{"id":"https://openalex.org/W1996394440","doi":"https://doi.org/10.1038/labinvest.3780256","title":"Cryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies","display_name":"Cryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies","publication_year":2001,"publication_date":"2001-04-01","ids":{"openalex":"https://openalex.org/W1996394440","doi":"https://doi.org/10.1038/labinvest.3780256","mag":"1996394440","pmid":"https://pubmed.ncbi.nlm.nih.gov/11304567"},"language":"en","primary_location":{"id":"doi:10.1038/labinvest.3780256","doi":"https://doi.org/10.1038/labinvest.3780256","is_oa":true,"landing_page_url":"https://doi.org/10.1038/labinvest.3780256","pdf_url":"https://www.nature.com/articles/3780256.pdf","source":{"id":"https://openalex.org/S137146891","display_name":"Laboratory Investigation","issn_l":"0023-6837","issn":["0023-6837","1530-0307"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Laboratory Investigation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/3780256.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021474346","display_name":"Octavian Henegariu","orcid":"https://orcid.org/0000-0002-8971-1049","observed_orcids":["https://orcid.org/0000-0002-8971-1049"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Octavian Henegariu","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA. octavian.henegariu@yale.edu","Yale University  ;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA. octavian.henegariu@yale.edu","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Yale University  ;","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032274461","display_name":"Sevilhan Artan","orcid":"https://orcid.org/0000-0001-7658-6309","observed_orcids":["https://orcid.org/0000-0001-7658-6309"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sevilhan Artan","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","Yale University  ;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Yale University  ;","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048839844","display_name":"John M. Greally","orcid":"https://orcid.org/0000-0001-6069-7960","observed_orcids":["https://orcid.org/0000-0001-6069-7960"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John M Greally","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","Yale University  ;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Yale University  ;","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111604855","display_name":"Xiao\u2013Ning Chen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1282927834","display_name":"Cedars-Sinai Medical Center","ror":"https://ror.org/02pammg90","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282927834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiao-Ning Chen","raw_affiliation_strings":["Departments of Pediatrics and Human Genetics, Cedars-Sinai Medical Center, Los Angeles, California","Cedars\u2013Sinai Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Human Genetics, Cedars-Sinai Medical Center, Los Angeles, California","institution_ids":["https://openalex.org/I1282927834"]},{"raw_affiliation_string":"Cedars\u2013Sinai Medical Center","institution_ids":["https://openalex.org/I1282927834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033322421","display_name":"Julie R. Korenberg","orcid":"https://orcid.org/0000-0001-5264-9109","observed_orcids":["https://orcid.org/0000-0001-5264-9109"]},"institutions":[{"id":"https://openalex.org/I1282927834","display_name":"Cedars-Sinai Medical Center","ror":"https://ror.org/02pammg90","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282927834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie R Korenberg","raw_affiliation_strings":["Departments of Pediatrics and Human Genetics, Cedars-Sinai Medical Center, Los Angeles, California","Cedars\u2013Sinai Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Human Genetics, Cedars-Sinai Medical Center, Los Angeles, California","institution_ids":["https://openalex.org/I1282927834"]},{"raw_affiliation_string":"Cedars\u2013Sinai Medical Center","institution_ids":["https://openalex.org/I1282927834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086286601","display_name":"Gail H. Vance","orcid":"https://orcid.org/0000-0002-7424-2921","observed_orcids":["https://orcid.org/0000-0002-7424-2921"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gail H Vance","raw_affiliation_strings":["Department of Medical Genetics, Indiana University, Indianapolis, Indiana","Indiana Univ.-Purdue Univ. Indianapolis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Indiana University, Indianapolis, Indiana","institution_ids":["https://openalex.org/I4388446366"]},{"raw_affiliation_string":"Indiana Univ.-Purdue Univ. Indianapolis","institution_ids":["https://openalex.org/I55769427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082905763","display_name":"Lisa J. Stubbs","orcid":"https://orcid.org/0000-0002-9556-1972","observed_orcids":["https://orcid.org/0000-0002-9556-1972"]},"institutions":[{"id":"https://openalex.org/I1282311441","display_name":"Lawrence Livermore National Laboratory","ror":"https://ror.org/041nk4h53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1282311441","https://openalex.org/I1330989302","https://openalex.org/I198811213","https://openalex.org/I4210138311"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa Stubbs","raw_affiliation_strings":["Lawrence Livermore National Laboratory, Livermore, California","Lawrence Livermore National Laboratory"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lawrence Livermore National Laboratory, Livermore, California","institution_ids":["https://openalex.org/I1282311441"]},{"raw_affiliation_string":"Lawrence Livermore National Laboratory","institution_ids":["https://openalex.org/I1282311441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111618522","display_name":"Patricia Bray\u2010Ward","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patricia Bray-Ward","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","Yale University  ;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Yale University  ;","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102984796","display_name":"David C. Ward","orcid":"https://orcid.org/0000-0003-2380-4813","observed_orcids":["https://orcid.org/0000-0003-2380-4813","https://orcid.org/0000-0002-2705-408X"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David C Ward","raw_affiliation_strings":["Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","Yale University  ;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Yale University  ;","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5021474346"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":{"value":4480,"currency":"USD","value_usd":4480},"apc_paid":null,"fwci":2.9084,"has_fulltext":true,"cited_by_count":30,"citation_normalized_percentile":{"value":0.90768788,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"81","issue":"4","first_page":"483","last_page":"491"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9970999956130981,"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":0.9970999956130981,"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":0.0007999999797903001,"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/T10434","display_name":"Chromosomal and Genetic Variations","score":0.0005000000237487257,"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/cryptic-translocation","display_name":"cryptic translocation","score":0.9430000185966492},{"id":"https://openalex.org/keywords/subtelomeric-regions","display_name":"subtelomeric regions","score":0.8600000143051147},{"id":"https://openalex.org/keywords/idiopathic-intellectual-disability","display_name":"idiopathic intellectual disability","score":0.7110000252723694},{"id":"https://openalex.org/keywords/chromosomal-rearrangements","display_name":"chromosomal rearrangements","score":0.6539999842643738},{"id":"https://openalex.org/keywords/subtelomeric-probes","display_name":"subtelomeric probes","score":0.7900000214576721},{"id":"https://openalex.org/keywords/mouse-chromosomes","display_name":"mouse chromosomes","score":0.6060000061988831},{"id":"https://openalex.org/keywords/bac-probes","display_name":"BAC probes","score":0.8889999985694885}],"concepts":[{"id":"https://openalex.org/C2909208804","wikidata":"https://www.wikidata.org/wiki/Q127282","display_name":"Fish <Actinopterygii>","level":2,"score":0.8113596439361572},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.7992774248123169},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6476584672927856},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6436684131622314},{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.6174567341804504},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5074889063835144},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46280378103256226},{"id":"https://openalex.org/C177336024","wikidata":"https://www.wikidata.org/wiki/Q14872779","display_name":"Telomere","level":3,"score":0.4374719262123108},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.33175116777420044},{"id":"https://openalex.org/C90856448","wikidata":"https://www.wikidata.org/wiki/Q431","display_name":"Zoology","level":1,"score":0.325441837310791},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2710566520690918},{"id":"https://openalex.org/C505870484","wikidata":"https://www.wikidata.org/wiki/Q180538","display_name":"Fishery","level":1,"score":0.23680859804153442},{"id":"https://openalex.org/C18903297","wikidata":"https://www.wikidata.org/wiki/Q7150","display_name":"Ecology","level":1,"score":0.09863969683647156}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002877","descriptor_name":"Chromosomes, Human","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D003116","descriptor_name":"Color","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005456","descriptor_name":"Fluorescent Dyes","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007091","descriptor_name":"Image Processing, Computer-Assisted","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/labinvest.3780256","doi":"https://doi.org/10.1038/labinvest.3780256","is_oa":true,"landing_page_url":"https://doi.org/10.1038/labinvest.3780256","pdf_url":"https://www.nature.com/articles/3780256.pdf","source":{"id":"https://openalex.org/S137146891","display_name":"Laboratory Investigation","issn_l":"0023-6837","issn":["0023-6837","1530-0307"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Laboratory Investigation","raw_type":"journal-article"},{"id":"pmid:11304567","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11304567","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":"Laboratory investigation; a journal of technical methods and pathology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/labinvest.3780256","doi":"https://doi.org/10.1038/labinvest.3780256","is_oa":true,"landing_page_url":"https://doi.org/10.1038/labinvest.3780256","pdf_url":"https://www.nature.com/articles/3780256.pdf","source":{"id":"https://openalex.org/S137146891","display_name":"Laboratory Investigation","issn_l":"0023-6837","issn":["0023-6837","1530-0307"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Laboratory Investigation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.4000000059604645,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1996394440.pdf","grobid_xml":"https://content.openalex.org/works/W1996394440.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W1505591375","https://openalex.org/W1596143252","https://openalex.org/W1964571709","https://openalex.org/W1965250519","https://openalex.org/W1965684736","https://openalex.org/W1978269204","https://openalex.org/W1984731778","https://openalex.org/W1986885179","https://openalex.org/W2031480819","https://openalex.org/W2037479635","https://openalex.org/W2060132905","https://openalex.org/W2075206831","https://openalex.org/W2102584529","https://openalex.org/W2103951922","https://openalex.org/W2107601960","https://openalex.org/W2117297458","https://openalex.org/W2124547379","https://openalex.org/W2164702700","https://openalex.org/W2316665143","https://openalex.org/W2626438370","https://openalex.org/W4254219602"],"related_works":["https://openalex.org/W4239580507","https://openalex.org/W1968257833","https://openalex.org/W1574943058","https://openalex.org/W2103140470","https://openalex.org/W4254219602","https://openalex.org/W1965250519","https://openalex.org/W7140244546","https://openalex.org/W271509809","https://openalex.org/W2092517646","https://openalex.org/W2747526307"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}