{"id":"https://openalex.org/W2739706641","doi":"https://doi.org/10.1002/ijc.30907","title":"The prevalence of DICER1 pathogenic variation in population databases","display_name":"The prevalence of DICER1 pathogenic variation in population databases","publication_year":2017,"publication_date":"2017-07-27","ids":{"openalex":"https://openalex.org/W2739706641","doi":"https://doi.org/10.1002/ijc.30907","mag":"2739706641","pmid":"https://pubmed.ncbi.nlm.nih.gov/28748527","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5749397"},"language":"en","primary_location":{"id":"doi:10.1002/ijc.30907","doi":"https://doi.org/10.1002/ijc.30907","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ijc.30907","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.30907","source":{"id":"https://openalex.org/S5382288","display_name":"International Journal of Cancer","issn_l":"0020-7136","issn":["0020-7136","1097-0215"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Cancer","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.30907","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100608891","display_name":"Jung Kim","orcid":"https://orcid.org/0000-0001-6274-2841","observed_orcids":["https://orcid.org/0000-0001-6274-2841"]},"institutions":[{"id":"https://openalex.org/I4391012607","display_name":"Division of Cancer Epidemiology and Genetics","ror":"https://ror.org/00vkwep27","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jung Kim","raw_affiliation_strings":["Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD"],"raw_orcid":"https://orcid.org/0000-0001-6274-2841","affiliations":[{"raw_affiliation_string":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD","institution_ids":["https://openalex.org/I4391012607"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064089120","display_name":"Amanda P. Field","orcid":"https://orcid.org/0000-0002-8193-1506","observed_orcids":["https://orcid.org/0000-0002-8193-1506"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Amanda Field","raw_affiliation_strings":["Division of Pathology and Center for Genetic Medicine Research, Children's National Health System, Washington, DC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pathology and Center for Genetic Medicine Research, Children's National Health System, Washington, DC","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047971782","display_name":"Kris Ann P. Schultz","orcid":"https://orcid.org/0000-0002-1788-5832","observed_orcids":["https://orcid.org/0000-0002-1788-5832"]},"institutions":[{"id":"https://openalex.org/I4210132437","display_name":"Children's Minnesota","ror":"https://ror.org/03d543283","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210132437"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kris Ann P. Schultz","raw_affiliation_strings":["Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN","International Ovarian and Testicular Stromal Tumor Registry, Minneapolis, MN","International Pleuropulmonary Blastoma Registry, Minneapolis, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN","institution_ids":["https://openalex.org/I4210132437"]},{"raw_affiliation_string":"International Ovarian and Testicular Stromal Tumor Registry, Minneapolis, MN","institution_ids":[]},{"raw_affiliation_string":"International Pleuropulmonary Blastoma Registry, Minneapolis, MN","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039374050","display_name":"Dana Ashley Hill","orcid":"https://orcid.org/0000-0003-1067-3922","observed_orcids":["https://orcid.org/0000-0003-1067-3922"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]},{"id":"https://openalex.org/I193531525","display_name":"George Washington University","ror":"https://ror.org/00y4zzh67","country_code":"US","type":"education","lineage":["https://openalex.org/I193531525"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Ashley Hill","raw_affiliation_strings":["Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC","Division of Pathology and Center for Genetic Medicine Research, Children's National Health System, Washington, DC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC","institution_ids":["https://openalex.org/I193531525"]},{"raw_affiliation_string":"Division of Pathology and Center for Genetic Medicine Research, Children's National Health System, Washington, DC","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061602052","display_name":"Douglas R. Stewart","orcid":"https://orcid.org/0000-0001-8193-1488","observed_orcids":["https://orcid.org/0000-0001-8193-1488"]},"institutions":[{"id":"https://openalex.org/I4391012607","display_name":"Division of Cancer Epidemiology and Genetics","ror":"https://ror.org/00vkwep27","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Douglas R. Stewart","raw_affiliation_strings":["Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD","institution_ids":["https://openalex.org/I4391012607"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5061602052"],"corresponding_institution_ids":["https://openalex.org/I4391012607"],"apc_list":{"value":5030,"currency":"USD","value_usd":5030},"apc_paid":{"value":5030,"currency":"USD","value_usd":5030},"fwci":6.699,"has_fulltext":true,"cited_by_count":94,"citation_normalized_percentile":{"value":0.97533694,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"141","issue":"10","first_page":"2030","last_page":"2036"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9804999828338623,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9804999828338623,"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/T11586","display_name":"Congenital Diaphragmatic Hernia Studies","score":0.01119999960064888,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/dicer1","display_name":"DICER1","score":0.890999972820282},{"id":"https://openalex.org/keywords/dicer1-syndrome","display_name":"DICER1 syndrome","score":0.9760000109672546},{"id":"https://openalex.org/keywords/germline-pathogenic-variants","display_name":"germline pathogenic variants","score":0.847000002861023},{"id":"https://openalex.org/keywords/variant-prevalence","display_name":"variant prevalence","score":0.875},{"id":"https://openalex.org/keywords/pleuropulmonary-blastoma","display_name":"pleuropulmonary blastoma","score":0.9319999814033508},{"id":"https://openalex.org/keywords/cystic-nephroma","display_name":"cystic nephroma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/sertoli-leydig-cell-tumor","display_name":"Sertoli-Leydig cell tumor","score":0.9990000128746033},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7950000166893005},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7739999890327454},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.5350000262260437},{"id":"https://openalex.org/keywords/exome-aggregation-consortium","display_name":"ExAC","score":0.8259999752044678},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.8489999771118164}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7954873442649841},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6898139119148254},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.5710386037826538},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.549578070640564},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5201554894447327},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49451205134391785},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.4909413158893585},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.4503348469734192},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.34667912125587463},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32682618498802185},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22257933020591736},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.12324529886245728},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11745727062225342},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11663070321083069},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.06054326891899109},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014481","descriptor_name":"United States","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015415","descriptor_name":"Biomarkers","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018202","descriptor_name":"Pulmonary Blastoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018202","descriptor_name":"Pulmonary Blastoma","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D018310","descriptor_name":"Sertoli-Leydig Cell Tumor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018310","descriptor_name":"Sertoli-Leydig Cell Tumor","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D043244","descriptor_name":"Ribonuclease III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D053487","descriptor_name":"DEAD-box RNA Helicases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055088","descriptor_name":"Early Detection of Cancer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/ijc.30907","doi":"https://doi.org/10.1002/ijc.30907","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ijc.30907","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.30907","source":{"id":"https://openalex.org/S5382288","display_name":"International Journal of Cancer","issn_l":"0020-7136","issn":["0020-7136","1097-0215"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Cancer","raw_type":"journal-article"},{"id":"pmid:28748527","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28748527","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":"International journal of cancer","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:5179116","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC5749397","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5749397","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5749397","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":"Int J Cancer","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1002/ijc.30907","doi":"https://doi.org/10.1002/ijc.30907","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ijc.30907","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.30907","source":{"id":"https://openalex.org/S5382288","display_name":"International Journal of Cancer","issn_l":"0020-7136","issn":["0020-7136","1097-0215"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Cancer","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9940000176429749}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3935160136","display_name":"DICER1 and the Pleuropulmonary Blastoma Family Cancer Syndrome","funder_award_id":"R01CA143167","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G5111462549","display_name":null,"funder_award_id":"HHSN261201300003C","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5256243594","display_name":null,"funder_award_id":"HHSN261201300003C","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G6374948078","display_name":null,"funder_award_id":"Z99 CA999999","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2739706641.pdf","grobid_xml":"https://content.openalex.org/works/W2739706641.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W29035954","https://openalex.org/W1487815750","https://openalex.org/W1578990729","https://openalex.org/W1786568331","https://openalex.org/W1938362079","https://openalex.org/W1948079023","https://openalex.org/W1973198827","https://openalex.org/W1974290681","https://openalex.org/W1984068087","https://openalex.org/W1987571337","https://openalex.org/W1989395650","https://openalex.org/W1997863242","https://openalex.org/W2003316240","https://openalex.org/W2013607072","https://openalex.org/W2020231706","https://openalex.org/W2032989977","https://openalex.org/W2036220202","https://openalex.org/W2039327271","https://openalex.org/W2051978340","https://openalex.org/W2099293835","https://openalex.org/W2103131923","https://openalex.org/W2104549677","https://openalex.org/W2106578986","https://openalex.org/W2112513520","https://openalex.org/W2117991391","https://openalex.org/W2127270403","https://openalex.org/W2130781239","https://openalex.org/W2134465438","https://openalex.org/W2149243178","https://openalex.org/W2160995259","https://openalex.org/W2161289154","https://openalex.org/W2161659256","https://openalex.org/W2187927065","https://openalex.org/W2237399873","https://openalex.org/W2256016639","https://openalex.org/W2263174193","https://openalex.org/W2481567962","https://openalex.org/W2520680951","https://openalex.org/W2521967673","https://openalex.org/W2610547404","https://openalex.org/W2783888568","https://openalex.org/W3015466050"],"related_works":["https://openalex.org/W2885097695","https://openalex.org/W2913691182","https://openalex.org/W4394724936","https://openalex.org/W2947043382","https://openalex.org/W4281823188","https://openalex.org/W3129400412","https://openalex.org/W4407641071","https://openalex.org/W2962909860","https://openalex.org/W7215066744","https://openalex.org/W7203543130"],"abstract_inverted_index":{"The":[0,26,75,110],"DICER1":[1,32,68,113,155,159],"syndrome":[2,156],"is":[3,38,161],"associated":[4],"with":[5,87],"a":[6,146],"variety":[7],"of":[8,30,66,112,148,153],"rare":[9],"benign":[10,99],"and":[11,21,28,57,89,91,127,138,180],"malignant":[12],"tumors,":[13,157],"including":[14],"pleuropulmonary":[15],"blastoma":[16],"(PPB),":[17],"cystic":[18],"nephroma":[19],"(CN)":[20],"Sertoli-Leydig":[22],"cell":[23],"tumor":[24],"(SLCT).":[25],"prevalence":[27,111,133,147],"penetrance":[29],"pathogenic":[31,67,105,108,140,158],"variation":[33,69,160],"in":[34,120,143,182],"the":[35,58,151],"general":[36],"population":[37],"unknown.":[39],"We":[40],"examined":[41],"three":[42],"publicly-available":[43],"germline":[44],"whole":[45],"exome":[46],"sequence":[47],"datasets:":[48],"Exome":[49,59],"Aggregation":[50],"Consortium":[51],"(ExAC),":[52],"1,000":[53],"Genomes":[54],"(1,000":[55],"G)":[56],"Sequencing":[60],"Project":[61],"(ESP).":[62],"To":[63],"avoid":[64],"over-estimation":[65],"from":[70,81],"cancer-associated":[71],"exomes,":[72],"we":[73],"excluded":[74],"Cancer":[76],"Genome":[77],"Atlas":[78],"(TCGA)":[79],"variants":[80,92,115,141],"ExAC.":[82],"All":[83],"datasets":[84],"were":[85,93],"annotated":[86],"snpEff":[88],"ANNOVAR":[90],"classified":[94],"into":[95],"four":[96],"categories:":[97],"likely":[98,104],"(LB),":[100],"unknown":[101],"significance":[102],"(VUS),":[103],"(LP),":[106],"or":[107],"(P).":[109],"P/LP":[114],"was":[116],"1:870":[117],"to":[118],"1:2,529":[119],"ExAC-nonTCGA":[121],"(53,105":[122],"exomes)":[123],"estimated":[124],"by":[125],"metaSVM":[126],"REVEL/CADD,":[128],"respectively.":[129],"A":[130],"more":[131,162],"stringent":[132],"calculation":[134],"considering":[135],"only":[136],"loss-of-function":[137],"previously-published":[139],"detected":[142],"ExAC-nonTCGA,":[144],"yielded":[145],"1:10,600.":[149],"Despite":[150],"rarity":[152],"most":[154],"common":[163],"than":[164],"expected.":[165],"If":[166],"confirmed,":[167],"these":[168],"findings":[169],"may":[170],"inform":[171],"future":[172],"sequencing-based":[173],"newborn":[174],"screening":[175],"programs":[176],"for":[177],"PPB,":[178],"CN":[179],"SLCT,":[181],"which":[183],"early":[184],"detection":[185],"improves":[186],"prognosis.":[187]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":12},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":15},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-08-08T00:00:00"}