{"id":"https://openalex.org/W2989700010","doi":"https://doi.org/10.3389/fneur.2019.01219","title":"Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations","display_name":"Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations","publication_year":2019,"publication_date":"2019-11-20","ids":{"openalex":"https://openalex.org/W2989700010","doi":"https://doi.org/10.3389/fneur.2019.01219","mag":"2989700010","pmid":"https://pubmed.ncbi.nlm.nih.gov/31824402","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6879547"},"language":"en","primary_location":{"id":"doi:10.3389/fneur.2019.01219","doi":"https://doi.org/10.3389/fneur.2019.01219","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.01219","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.01219/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.01219/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033787474","display_name":"Christiane D. Much","orcid":"https://orcid.org/0009-0003-5397-647X","observed_orcids":["https://orcid.org/0009-0003-5397-647X"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christiane D. Much","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045019313","display_name":"Konrad Schwefel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Konrad Schwefel","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029665921","display_name":"Dariush Skowronek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dariush Skowronek","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057825632","display_name":"Loay Shoubash","orcid":"https://orcid.org/0000-0002-0433-832X","observed_orcids":["https://orcid.org/0000-0002-0433-832X"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Loay Shoubash","raw_affiliation_strings":["Department of Neurosurgery, University Medicine Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, University Medicine Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012495517","display_name":"Felix von Podewils","orcid":"https://orcid.org/0000-0002-3134-8697","observed_orcids":["https://orcid.org/0000-0002-3134-8697"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Felix von Podewils","raw_affiliation_strings":["Department of Neurology, University Medicine Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University Medicine Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033633099","display_name":"Miriam Elbracht","orcid":"https://orcid.org/0000-0001-5088-1369","observed_orcids":["https://orcid.org/0000-0001-5088-1369"]},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Miriam Elbracht","raw_affiliation_strings":["Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052643297","display_name":"Stefanie Spiegler","orcid":"https://orcid.org/0000-0002-7405-2554","observed_orcids":["https://orcid.org/0000-0002-7405-2554"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefanie Spiegler","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019536489","display_name":"Ingo Kurth","orcid":"https://orcid.org/0000-0002-5642-8378","observed_orcids":["https://orcid.org/0000-0002-5642-8378"]},"institutions":[{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ingo Kurth","raw_affiliation_strings":["Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany","institution_ids":["https://openalex.org/I887968799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041380550","display_name":"Agnes Fl\u00f6el","orcid":"https://orcid.org/0000-0002-1475-5872","observed_orcids":["https://orcid.org/0000-0002-1475-5872"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Agnes Fl\u00f6el","raw_affiliation_strings":["Department of Neurology, University Medicine Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University Medicine Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078433431","display_name":"Henry W. S. Schroeder","orcid":"https://orcid.org/0000-0002-9095-1517","observed_orcids":["https://orcid.org/0000-0002-9095-1517"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Henry W. S. Schroeder","raw_affiliation_strings":["Department of Neurosurgery, University Medicine Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, University Medicine Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036148832","display_name":"Ute Felbor","orcid":"https://orcid.org/0009-0008-0739-1936","observed_orcids":["https://orcid.org/0009-0008-0739-1936"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ute Felbor","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086331722","display_name":"Matthias Rath","orcid":"https://orcid.org/0000-0002-7834-4650","observed_orcids":["https://orcid.org/0000-0002-7834-4650"]},"institutions":[{"id":"https://openalex.org/I2799318839","display_name":"Universit\u00e4tsmedizin Greifswald","ror":"https://ror.org/025vngs54","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799318839"]},{"id":"https://openalex.org/I36522303","display_name":"Universit\u00e4t Greifswald","ror":"https://ror.org/00r1edq15","country_code":"DE","type":"education","lineage":["https://openalex.org/I36522303"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Matthias Rath","raw_affiliation_strings":["Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany","institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5086331722"],"corresponding_institution_ids":["https://openalex.org/I2799318839","https://openalex.org/I36522303"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":2950,"currency":"USD","value_usd":2950},"fwci":1.4947,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.79869663,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"10","issue":null,"first_page":"1219","last_page":"1219"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0008999999845400453,"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/T10420","display_name":"Intracranial Aneurysms: Treatment and Complications","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/cerebral-cavernous-malformations","display_name":"cerebral cavernous malformations","score":0.9810000061988831},{"id":"https://openalex.org/keywords/ccm2","display_name":"CCM2","score":0.996999979019165},{"id":"https://openalex.org/keywords/cassette-exons","display_name":"cassette exons","score":0.703000009059906},{"id":"https://openalex.org/keywords/novel-pathogenic-variant","display_name":"novel pathogenic variant","score":0.8259999752044678},{"id":"https://openalex.org/keywords/splice-donor-site","display_name":"splice donor site","score":0.7789999842643738},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"alternative splicing","score":0.9229999780654907},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.6669999957084656},{"id":"https://openalex.org/keywords/natural-history-of-disease","display_name":"natural history of disease","score":0.5929999947547913},{"id":"https://openalex.org/keywords/mutation-carriers","display_name":"mutation carriers","score":0.7929999828338623},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8500000238418579},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.640999972820282}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7027519941329956},{"id":"https://openalex.org/C2779756704","wikidata":"https://www.wikidata.org/wiki/Q1737261","display_name":"Cavernous malformations","level":3,"score":0.5976553559303284},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.513559103012085},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4058936834335327},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3944922983646393},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31231799721717834},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2892828583717346},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17243599891662598},{"id":"https://openalex.org/C2781156865","wikidata":"https://www.wikidata.org/wiki/Q827023","display_name":"Lesion","level":2,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3389/fneur.2019.01219","doi":"https://doi.org/10.3389/fneur.2019.01219","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.01219","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.01219/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},{"id":"pmid:31824402","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31824402","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":"Frontiers in neurology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6879547","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6879547/","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Neurol","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:aa2a460795ba46208c7cdfca7b23fa83","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/aa2a460795ba46208c7cdfca7b23fa83","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Neurology, Vol 10 (2019)","raw_type":"article"},{"id":"pmh:oai:publications.rwth-aachen.de:781018","doi":null,"is_oa":true,"landing_page_url":"https://publications.rwth-aachen.de/record/781018","pdf_url":null,"source":{"id":"https://openalex.org/S4306401362","display_name":"RWTH Publications (RWTH Aachen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I887968799","host_organization_name":"RWTH Aachen University","host_organization_lineage":["https://openalex.org/I887968799"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in neurology 10, 1219 (2019). doi:10.3389/fneur.2019.01219","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.3389/fneur.2019.01219","doi":"https://doi.org/10.3389/fneur.2019.01219","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.01219","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.01219/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4487036962","display_name":null,"funder_award_id":"RA2876/2-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2989700010.pdf","grobid_xml":"https://content.openalex.org/works/W2989700010.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W1965856472","https://openalex.org/W1967147410","https://openalex.org/W1967287922","https://openalex.org/W1972483642","https://openalex.org/W1974874262","https://openalex.org/W2011268272","https://openalex.org/W2025875913","https://openalex.org/W2032149683","https://openalex.org/W2047238601","https://openalex.org/W2047433704","https://openalex.org/W2051978340","https://openalex.org/W2064438548","https://openalex.org/W2066710863","https://openalex.org/W2071769899","https://openalex.org/W2083870688","https://openalex.org/W2085755265","https://openalex.org/W2102964292","https://openalex.org/W2110537012","https://openalex.org/W2149294141","https://openalex.org/W2604398044","https://openalex.org/W2745493620","https://openalex.org/W2774529732","https://openalex.org/W2793737658","https://openalex.org/W2889323995"],"related_works":["https://openalex.org/W7214236780","https://openalex.org/W2071769899","https://openalex.org/W4283722049","https://openalex.org/W2970677111","https://openalex.org/W2521125982","https://openalex.org/W2905830487","https://openalex.org/W3120202109","https://openalex.org/W2889323995","https://openalex.org/W3005200169","https://openalex.org/W2900595682"],"abstract_inverted_index":{"Autosomal":[0],"dominant":[1],"cerebral":[2],"cavernous":[3],"malformation":[4],"(CCM)":[5],"represents":[6],"a":[7,11,169,180],"genetic":[8,88],"disorder":[9],"with":[10,55,95],"high":[12],"mutation":[13,147],"detection":[14,188],"rate":[15],"given":[16],"that":[17,100],"stringent":[18],"inclusion":[19],"criteria":[20],"are":[21,28,77,101],"used":[22],"and":[23,82,89,130,149,184],"copy":[24,185],"number":[25,186],"variation":[26,187],"analyses":[27,195],"part":[29],"of":[30,52,64,71,92,143,156,164,179],"the":[31,62,69,111,131,140,154,157,162,177],"diagnostic":[32,200],"workflow.":[33],"Pathogenic":[34],"variants":[35,67,96,126],"in":[36,47,68,97,110,127,136,146,190],"either":[37,102],"CCM1":[38],"(KRIT1),":[39],"CCM2":[40,72,93,108,125],"or":[41,104],"CCM3":[42],"(PDCD10)":[43],"can":[44,114,197],"be":[45],"identified":[46],"87":[48],"to":[49],"98":[50],"%":[51],"CCM":[53,144],"families":[54],"at":[56],"least":[57],"two":[58],"affected":[59],"patients.":[60],"However,":[61],"interpretation":[63],"novel":[65,123],"sequence":[66],"5'-region":[70],"remains":[73],"challenging":[74],"as":[75,168],"there":[76],"various":[78],"alternatively":[79],"spliced":[80],"transcripts":[81,109],"different":[83],"transcription":[84],"start":[85],"sites.":[86],"Comprehensive":[87],"clinical":[90,117],"data":[91],"patients":[94],"cassette":[98,166],"exons":[99],"skipped":[103],"included":[105],"into":[106],"alternative":[107],"splicing":[112],"process":[113],"significantly":[115,198],"facilitate":[116],"variant":[118],"interpretation.":[119],"We":[120],"here":[121],"report":[122],"pathogenic":[124],"exon":[128,167],"3":[129],"adjacent":[132],"donor":[133],"splice":[134],"site":[135],"intron":[137],"4,":[138],"describe":[139],"natural":[141],"history":[142],"disease":[145],"carriers":[148],"provide":[150],"further":[151],"evidence":[152],"for":[153],"classification":[155],"amino":[158],"acids":[159],"encoded":[160],"by":[161],"nucleotides":[163],"this":[165],"critical":[170],"region":[171],"within":[172],"CCM2.":[173],"Finally,":[174],"we":[175],"illustrate":[176],"advantage":[178],"combined":[181],"single":[182],"nucleotide":[183],"approach":[189],"NGS-based":[191],"CCM1/CCM2/CCM3":[192],"gene":[193],"panel":[194],"which":[196],"reduce":[199],"turnaround":[201],"time.":[202]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-12-05T00:00:00"}
