{"id":"https://openalex.org/W1984847337","doi":"https://doi.org/10.1038/sj.ejhg.5201302","title":"Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure","display_name":"Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure","publication_year":2004,"publication_date":"2004-10-13","ids":{"openalex":"https://openalex.org/W1984847337","doi":"https://doi.org/10.1038/sj.ejhg.5201302","mag":"1984847337","pmid":"https://pubmed.ncbi.nlm.nih.gov/15483646"},"language":"en","primary_location":{"id":"doi:10.1038/sj.ejhg.5201302","doi":"https://doi.org/10.1038/sj.ejhg.5201302","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5201302","pdf_url":null,"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","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089869863","display_name":"Marzena Gaj\u0119cka","orcid":"https://orcid.org/0000-0001-7468-2604","observed_orcids":["https://orcid.org/0000-0001-7468-2604"]},"institutions":[{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marzena Gajecka","raw_affiliation_strings":["Health Research and Education Center, Washington State University, Spokane, WA 99210, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA 99210, USA","institution_ids":["https://openalex.org/I170632171"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103408219","display_name":"Wei Yu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei Yu","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018127934","display_name":"Blake C. Ballif","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]},{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Blake C Ballif","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","Health Research and Education Center, Washington State University, Spokane, WA, USA","Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA","Health Research and Education Center, Washington State University, Spokane, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, USA","institution_ids":["https://openalex.org/I170632171"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002257425","display_name":"Caron D. Glotzbach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1282676378","display_name":"Providence Sacred Heart Medical Center","ror":"https://ror.org/01wc5x922","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282676378","https://openalex.org/I94396219"]},{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Caron D Glotzbach","raw_affiliation_strings":["Health Research and Education Center, Washington State University, Spokane, WA, USA","Sacred Heart Medical Center, Spokane, WA, USA","Health Research and Education Center, Washington State University, Spokane, USA","Sacred Heart Medical Center, Spokane, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, WA, USA","institution_ids":["https://openalex.org/I1282676378"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, USA","institution_ids":["https://openalex.org/I1282676378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001395631","display_name":"Kristen A. Bailey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1282676378","display_name":"Providence Sacred Heart Medical Center","ror":"https://ror.org/01wc5x922","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282676378","https://openalex.org/I94396219"]},{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kristen A Bailey","raw_affiliation_strings":["Health Research and Education Center, Washington State University, Spokane, WA, USA","Sacred Heart Medical Center, Spokane, WA, USA","Health Research and Education Center, Washington State University, Spokane, USA","Sacred Heart Medical Center, Spokane, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, WA, USA","institution_ids":["https://openalex.org/I1282676378"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, USA","institution_ids":["https://openalex.org/I1282676378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072387201","display_name":"Chad A. Shaw","orcid":"https://orcid.org/0000-0001-7267-5398","observed_orcids":["https://orcid.org/0000-0001-7267-5398"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chad A Shaw","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031011585","display_name":"Catherine D. Kashork","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Catherine D Kashork","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030483051","display_name":"Heidi A. Heilstedt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heidi A Heilstedt","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine, Houston, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027770243","display_name":"David A Ansel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David A Ansel","raw_affiliation_strings":["Department of Medicine, Children's Hospital, Boston, MA, USA","Department of Medicine Children's Hospital, Boston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Department of Medicine Children's Hospital, Boston, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033133904","display_name":"Aaron P. Theisen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aaron Theisen","raw_affiliation_strings":["Health Research and Education Center, Washington State University, Spokane, WA, USA","Health Research and Education Center, Washington State University Spokane, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University Spokane, USA","institution_ids":["https://openalex.org/I170632171"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111696731","display_name":"Ritva Rice","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ritva Rice","raw_affiliation_strings":["Department of Craniofacial Development, King's College, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Craniofacial Development, King's College, London","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062441392","display_name":"David P. C. Rice","orcid":"https://orcid.org/0000-0001-9301-3078","observed_orcids":["https://orcid.org/0000-0001-9301-3078"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David P C Rice","raw_affiliation_strings":["Department of Craniofacial Development, King's College, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Craniofacial Development, King's College, London","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070769975","display_name":"Lisa G. Shaffer","orcid":"https://orcid.org/0000-0002-2848-8103","observed_orcids":["https://orcid.org/0000-0002-2848-8103"]},"institutions":[{"id":"https://openalex.org/I1282676378","display_name":"Providence Sacred Heart Medical Center","ror":"https://ror.org/01wc5x922","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282676378","https://openalex.org/I94396219"]},{"id":"https://openalex.org/I170632171","display_name":"Washington State University Spokane","ror":"https://ror.org/04vfs5h36","country_code":"US","type":"education","lineage":["https://openalex.org/I170632171","https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Lisa G Shaffer","raw_affiliation_strings":["Health Research and Education Center, Washington State University, Spokane, WA, USA","Sacred Heart Medical Center, Spokane, WA, USA","Health Research and Education Center, Washington State University, Spokane, USA","Sacred Heart Medical Center, Spokane, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, WA, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, WA, USA","institution_ids":["https://openalex.org/I1282676378"]},{"raw_affiliation_string":"Health Research and Education Center, Washington State University, Spokane, USA","institution_ids":["https://openalex.org/I170632171"]},{"raw_affiliation_string":"Sacred Heart Medical Center, Spokane, USA","institution_ids":["https://openalex.org/I1282676378"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5070769975"],"corresponding_institution_ids":["https://openalex.org/I1282676378","https://openalex.org/I170632171"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":2.4794,"has_fulltext":true,"cited_by_count":148,"citation_normalized_percentile":{"value":0.88417055,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"13","issue":"2","first_page":"139","last_page":"149"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9682999849319458,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9682999849319458,"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.021400000900030136,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.004600000102072954,"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/1p36-deletion-syndrome","display_name":"1p36 deletion syndrome","score":0.7509999871253967},{"id":"https://openalex.org/keywords/dosage-imbalance","display_name":"dosage imbalance","score":0.675000011920929},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.8619999885559082},{"id":"https://openalex.org/keywords/cranial-suture-closure","display_name":"cranial suture closure","score":0.859000027179718},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8960000276565552},{"id":"https://openalex.org/keywords/gene-overexpression","display_name":"gene overexpression","score":0.8119999766349792},{"id":"https://openalex.org/keywords/breakage-fusion-bridge-cycles","display_name":"breakage-fusion-bridge cycles","score":0.949999988079071},{"id":"https://openalex.org/keywords/chromosomal-inversions","display_name":"chromosomal inversions","score":0.7400000095367432},{"id":"https://openalex.org/keywords/triplication","display_name":"triplication","score":0.4950000047683716},{"id":"https://openalex.org/keywords/duplication","display_name":"duplication","score":0.46299999952316284}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8431698679924011},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.7368488907814026},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7045074701309204},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.5541559457778931},{"id":"https://openalex.org/C86546924","wikidata":"https://www.wikidata.org/wiki/Q3454460","display_name":"Chromosomal rearrangement","level":5,"score":0.5444700121879578},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5098482966423035},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5005223751068115},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.46081772446632385},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.4359273314476013},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3545834422111511},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.2403620481491089},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.1834947168827057}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002878","descriptor_name":"Chromosomes, Human, Pair 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003393","descriptor_name":"Cranial Sutures","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D003393","descriptor_name":"Cranial Sutures","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","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":"D007446","descriptor_name":"Chromosome Inversion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019457","descriptor_name":"Chromosome Breakage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/sj.ejhg.5201302","doi":"https://doi.org/10.1038/sj.ejhg.5201302","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5201302","pdf_url":null,"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:15483646","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15483646","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:kclpure.kcl.ac.uk:publications/3016829c-b394-44dc-9078-4bd28028bb30","doi":null,"is_oa":false,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/3016829c-b394-44dc-9078-4bd28028bb30","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Gajecka, M, Yu, W, Ballif, B C, Glotzbach, C D, Bailey, K A, Shaw, C A, Kashork, C D, Heilstedt, H A, Ansel, D A, Theisen, A, Rice, R, Rice, D P C & Shaffer, L G 2005, 'Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure', European Journal of Human Genetics, vol. 13, no. 2, pp. 139 - 149. https://doi.org/10.1038/sj.ejhg.5201302","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.5683000087738037}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G149034192","display_name":"MAPPING AND IDENTIFICATION OF DEAFNESS LOCI TO LP36.3","funder_award_id":"K08DC000169","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G4359412337","display_name":"Chromosome Rearrangements and Mental Retardation","funder_award_id":"P01HD039420","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/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"},{"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":70,"referenced_works":["https://openalex.org/W79110668","https://openalex.org/W1484187172","https://openalex.org/W1488591768","https://openalex.org/W1494999169","https://openalex.org/W1506836988","https://openalex.org/W1518778430","https://openalex.org/W1536818957","https://openalex.org/W1576976592","https://openalex.org/W1594803476","https://openalex.org/W1829553711","https://openalex.org/W1894541755","https://openalex.org/W1966676832","https://openalex.org/W1971591733","https://openalex.org/W1973930774","https://openalex.org/W1974087698","https://openalex.org/W1975411848","https://openalex.org/W1977123813","https://openalex.org/W1977172248","https://openalex.org/W1979211181","https://openalex.org/W1979393811","https://openalex.org/W1980337975","https://openalex.org/W1984968028","https://openalex.org/W1987634654","https://openalex.org/W1989215764","https://openalex.org/W1992752077","https://openalex.org/W1994238431","https://openalex.org/W2001985026","https://openalex.org/W2002935707","https://openalex.org/W2003692281","https://openalex.org/W2006615448","https://openalex.org/W2010958487","https://openalex.org/W2018974226","https://openalex.org/W2023653272","https://openalex.org/W2027023100","https://openalex.org/W2034157816","https://openalex.org/W2035673321","https://openalex.org/W2054929668","https://openalex.org/W2058734213","https://openalex.org/W2062072660","https://openalex.org/W2062746203","https://openalex.org/W2068752797","https://openalex.org/W2069160510","https://openalex.org/W2075091167","https://openalex.org/W2083248381","https://openalex.org/W2084576106","https://openalex.org/W2085256528","https://openalex.org/W2091112155","https://openalex.org/W2106982327","https://openalex.org/W2112670843","https://openalex.org/W2118555914","https://openalex.org/W2122900472","https://openalex.org/W2125277337","https://openalex.org/W2127540366","https://openalex.org/W2128649230","https://openalex.org/W2131596407","https://openalex.org/W2135587043","https://openalex.org/W2136109301","https://openalex.org/W2149422445","https://openalex.org/W2151974707","https://openalex.org/W2152634416","https://openalex.org/W2154401382","https://openalex.org/W2154716503","https://openalex.org/W2156197747","https://openalex.org/W2169581180","https://openalex.org/W2170516128","https://openalex.org/W2170828133","https://openalex.org/W2172052297","https://openalex.org/W2316665143","https://openalex.org/W4229510242","https://openalex.org/W6837106469"],"related_works":["https://openalex.org/W2154589518","https://openalex.org/W2143058679","https://openalex.org/W2207377644","https://openalex.org/W2133097247","https://openalex.org/W2105459846","https://openalex.org/W2552498420","https://openalex.org/W2098419019","https://openalex.org/W2160237104","https://openalex.org/W3174316544","https://openalex.org/W2063350943"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":33},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
