{"id":"https://openalex.org/W4293229775","doi":"https://doi.org/10.1016/j.gim.2022.01.134","title":"eP097: The utility of CSF-derived cell free DNA in molecular diagnostics for the Megalencephaly-capillary Malformation (MCAP) syndrome: A case report","display_name":"eP097: The utility of CSF-derived cell free DNA in molecular diagnostics for the Megalencephaly-capillary Malformation (MCAP) syndrome: A case report","publication_year":2022,"publication_date":"2022-03-01","ids":{"openalex":"https://openalex.org/W4293229775","doi":"https://doi.org/10.1016/j.gim.2022.01.134"},"language":"en","primary_location":{"id":"doi:10.1016/j.gim.2022.01.134","doi":"https://doi.org/10.1016/j.gim.2022.01.134","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gim.2022.01.134","pdf_url":"http://www.gimjournal.org/article/S1098360022001514/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Genetics in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.gimjournal.org/article/S1098360022001514/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100692427","display_name":"Wei-Liang Chen","orcid":"https://orcid.org/0000-0002-9754-4113","observed_orcids":["https://orcid.org/0000-0002-9754-4113","https://orcid.org/0000-0003-0304-583X"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]},{"id":"https://openalex.org/I4405262941","display_name":"Seattle Children's Research Institute","ror":"https://ror.org/00cz0md82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534","https://openalex.org/I4405262941"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei-Liang Chen","raw_affiliation_strings":["Seattle Children's Hospital and Research Institute, University of Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Hospital and Research Institute, University of Washington","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701","https://openalex.org/I4405262941"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026759277","display_name":"Andrew E. Timms","orcid":"https://orcid.org/0000-0002-8808-4012","observed_orcids":["https://orcid.org/0000-0002-8808-4012"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Timms","raw_affiliation_strings":["Seattle Children's Hospital and Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Hospital and Research Institute","institution_ids":["https://openalex.org/I1295499534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061896269","display_name":"Emily C. Pao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405262941","display_name":"Seattle Children's Research Institute","ror":"https://ror.org/00cz0md82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534","https://openalex.org/I4405262941"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily Pao","raw_affiliation_strings":["Seattle Children's Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Research Institute","institution_ids":["https://openalex.org/I4405262941"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015143804","display_name":"James W. M. Owens","orcid":"https://orcid.org/0000-0003-2282-8637","observed_orcids":["https://orcid.org/0000-0003-2282-8637"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James Owens","raw_affiliation_strings":["Seattle Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Hospital","institution_ids":["https://openalex.org/I1295499534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078845326","display_name":"Ian A. Glass","orcid":"https://orcid.org/0000-0001-6762-8407","observed_orcids":["https://orcid.org/0000-0001-6762-8407"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ian Glass","raw_affiliation_strings":["Seattle Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Hospital","institution_ids":["https://openalex.org/I1295499534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075995542","display_name":"Brian H. Shirts","orcid":"https://orcid.org/0000-0002-7188-6764","observed_orcids":["https://orcid.org/0000-0002-7188-6764"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian Shirts","raw_affiliation_strings":["University of Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064385855","display_name":"Colin C. Pritchard","orcid":"https://orcid.org/0000-0002-2461-1557","observed_orcids":["https://orcid.org/0000-0002-2461-1557"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Colin Pritchard","raw_affiliation_strings":["University of Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037333519","display_name":"Christina M. Lockwood","orcid":"https://orcid.org/0000-0001-9036-7604","observed_orcids":["https://orcid.org/0000-0001-9036-7604"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christina Lockwood","raw_affiliation_strings":["University of Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090823515","display_name":"Ghayda Mirzaa","orcid":"https://orcid.org/0000-0003-2648-7657","observed_orcids":["https://orcid.org/0000-0003-2648-7657"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]},{"id":"https://openalex.org/I4405262941","display_name":"Seattle Children's Research Institute","ror":"https://ror.org/00cz0md82","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534","https://openalex.org/I4405262941"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ghayda Mirzaa","raw_affiliation_strings":["Seattle Children's Hospital and Research Institute, University of Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Seattle Children's Hospital and Research Institute, University of Washington","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701","https://openalex.org/I4405262941"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.1514,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.43648135,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"24","issue":"3","first_page":"S63","last_page":"S64"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.3190999925136566,"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":0.3190999925136566,"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/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.12890000641345978,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.09960000216960907,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/cell-free-dna","display_name":"cell-free DNA","score":0.7099999785423279},{"id":"https://openalex.org/keywords/cerebrospinal-fluid","display_name":"cerebrospinal fluid","score":0.9660000205039978},{"id":"https://openalex.org/keywords/pik3ca","display_name":"PIK3CA","score":0.8659999966621399},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.7089999914169312},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.5440000295639038},{"id":"https://openalex.org/keywords/malformations-of-cortical-development","display_name":"malformations of cortical development","score":0.7699999809265137},{"id":"https://openalex.org/keywords/epilepsy-surgery","display_name":"epilepsy surgery","score":0.640999972820282},{"id":"https://openalex.org/keywords/overgrowth-syndromes","display_name":"overgrowth syndromes","score":0.6050000190734863},{"id":"https://openalex.org/keywords/hemimegalencephaly","display_name":"hemimegalencephaly","score":0.8610000014305115}],"concepts":[{"id":"https://openalex.org/C2778234038","wikidata":"https://www.wikidata.org/wiki/Q10748814","display_name":"Megalencephaly","level":2,"score":0.9110541343688965},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6125620603561401},{"id":"https://openalex.org/C78221974","wikidata":"https://www.wikidata.org/wiki/Q18030425","display_name":"PDGFRB","level":3,"score":0.5987086296081543},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4767364263534546},{"id":"https://openalex.org/C2777507709","wikidata":"https://www.wikidata.org/wiki/Q121576","display_name":"Vascular malformation","level":2,"score":0.4501587450504303},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4329444468021393},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28268980979919434},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.2055167555809021},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14866122603416443},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09237560629844666},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.09046730399131775}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.gim.2022.01.134","doi":"https://doi.org/10.1016/j.gim.2022.01.134","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gim.2022.01.134","pdf_url":"http://www.gimjournal.org/article/S1098360022001514/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Genetics in Medicine","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.gim.2022.01.134","doi":"https://doi.org/10.1016/j.gim.2022.01.134","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gim.2022.01.134","pdf_url":"http://www.gimjournal.org/article/S1098360022001514/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"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":"Genetics in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7599999904632568,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4293229775.pdf","grobid_xml":"https://content.openalex.org/works/W4293229775.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3037594547","https://openalex.org/W3119267343","https://openalex.org/W2888449096","https://openalex.org/W3031944735","https://openalex.org/W4280532617","https://openalex.org/W4404413052","https://openalex.org/W4378907550","https://openalex.org/W1843231603","https://openalex.org/W2113033805","https://openalex.org/W2607426082"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-09T09:14:12.587421","created_date":"2022-08-27T00:00:00"}
