{"id":"https://openalex.org/W7123661563","doi":"https://doi.org/10.1016/j.cancergen.2025.10.045","title":"41. BRAF mutations blood and bone marrow samples of langerhans cell histiocytosis patients with CNS involvement","display_name":"41. BRAF mutations blood and bone marrow samples of langerhans cell histiocytosis patients with CNS involvement","publication_year":2025,"publication_date":"2025-12-01","ids":{"openalex":"https://openalex.org/W7123661563","doi":"https://doi.org/10.1016/j.cancergen.2025.10.045"},"language":"en","primary_location":{"id":"doi:10.1016/j.cancergen.2025.10.045","doi":"https://doi.org/10.1016/j.cancergen.2025.10.045","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cancergen.2025.10.045","pdf_url":null,"source":{"id":"https://openalex.org/S4210168666","display_name":"Cancer Genetics","issn_l":"2210-7762","issn":["2210-7762","2210-7770"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3"],"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":"Cancer Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5114272948","display_name":"Mokhtar H. Abdelhammed","orcid":"https://orcid.org/0009-0001-9607-683X","observed_orcids":["https://orcid.org/0009-0001-9607-683X"]},"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":"Mokhtar Abdelhammed","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078648308","display_name":"Olive S. Eckstein","orcid":"https://orcid.org/0000-0002-1895-8810","observed_orcids":["https://orcid.org/0000-0002-1895-8810"]},"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":"Olive Eckstein","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040552120","display_name":"Nader Kim El\u2010Mallawany","orcid":"https://orcid.org/0000-0001-6115-1046","observed_orcids":["https://orcid.org/0000-0001-6115-1046"]},"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":"Nader El-Mallawany","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039428296","display_name":"Nitya Gulati","orcid":"https://orcid.org/0000-0001-9243-9544","observed_orcids":["https://orcid.org/0000-0001-9243-9544"]},"institutions":[{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nitya Gulati","raw_affiliation_strings":["Weill Cornell Medical College, New York City, NY, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weill Cornell Medical College, New York City, NY, United States","institution_ids":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006499960","display_name":"Carl E. Allen","orcid":"https://orcid.org/0000-0002-6625-739X","observed_orcids":["https://orcid.org/0000-0002-6625-739X","https://orcid.org/0000-0002-2241-5712"]},"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":"Carl Allen","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006923130","display_name":"Kenneth L. McClain","orcid":"https://orcid.org/0000-0003-0725-6263","observed_orcids":["https://orcid.org/0000-0003-0725-6263"]},"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":"Kenneth McClain","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012883015","display_name":"Carrie Mohila","orcid":"https://orcid.org/0000-0002-0261-0406","observed_orcids":["https://orcid.org/0000-0002-0261-0406"]},"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":"Carrie Mohila","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065741141","display_name":"Angshumoy Roy","orcid":"https://orcid.org/0000-0001-7248-8576","observed_orcids":["https://orcid.org/0000-0001-7248-8576"]},"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":"Angshumoy Roy","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016664176","display_name":"Dolores H Lopez-Terrada","orcid":"https://orcid.org/0000-0002-6584-420X","observed_orcids":["https://orcid.org/0000-0002-6584-420X","https://orcid.org/0009-0004-9295-1969"]},"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":"Dolores Lopez-Terrada","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066607924","display_name":"Kevin E. Fisher","orcid":"https://orcid.org/0000-0002-6179-0937","observed_orcids":["https://orcid.org/0000-0002-6179-0937"]},"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":"Kevin Fisher","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, United States","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3320,"currency":"USD","value_usd":3320},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.52290176,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"298-299","issue":null,"first_page":"S18","last_page":"S19"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11909","display_name":"Histiocytic Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T11909","display_name":"Histiocytic Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/langerhans-cell-histiocytosis","display_name":"Langerhans cell histiocytosis","score":0.9710000157356262},{"id":"https://openalex.org/keywords/braf-v600e-mutation","display_name":"BRAF V600E mutation","score":0.9649999737739563},{"id":"https://openalex.org/keywords/central-nervous-system-involvement","display_name":"central nervous system involvement","score":0.8500000238418579},{"id":"https://openalex.org/keywords/circulating-tumor-dna","display_name":"circulating tumor DNA","score":0.9369999766349792},{"id":"https://openalex.org/keywords/peripheral-blood","display_name":"peripheral blood","score":0.6930000185966492},{"id":"https://openalex.org/keywords/bone-marrow","display_name":"bone marrow","score":0.996999979019165},{"id":"https://openalex.org/keywords/liquid-biopsy","display_name":"liquid biopsy","score":0.6309999823570251},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.6859999895095825},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.6129999756813049},{"id":"https://openalex.org/keywords/diabetes-insipidus","display_name":"diabetes insipidus","score":0.8769999742507935},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.9120000004768372},{"id":"https://openalex.org/keywords/multisystem-involvement","display_name":"multisystem involvement","score":0.4970000088214874},{"id":"https://openalex.org/keywords/real-time-pcr-quantification","display_name":"real-time PCR quantification","score":0.6200000047683716}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7685999870300293},{"id":"https://openalex.org/C2777484599","wikidata":"https://www.wikidata.org/wiki/Q374036","display_name":"Langerhans cell histiocytosis","level":3,"score":0.7674000263214111},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.623199999332428},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5835999846458435},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5113000273704529},{"id":"https://openalex.org/C2780174970","wikidata":"https://www.wikidata.org/wiki/Q1411740","display_name":"Histiocytosis","level":3,"score":0.5013999938964844},{"id":"https://openalex.org/C2776958162","wikidata":"https://www.wikidata.org/wiki/Q220551","display_name":"Diabetes insipidus","level":2,"score":0.4174000024795532},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.37299999594688416},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.31869998574256897},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.29919999837875366},{"id":"https://openalex.org/C2778379841","wikidata":"https://www.wikidata.org/wiki/Q1623344","display_name":"Langerhans cell","level":3,"score":0.2980000078678131},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2921999990940094},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.2904999852180481},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.27970001101493835},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.27570000290870667},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.27399998903274536},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.2619999945163727},{"id":"https://openalex.org/C2776470698","wikidata":"https://www.wikidata.org/wiki/Q21851559","display_name":"V600E","level":4,"score":0.25209999084472656},{"id":"https://openalex.org/C3017910909","wikidata":"https://www.wikidata.org/wiki/Q618363","display_name":"Peripheral blood","level":2,"score":0.2506999969482422}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.cancergen.2025.10.045","doi":"https://doi.org/10.1016/j.cancergen.2025.10.045","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cancergen.2025.10.045","pdf_url":null,"source":{"id":"https://openalex.org/S4210168666","display_name":"Cancer Genetics","issn_l":"2210-7762","issn":["2210-7762","2210-7770"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3"],"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":"Cancer Genetics","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.5821603536605835,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4285014030","https://openalex.org/W2983174023","https://openalex.org/W2074413670","https://openalex.org/W4220907222","https://openalex.org/W649889869","https://openalex.org/W2969657551","https://openalex.org/W4399443778","https://openalex.org/W2939276145","https://openalex.org/W2035001481","https://openalex.org/W4362505847"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2026-01-14T00:00:00"}
