{"id":"https://openalex.org/W2120463449","doi":null,"title":"Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.","display_name":"Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2120463449","mag":"2120463449","pmid":"https://pubmed.ncbi.nlm.nih.gov/24791139","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4000713"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:2986197","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4000713","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/articles/PMC4000713","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070210331","display_name":"Ming-yan He","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ming-yan He","raw_affiliation_strings":["Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101474301","display_name":"Yu An","orcid":"https://orcid.org/0000-0001-8051-8229","observed_orcids":["https://orcid.org/0000-0001-8051-8229"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yu An","raw_affiliation_strings":["Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I24943067"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046542691","display_name":"Yijin Gao","orcid":"https://orcid.org/0000-0002-7592-4115","observed_orcids":["https://orcid.org/0000-0002-7592-4115"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yi-jin Gao","raw_affiliation_strings":["Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020929077","display_name":"Xiaowen Qian","orcid":"https://orcid.org/0000-0002-0072-6632","observed_orcids":["https://orcid.org/0000-0002-0072-6632"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao-wen Qian","raw_affiliation_strings":["Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology and Oncology, Children's Hospital of Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100438657","display_name":"Gang Li","orcid":"https://orcid.org/0000-0001-9805-4354","observed_orcids":["https://orcid.org/0000-0001-9805-4354"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Gang Li","raw_affiliation_strings":["Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I24943067"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019647711","display_name":"Jiang Qian","orcid":"https://orcid.org/0000-0002-4287-3497","observed_orcids":["https://orcid.org/0000-0002-4287-3497"]},"institutions":[{"id":"https://openalex.org/I4210112065","display_name":"Eye & ENT Hospital of Fudan University","ror":"https://ror.org/02wc1yz29","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210112065"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiang Qian","raw_affiliation_strings":["Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I4210112065"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.5882,"has_fulltext":false,"cited_by_count":38,"citation_normalized_percentile":{"value":0.87354503,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"20","issue":null,"first_page":"545","last_page":"52"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11328","display_name":"Ocular Oncology and Treatments","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11328","display_name":"Ocular Oncology and Treatments","score":0.9940999746322632,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.00279999990016222,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinoblastoma","display_name":"retinoblastoma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/rb1-gene","display_name":"RB1 gene","score":0.8360000252723694},{"id":"https://openalex.org/keywords/constitutional-mutation","display_name":"constitutional mutation","score":0.7319999933242798},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9829999804496765},{"id":"https://openalex.org/keywords/bilateral-retinoblastoma","display_name":"bilateral retinoblastoma","score":0.8920000195503235},{"id":"https://openalex.org/keywords/null-mutations","display_name":"null mutations","score":0.8659999966621399},{"id":"https://openalex.org/keywords/in-frame-mutations","display_name":"in-frame mutations","score":0.9909999966621399},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5199999809265137},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7369999885559082},{"id":"https://openalex.org/keywords/age-at-diagnosis","display_name":"age at diagnosis","score":0.6439999938011169},{"id":"https://openalex.org/keywords/tumor-laterality","display_name":"tumor laterality","score":0.8700000047683716},{"id":"https://openalex.org/keywords/tumor-staging","display_name":"tumor staging","score":0.7609999775886536},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.7850000262260437},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.5370000004768372}],"concepts":[{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.9070279598236084},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7457229495048523},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.68781578540802},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6514245867729187},{"id":"https://openalex.org/C2776577112","wikidata":"https://www.wikidata.org/wiki/Q500695","display_name":"Retinoblastoma","level":3,"score":0.6076299548149109},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5424644947052002},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4802441895008087},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4772900640964508},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3748132884502411},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3515440821647644},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.25086724758148193}],"mesh":[{"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":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012175","descriptor_name":"Retinoblastoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016160","descriptor_name":"Retinoblastoma Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:2986197","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4000713","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:24791139","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24791139","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":"Molecular vision","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4000713","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4000713/","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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"mag:2120463449","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24791139","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2986197","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4000713","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W84974169","https://openalex.org/W1966269548","https://openalex.org/W1980921343","https://openalex.org/W1984536924","https://openalex.org/W1988906182","https://openalex.org/W2015087800","https://openalex.org/W2017429261","https://openalex.org/W2035203629","https://openalex.org/W2041597883","https://openalex.org/W2043930235","https://openalex.org/W2050259067","https://openalex.org/W2068299048","https://openalex.org/W2071193398","https://openalex.org/W2077858999","https://openalex.org/W2082826505","https://openalex.org/W2089155477","https://openalex.org/W2099742439","https://openalex.org/W2109276727","https://openalex.org/W2117402371","https://openalex.org/W2145894718","https://openalex.org/W2160453804","https://openalex.org/W2162139554","https://openalex.org/W2167564136","https://openalex.org/W2198481715","https://openalex.org/W2297011807","https://openalex.org/W2359907128","https://openalex.org/W2360841176","https://openalex.org/W2395623505","https://openalex.org/W2409790794","https://openalex.org/W2419422156"],"related_works":["https://openalex.org/W2285111985","https://openalex.org/W2315726697","https://openalex.org/W3012172911","https://openalex.org/W2621244404","https://openalex.org/W4285447482","https://openalex.org/W2777053786","https://openalex.org/W2395623505","https://openalex.org/W1528821889","https://openalex.org/W2091916337","https://openalex.org/W4293226899"],"abstract_inverted_index":{"PURPOSE:":[0],"Retinoblastoma":[1],"(RB)":[2],"sets":[3],"the":[4,18,31,116,143,178,191,223,243,254,260,275,285],"paradigm":[5],"for":[6,10,84,187,268],"hereditary":[7],"cancer":[8],"syndromes,":[9],"which":[11,125],"medical":[12],"care":[13],"can":[14],"change":[15],"depending":[16],"on":[17],"results":[19,92,240],"of":[20,51,58,115,124,154,169,206,222,245,251,259,274,280,288],"genetic":[21],"testing.":[22],"In":[23],"this":[24,210],"study,":[25],"we":[26],"screened":[27],"constitutional":[28],"mutations":[29,109,145,205,215,234],"in":[30,112,136,209],"RB1":[32,207,276],"gene":[33],"via":[34],"a":[35,48,151,166,265],"method":[36,267],"combining":[37],"DNA":[38,72,75],"sequencing":[39,76,91,281],"and":[40,46,65,70,93,121,162,216,235,253,282],"multiplex":[41],"ligation-dependent":[42],"probe":[43],"amplification":[44],"(MLPA),":[45],"performed":[47],"preliminary":[49],"exploration":[50],"genotype-phenotype":[52],"correlations.":[53],"METHODS:":[54],"The":[55,132,278],"peripheral":[56],"blood":[57],"85":[59,117],"retinoblastoma":[60,261],"probands,":[61],"including":[62,212],"39":[63],"bilateral":[64,87,120,137,184,199],"46":[66],"unilateral,":[67],"was":[68,73,77,82,100,128,139],"collected,":[69],"genomic":[71],"extracted.":[74],"conducted":[78],"first.":[79],"MLPA":[80,263,283],"analysis":[81],"applied":[83],"patients":[85,231],"with":[86,89,150,165,181,194,232],"RB":[88,185],"negative":[90],"unilateral":[94],"probands":[95,118,149,180,193],"whose":[96],"age":[97,153,168,250],"at":[98,157,172],"diagnosis":[99,158,173,287],"less":[101],"than":[102],"1":[103],"year":[104],"old.":[105],"RESULTS:":[106],"Thirty-four":[107],"distinct":[108],"were":[110,202],"identified":[111,129,208],"40":[113],"(47.1%)":[114],"(36":[119],"four":[122],"unilateral),":[123],"20%":[126],"(8/40)":[127],"by":[130],"MLPA.":[131],"total":[133,144],"detection":[134],"rate":[135],"cases":[138],"92.3%":[140],"(36/39).":[141],"Of":[142,177,190],"identified,":[146],"77.5%":[147],"(31/40)":[148],"mean":[152,167],"10.7":[155],"months":[156,171],"had":[159,174,198],"null":[160,182,214,233],"mutations,":[161,183,196],"22.5%":[163],"(9/40)":[164],"13.5":[170],"in-frame":[175,195,236],"mutations.":[176,237],"31":[179],"accounted":[186],"96.8%":[188],"(30/31).":[189],"nine":[192],"66.7%":[197],"RB.":[200,289],"There":[201],"seven":[203],"new":[204],"report,":[211],"six":[213],"one":[217],"missense":[218],"mutation.":[219],"Clinical":[220],"staging":[221,258],"tumor":[224],"did":[225],"not":[226,257],"show":[227],"obvious":[228],"differences":[229],"between":[230],"CONCLUSIONS:":[238],"Our":[239],"confirm":[241],"that":[242],"type":[244],"mutation":[246],"is":[247,264],"related":[248],"to":[249],"onset":[252],"laterality,":[255],"but":[256],"tumor.":[262],"reliable":[266],"detecting":[269],"gross":[270],"deletion":[271],"or":[272],"duplication":[273],"gene.":[277],"combination":[279],"improves":[284],"clinical":[286]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}