{"id":"https://openalex.org/W2894895047","doi":"https://doi.org/10.1097/shk.0000000000001254","title":"Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome","display_name":"Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome","publication_year":2018,"publication_date":"2018-10-06","ids":{"openalex":"https://openalex.org/W2894895047","doi":"https://doi.org/10.1097/shk.0000000000001254","mag":"2894895047","pmid":"https://pubmed.ncbi.nlm.nih.gov/30289850","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6447489"},"language":"en","primary_location":{"id":"doi:10.1097/shk.0000000000001254","doi":"https://doi.org/10.1097/shk.0000000000001254","is_oa":false,"landing_page_url":"https://doi.org/10.1097/shk.0000000000001254","pdf_url":null,"source":{"id":"https://openalex.org/S174819509","display_name":"Shock","issn_l":"1073-2322","issn":["1073-2322","1540-0514"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Shock","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6447489","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064364327","display_name":"Richard W. Pierce","orcid":"https://orcid.org/0000-0001-5941-8805","observed_orcids":["https://orcid.org/0000-0001-5941-8805"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Richard Pierce","raw_affiliation_strings":["Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074342081","display_name":"Weizhen Ji","orcid":"https://orcid.org/0000-0002-3452-6030","observed_orcids":["https://orcid.org/0000-0002-3452-6030"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Weizhen Ji","raw_affiliation_strings":["Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104251400","display_name":"Eunice Ching Chan","orcid":"https://orcid.org/0000-0003-0599-5898","observed_orcids":["https://orcid.org/0000-0003-0599-5898"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eunice C. Chan","raw_affiliation_strings":["Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101555450","display_name":"Zhihui Xie","orcid":"https://orcid.org/0000-0003-4699-5093","observed_orcids":["https://orcid.org/0000-0003-4699-5093"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhihui Xie","raw_affiliation_strings":["Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103530587","display_name":"Lauren Long","orcid":"https://orcid.org/0009-0002-6812-8513","observed_orcids":["https://orcid.org/0009-0002-6812-8513"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lauren M. Long","raw_affiliation_strings":["Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067795566","display_name":"Mustafa Kezar Khokha","orcid":"https://orcid.org/0000-0002-9846-7076","observed_orcids":["https://orcid.org/0000-0002-9846-7076"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mustafa Khokha","raw_affiliation_strings":["Department of Genetics, Yale University, New Haven, Connecticut","Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Yale University, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083885931","display_name":"Saquib Ali Lakhani","orcid":"https://orcid.org/0000-0003-3235-3460","observed_orcids":["https://orcid.org/0000-0003-3235-3460"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Saquib Lakhani","raw_affiliation_strings":["Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University, New Haven, Connecticut","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004382885","display_name":"Kirk M. Druey","orcid":"https://orcid.org/0000-0002-5834-6501","observed_orcids":["https://orcid.org/0000-0002-5834-6501"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kirk M. Druey","raw_affiliation_strings":["Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Health, Institute of Allergy and Infectious Disease, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5064364327","https://openalex.org/A5067795566","https://openalex.org/A5074342081","https://openalex.org/A5083885931"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":null,"apc_paid":null,"fwci":1.2221,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.78928571,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"52","issue":"2","first_page":"183","last_page":"190"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7973999977111816,"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":0.7973999977111816,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.05299999937415123,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.03739999979734421,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/systemic-capillary-leak-syndrome","display_name":"systemic capillary leak syndrome","score":1.0},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8050000071525574},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.871999979019165},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.6129999756813049},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5139999985694885},{"id":"https://openalex.org/keywords/adult-patients","display_name":"adult patients","score":0.8539999723434448},{"id":"https://openalex.org/keywords/hypovolemic-shock","display_name":"hypovolemic shock","score":0.7739999890327454},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.6679999828338623},{"id":"https://openalex.org/keywords/first-degree-relatives","display_name":"first-degree relatives","score":0.5720000267028809}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5883212685585022},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4888460040092468},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.46503371000289917},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4575672447681427},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4360898435115814},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3969188928604126},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3392985463142395},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2705649137496948},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.22822973132133484},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.14840057492256165}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008954","descriptor_name":"Models, Biological","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019559","descriptor_name":"Capillary Leak Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019559","descriptor_name":"Capillary Leak Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019559","descriptor_name":"Capillary Leak Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1097/shk.0000000000001254","doi":"https://doi.org/10.1097/shk.0000000000001254","is_oa":false,"landing_page_url":"https://doi.org/10.1097/shk.0000000000001254","pdf_url":null,"source":{"id":"https://openalex.org/S174819509","display_name":"Shock","issn_l":"1073-2322","issn":["1073-2322","1540-0514"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Shock","raw_type":"journal-article"},{"id":"pmid:30289850","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30289850","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":"Shock (Augusta, Ga.)","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6447489","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6447489","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":"Shock","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6447489","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6447489","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":"Shock","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.5199999809265137,"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/G1474581370","display_name":"Cardiac phenotyping of CHD candidate genes in Xenopus","funder_award_id":"R33HL120783","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G669379964","display_name":null,"funder_award_id":"L40 HL129262","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G6737403005","display_name":"YALE PEDIATRIC BASIC SCIENCE TRAINING PROGRAM","funder_award_id":"T32HD068201","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000905448","display_name":"Yale Clinical and Translational Science Award","funder_award_id":"UL1TR001863","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/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W1545010974","https://openalex.org/W1560189574","https://openalex.org/W1972950453","https://openalex.org/W1978979387","https://openalex.org/W1989912568","https://openalex.org/W2017237017","https://openalex.org/W2024751825","https://openalex.org/W2037962519","https://openalex.org/W2061047208","https://openalex.org/W2064526903","https://openalex.org/W2082825524","https://openalex.org/W2092750860","https://openalex.org/W2093884971","https://openalex.org/W2096694813","https://openalex.org/W2115245165","https://openalex.org/W2117009630","https://openalex.org/W2146240758","https://openalex.org/W2157752701","https://openalex.org/W2169353153","https://openalex.org/W2170278848","https://openalex.org/W2265028954","https://openalex.org/W2265992920","https://openalex.org/W2276513202","https://openalex.org/W2564926618","https://openalex.org/W2573094502","https://openalex.org/W2582535998","https://openalex.org/W2584900713","https://openalex.org/W2622337650","https://openalex.org/W2623250711","https://openalex.org/W2754543686","https://openalex.org/W2755030794","https://openalex.org/W2762508685","https://openalex.org/W2767793687","https://openalex.org/W2790554811"],"related_works":["https://openalex.org/W7095596530","https://openalex.org/W4403263431","https://openalex.org/W2520719577","https://openalex.org/W3117330278","https://openalex.org/W2170278848","https://openalex.org/W3176079550","https://openalex.org/W2884305526","https://openalex.org/W2965798092","https://openalex.org/W2801728587","https://openalex.org/W2922425754"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Systemic":[1],"capillary":[2],"leak":[3],"syndrome":[4],"(SCLS)":[5],"is":[6,26,231],"a":[7,49,137,211,232],"rare":[8,115,192],"disorder":[9],"that":[10,57],"presents":[11],"with":[12,34,99,123,133,140,172,182,191,203,245],"episodes":[13,141],"of":[14,45,72,74,189,199,243],"hypovolemic":[15],"shock.":[16],"The":[17,196],"extent":[18],"to":[19,24,40,53,143,239],"which":[20],"genetic":[21,51,215,247],"abnormalities":[22],"contribute":[23],"SCLS":[25,80,134,167,204],"unknown.":[27],"We":[28,38,207],"identified":[29,164,178,220],"pediatric":[30,79],"and":[31,55,77,82,91,97,105,120,126,150,201],"adult":[32,76],"cohorts":[33],"characteristic":[35],"clinical":[36,43,197],"courses.":[37],"sought":[39],"describe":[41],"the":[42,241],"characteristics":[44,198],"both":[46],"cohorts,":[47],"identify":[48,210],"possible":[50],"contribution":[52],"SCLS,":[54],"demonstrate":[56],"whole-exome":[58],"sequencing":[59],"(WES)":[60],"may":[61],"be":[62],"conducted":[63],"by":[64,146],"critical":[65,236],"care":[66,237],"providers.":[67],"DESIGN:":[68],"Prospective":[69],"observational":[70],"study":[71],"WES":[73,219,230],"nine":[75],"eight":[78],"patients":[81,149,226],"available":[83,106,151],"unaffected":[84],"first-degree":[85,107],"relatives.":[86],"SETTING:":[87],"Tertiary":[88],"children's":[89],"hospitals":[90],"referral":[92],"research":[93],"laboratory.":[94],"PATIENTS:":[95],"Children":[96,132],"adults":[98,202],"SCLS.":[100,183,218],"INTERVENTIONS:":[101],"None.":[102],"MEASUREMENTS:":[103],"Patients":[104],"relatives":[108,152],"underwent":[109,153],"WES.":[110,155],"Data":[111],"were":[112,163,177],"analyzed":[113],"for":[114,217,227,235],"homozygous,":[116],"biallelic,":[117],"de":[118],"novo,":[119],"heterozygous":[121,193],"variants":[122,159],"allelic":[124],"enrichment":[125,188],"metabolic":[127,161],"pathway":[128],"analyses.":[129],"MAIN":[130],"RESULTS:":[131],"presented":[135],"at":[136],"younger":[138],"age":[139],"similar":[142],"those":[144],"experienced":[145],"adults.":[147],"All":[148],"satisfactory":[154],"No":[156],"overlapping":[157],"gene":[158],"or":[160,174],"pathways":[162],"across":[165],"all":[166],"patients.":[168],"Multiple":[169],"candidate":[170,222],"genes":[171,190,223],"homozygous":[173],"biallelic":[175],"mutations":[176],"in":[179,224],"individual":[180,225],"subjects":[181],"There":[184],"was":[185],"no":[186],"significant":[187],"variants.":[194],"CONCLUSIONS:":[195],"children":[200],"are":[205],"similar.":[206],"did":[208],"not":[209],"uniform":[212],"germline":[213],"exomic":[214],"etiology":[216,242],"several":[221],"future":[228],"research.":[229],"viable":[233],"way":[234],"providers":[238],"investigate":[240],"diseases":[244],"presumed":[246],"contributions.":[248]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":7},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2018-10-12T00:00:00"}
