{"id":"https://openalex.org/W2053440263","doi":"https://doi.org/10.1038/ejhg.2009.183","title":"Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei","display_name":"Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei","publication_year":2009,"publication_date":"2009-11-04","ids":{"openalex":"https://openalex.org/W2053440263","doi":"https://doi.org/10.1038/ejhg.2009.183","mag":"2053440263","pmid":"https://pubmed.ncbi.nlm.nih.gov/19888305","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2843500"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2009.183","doi":"https://doi.org/10.1038/ejhg.2009.183","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.183","pdf_url":"https://www.nature.com/articles/ejhg2009183.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/ejhg2009183.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087654254","display_name":"Peter S Masny","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter S Masny","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA 92697, USA","Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA 92697, USA","institution_ids":["https://openalex.org/I204250578"]},{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073711577","display_name":"On Ying A. Chan","orcid":"https://orcid.org/0000-0002-8474-2073","observed_orcids":["https://orcid.org/0000-0002-8474-2073"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"On Ying A Chan","raw_affiliation_strings":["Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands","Department of Physiological Chemistry, University Medical Center Utrecht, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Department of Physiological Chemistry, University Medical Center Utrecht, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016557709","display_name":"Jessica C. de Greef","orcid":"https://orcid.org/0000-0002-2819-6098","observed_orcids":["https://orcid.org/0000-0002-2819-6098"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jessica C de Greef","raw_affiliation_strings":["Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ulla Bengtsson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ulla Bengtsson","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041376137","display_name":"Melanie Ehrlich","orcid":"https://orcid.org/0000-0002-8187-4476","observed_orcids":["https://orcid.org/0000-0002-8187-4476"]},"institutions":[{"id":"https://openalex.org/I114832834","display_name":"Tulane University","ror":"https://ror.org/04vmvtb21","country_code":"US","type":"education","lineage":["https://openalex.org/I114832834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melanie Ehrlich","raw_affiliation_strings":["Program in Human Genetics, Tulane University, New Orleans, LA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Human Genetics, Tulane University, New Orleans, LA, USA","institution_ids":["https://openalex.org/I114832834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000968184","display_name":"Rabi Tawil","orcid":"https://orcid.org/0000-0003-1394-1494","observed_orcids":["https://orcid.org/0000-0003-1394-1494"]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rabi Tawil","raw_affiliation_strings":["Department of Neurology, Fields Center for FSHD and Neuromuscular Research, University of Rochester, Rochester, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Fields Center for FSHD and Neuromuscular Research, University of Rochester, Rochester, NY, USA","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071507804","display_name":"Leslie F. Lock","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leslie F Lock","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043174620","display_name":"Jane Hewitt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jane E Hewitt","raw_affiliation_strings":["Department of Mammalian Genetics, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mammalian Genetics, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033307102","display_name":"Jennifer T. Stocksdale","orcid":"https://orcid.org/0000-0002-4304-6266","observed_orcids":["https://orcid.org/0000-0002-4304-6266"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer Stocksdale","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002826119","display_name":"Jorge H Martin","orcid":"https://orcid.org/0000-0002-6312-7637","observed_orcids":["https://orcid.org/0000-0002-6312-7637"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jorge H Martin","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011322150","display_name":"Silv\u00e8re M. van der Maarel","orcid":"https://orcid.org/0000-0001-8103-711X","observed_orcids":["https://orcid.org/0000-0001-8103-711X"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Silvere M van der Maarel","raw_affiliation_strings":["Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110132363","display_name":"Sara T. Winokur","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Sara T Winokur","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, CA, USA","institution_ids":["https://openalex.org/I204250578"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5110132363"],"corresponding_institution_ids":["https://openalex.org/I204250578"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":2.0876,"has_fulltext":true,"cited_by_count":46,"citation_normalized_percentile":{"value":0.86908129,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"18","issue":"4","first_page":"448","last_page":"456"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7470999956130981,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.7470999956130981,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.18230000138282776,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.012199999764561653,"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/facioscapulohumeral-muscular-dystrophy","display_name":"facioscapulohumeral muscular dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/d4z4-repeat-contraction","display_name":"D4Z4 repeat contraction","score":0.9010000228881836},{"id":"https://openalex.org/keywords/chromosome-4q35","display_name":"chromosome 4q35","score":0.8489999771118164},{"id":"https://openalex.org/keywords/nascent-rna","display_name":"nascent RNA","score":0.6790000200271606},{"id":"https://openalex.org/keywords/allele-specific-transcription","display_name":"allele-specific transcription","score":0.8429999947547913},{"id":"https://openalex.org/keywords/cis-regulatory-effects","display_name":"cis-regulatory effects","score":0.515999972820282},{"id":"https://openalex.org/keywords/position-effect","display_name":"position effect","score":0.6970000267028809},{"id":"https://openalex.org/keywords/myonuclei","display_name":"myonuclei","score":0.6880000233650208},{"id":"https://openalex.org/keywords/epigenetic-silencing","display_name":"epigenetic silencing","score":0.5759999752044678},{"id":"https://openalex.org/keywords/myotubes","display_name":"myotubes","score":0.527999997138977}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7465406656265259},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5744479298591614},{"id":"https://openalex.org/C179926584","wikidata":"https://www.wikidata.org/wiki/Q207714","display_name":"Transcription (linguistics)","level":2,"score":0.551188051700592},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5458741784095764},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.5431106090545654},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.5222243070602417},{"id":"https://openalex.org/C103435993","wikidata":"https://www.wikidata.org/wiki/Q837783","display_name":"Heterochromatin","level":4,"score":0.4757899045944214},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.4685429334640503},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.43787655234336853},{"id":"https://openalex.org/C2779981540","wikidata":"https://www.wikidata.org/wiki/Q1399182","display_name":"Facioscapulohumeral muscular dystrophy","level":3,"score":0.4310571551322937},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.42724573612213135},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002843","descriptor_name":"Chromatin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002894","descriptor_name":"Chromosomes, Human, Pair 4","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","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":"D008856","descriptor_name":"Microscopy, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014158","descriptor_name":"Transcription, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020080","descriptor_name":"Tandem Repeat Sequences","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020391","descriptor_name":"Muscular Dystrophy, Facioscapulohumeral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D032446","descriptor_name":"Myoblasts","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D032446","descriptor_name":"Myoblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1038/ejhg.2009.183","doi":"https://doi.org/10.1038/ejhg.2009.183","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.183","pdf_url":"https://www.nature.com/articles/ejhg2009183.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:19888305","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19888305","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2843500","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2843500/","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmh:lumc:oai:scholarlypublications.universiteitleiden.nl:item_3009680","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/109726","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics, 18(4), 448 - 456","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:alma.31UKB_LEU:9940753018502711","doi":null,"is_oa":false,"landing_page_url":"https://scholarlypublications.universiteitleiden.nl/handle/1887/109726","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics, Vol. 18, no. 4, p. 448-456","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:openaccess.leidenuniv.nl:1887/109726","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/109726","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"18","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:scholarlypublications.universiteitleiden.nl:item_3009680","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/1887/109726","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics","raw_type":"Article / Letter to editor"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2009.183","doi":"https://doi.org/10.1038/ejhg.2009.183","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.183","pdf_url":"https://www.nature.com/articles/ejhg2009183.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8371999859809875,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6435507740","display_name":"FSHD: Chromatin Structure, Looping, & Expression","funder_award_id":"R01NS048859","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320308306","display_name":"Muscular Dystrophy Association","ror":"https://ror.org/01frxsf98"},{"id":"https://openalex.org/F4320311569","display_name":"FSH Society","ror":"https://ror.org/03tqsvs90"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2053440263.pdf","grobid_xml":"https://content.openalex.org/works/W2053440263.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1506478892","https://openalex.org/W1600868357","https://openalex.org/W1964930281","https://openalex.org/W1965428318","https://openalex.org/W1965824542","https://openalex.org/W1966805460","https://openalex.org/W1973726261","https://openalex.org/W1985659366","https://openalex.org/W1986905781","https://openalex.org/W1992028127","https://openalex.org/W1997058353","https://openalex.org/W2004474116","https://openalex.org/W2013492776","https://openalex.org/W2013560484","https://openalex.org/W2014889497","https://openalex.org/W2016109355","https://openalex.org/W2024736438","https://openalex.org/W2026431435","https://openalex.org/W2029821294","https://openalex.org/W2036528207","https://openalex.org/W2037293161","https://openalex.org/W2059659618","https://openalex.org/W2076732839","https://openalex.org/W2077166094","https://openalex.org/W2082127114","https://openalex.org/W2084297427","https://openalex.org/W2086629747","https://openalex.org/W2088714421","https://openalex.org/W2093618454","https://openalex.org/W2113144753","https://openalex.org/W2113463790","https://openalex.org/W2116284747","https://openalex.org/W2118562875","https://openalex.org/W2119017402","https://openalex.org/W2125585142","https://openalex.org/W2132673351","https://openalex.org/W2158923719","https://openalex.org/W2161098433","https://openalex.org/W2164828778","https://openalex.org/W2166015861","https://openalex.org/W2168879519","https://openalex.org/W4285719527","https://openalex.org/W4388246721"],"related_works":["https://openalex.org/W2942854035","https://openalex.org/W2158923719","https://openalex.org/W2946548320","https://openalex.org/W2037293161","https://openalex.org/W2132673351","https://openalex.org/W2060999344","https://openalex.org/W243017329","https://openalex.org/W1973726261","https://openalex.org/W1964027231","https://openalex.org/W2162440278"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}