],"inactivation":[24],"(XCI)":[25],"in":[26,96,100,146,157,166,183,207],"syndrome":[29],"full":[30],"mutation":[31],"(FM:":[32],"CGG":[33],">":[34],"200)":[35],"females.":[36],"XCI":[37,95,140,152,206],"skewing":[38,141],"has":[39],"been":[40],"also":[41,174],"linked":[42],"to":[43,203],"abnormal":[44],"X-linked":[45],"gene":[46],"expression":[47],"with":[48,82,133,159,178,210],"broader":[50],"clinical":[51],"impact":[52],"for":[53,91],"sex":[54],"chromosome":[55,136],"aneuploidies":[56],"(SCAs).":[57],"In":[58,196],"this":[59],"study,":[60],"10":[61],"FREE2":[62],"CpG":[63],"sites":[64,76],"were":[65],"targeted":[66],"using":[67],"methylation":[68],"specific":[69],"quantitative":[70],"melt":[71],"analysis":[72],"(MS-QMA),":[73],"including":[74],"3":[75,160],"that":[77],"could":[78],"not":[79],"be":[80],"analysed":[81],"previously":[83],"used":[84],"EpiTYPER":[85,180],"system.":[86],"The":[87],"method":[88,182],"was":[89],"applied":[90],"detection":[92],"FM":[97,121,147,184],"females":[98,187],"and":[99,109,119,122,149,165,186,191],"different":[101],"types":[102],"SCA.":[104],"We":[105],"tested":[106],"venous":[107],"blood":[108],"saliva":[110],"DNA":[111],"collected":[112],"from":[113],"107":[114],"controls":[115],"(CGG":[116],"<":[117,189,194],"40),":[118],"148":[120],"90":[123],"SCA":[124,158],"individuals.":[125,171],"MS-QMA":[126,172,202],"identified:":[127],"(i)":[128],"most":[129],"SCAs":[130,192],"if":[131],"combined":[132],"a":[134],"Y":[135],"test;":[137],"(ii)":[138],"locus-specific":[139],"towards":[142,153],"hypomethylated":[144],"state":[145,156],"females;":[148],"(iii)":[150],"hypermethylated":[155],"or":[161],"more":[162],"chromosomes,":[164],"5%":[167],"47,XXY":[170],"output":[173],"showed":[175],"significant":[176],"correlation":[177],"reference":[181],"males":[185],"(P":[188,193],"0.0001)":[190],"0.05).":[195],"conclusion,":[197],"we":[198],"demonstrate":[199],"use":[200],"quantify":[204],"two":[208],"applications":[209],"diagnostic":[211],"utility.":[212]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
