{"id":"https://openalex.org/W3093007751","doi":"https://doi.org/10.1038/s41436-020-00989-8","title":"Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results","display_name":"Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results","publication_year":2020,"publication_date":"2020-10-19","ids":{"openalex":"https://openalex.org/W3093007751","doi":"https://doi.org/10.1038/s41436-020-00989-8","mag":"3093007751","pmid":"https://pubmed.ncbi.nlm.nih.gov/33077891","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7862053"},"language":"en","primary_location":{"id":"doi:10.1038/s41436-020-00989-8","doi":"https://doi.org/10.1038/s41436-020-00989-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41436-020-00989-8","pdf_url":null,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","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","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1038/s41436-020-00989-8","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034041074","display_name":"Ramakrishnan Rajagopalan","orcid":"https://orcid.org/0000-0002-5751-9239","observed_orcids":["https://orcid.org/0000-0002-5751-9239"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I72816309","display_name":"Drexel University","ror":"https://ror.org/04bdffz58","country_code":"US","type":"education","lineage":["https://openalex.org/I72816309"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ramakrishnan Rajagopalan","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","School of Biomedical Engineering, Health and Sciences, Drexel University, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"School of Biomedical Engineering, Health and Sciences, Drexel University, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I72816309"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015066546","display_name":"Melissa A. Gilbert","orcid":"https://orcid.org/0000-0001-5345-1911","observed_orcids":["https://orcid.org/0000-0001-5345-1911"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa A. Gilbert","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076618014","display_name":"Deborah McEldrew","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah A. McEldrew","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030523972","display_name":"James A. Nassur","orcid":"https://orcid.org/0000-0002-9659-7547","observed_orcids":["https://orcid.org/0000-0002-9659-7547"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James A. Nassur","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063054175","display_name":"Kathleen M. Loomes","orcid":"https://orcid.org/0000-0002-1539-6672","observed_orcids":["https://orcid.org/0000-0002-1539-6672"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen M. Loomes","raw_affiliation_strings":["Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110203818","display_name":"David A. Piccoli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David A. Piccoli","raw_affiliation_strings":["Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010801552","display_name":"Ian D. Krantz","orcid":"https://orcid.org/0000-0003-2442-1128","observed_orcids":["https://orcid.org/0000-0003-2442-1128"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ian D. Krantz","raw_affiliation_strings":["Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA","Roberts Individualized Medical Genetics Center, Division of Human Genetics at the Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Roberts Individualized Medical Genetics Center, Division of Human Genetics at the Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049699006","display_name":"Laura Kathleen Conlin","orcid":"https://orcid.org/0000-0003-2330-8158","observed_orcids":["https://orcid.org/0000-0003-2330-8158"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura K. Conlin","raw_affiliation_strings":["Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028020710","display_name":"Nancy Bettina Spinner","orcid":"https://orcid.org/0000-0001-8109-3648","observed_orcids":["https://orcid.org/0000-0001-8109-3648"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nancy B. Spinner","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. spinner@email.chop.edu","Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. spinner@email.chop.edu","Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA","Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0001-8109-3648","affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. spinner@email.chop.edu","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. spinner@email.chop.edu","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5028020710"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":3900,"currency":"USD","value_usd":3900},"apc_paid":{"value":3900,"currency":"USD","value_usd":3900},"fwci":2.4898,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.90101333,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"23","issue":"2","first_page":"323","last_page":"330"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7979000210762024,"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":0.7979000210762024,"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/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.19020000100135803,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0017999999690800905,"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/alagille-syndrome","display_name":"Alagille syndrome","score":1.0},{"id":"https://openalex.org/keywords/genome-sequencing","display_name":"genome sequencing","score":0.9169999957084656},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.871999979019165},{"id":"https://openalex.org/keywords/jag1","display_name":"JAG1","score":0.9570000171661377},{"id":"https://openalex.org/keywords/notch2","display_name":"Notch2","score":1.0},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8109999895095825},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.9760000109672546},{"id":"https://openalex.org/keywords/promoter-polymorphism","display_name":"promoter polymorphism","score":0.8080000281333923},{"id":"https://openalex.org/keywords/novel-pathogenic-variant","display_name":"novel pathogenic variant","score":0.7889999747276306},{"id":"https://openalex.org/keywords/complex-rearrangements","display_name":"complex rearrangements","score":0.7459999918937683},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.5860000252723694},{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.8299999833106995}],"concepts":[{"id":"https://openalex.org/C2780971011","wikidata":"https://www.wikidata.org/wiki/Q1544408","display_name":"Alagille syndrome","level":3,"score":0.8618042469024658},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5262326598167419},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5208583474159241},{"id":"https://openalex.org/C134121241","wikidata":"https://www.wikidata.org/wiki/Q899301","display_name":"Yield (engineering)","level":2,"score":0.5011491775512695},{"id":"https://openalex.org/C2777267654","wikidata":"https://www.wikidata.org/wiki/Q3519023","display_name":"Test (biology)","level":2,"score":0.4219932556152344},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.4129481017589569},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4033786654472351},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.339707612991333},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3212406039237976},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2931133508682251},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14290151000022888},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.0},{"id":"https://openalex.org/C192562407","wikidata":"https://www.wikidata.org/wiki/Q228736","display_name":"Materials science","level":0,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C191897082","wikidata":"https://www.wikidata.org/wiki/Q11467","display_name":"Metallurgy","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000072100","descriptor_name":"Jagged-1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D016738","descriptor_name":"Alagille Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D016738","descriptor_name":"Alagille Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1038/s41436-020-00989-8","doi":"https://doi.org/10.1038/s41436-020-00989-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41436-020-00989-8","pdf_url":null,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7862053","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7862053","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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genet Med","raw_type":"Text"},{"id":"pmid:33077891","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33077891","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":"Genetics in medicine : official journal of the American College of Medical Genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/s41436-020-00989-8","doi":"https://doi.org/10.1038/s41436-020-00989-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41436-020-00989-8","pdf_url":null,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3836124913","display_name":null,"funder_award_id":"R01-DK081702","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4719045440","display_name":"General Clinical Research Center","funder_award_id":"M01RR000240","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G4931765502","display_name":"Genetic Modifiers of Liver Disease Severity in Alagille Syndrome","funder_award_id":"5r01dk081702-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6767025057","display_name":"Molecular Analysis of Alagille Syndrome","funder_award_id":"R01DK053104","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G7491586425","display_name":"Improving detection and interpretation of clinically relevant structural variation","funder_award_id":"R01HG009708","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1515731519","https://openalex.org/W1919257374","https://openalex.org/W1984475127","https://openalex.org/W2001478217","https://openalex.org/W2033136867","https://openalex.org/W2063184697","https://openalex.org/W2068206509","https://openalex.org/W2103533803","https://openalex.org/W2114654904","https://openalex.org/W2117275644","https://openalex.org/W2119818111","https://openalex.org/W2136145671","https://openalex.org/W2150506261","https://openalex.org/W2165213798","https://openalex.org/W2225287204","https://openalex.org/W2235737683","https://openalex.org/W2270303516","https://openalex.org/W2465108882","https://openalex.org/W2624099957","https://openalex.org/W2867868648","https://openalex.org/W2909194804","https://openalex.org/W2912491890","https://openalex.org/W2938156108","https://openalex.org/W2952002521","https://openalex.org/W2963461095","https://openalex.org/W3029661147","https://openalex.org/W3043159104","https://openalex.org/W4233892901","https://openalex.org/W4235536737","https://openalex.org/W6661927827"],"related_works":["https://openalex.org/W2734448790","https://openalex.org/W2473359393","https://openalex.org/W2751086138","https://openalex.org/W3002196287","https://openalex.org/W3164533936","https://openalex.org/W7166721101","https://openalex.org/W1964283035","https://openalex.org/W3082762427","https://openalex.org/W2017211665","https://openalex.org/W7128783861"],"abstract_inverted_index":{"PURPOSE:":[0],"Detection":[1],"of":[2,6,20,33,42,48,130,141,150,188],"all":[3,185],"major":[4,186],"classes":[5,187],"genomic":[7,21],"variants":[8,95,189],"in":[9,44,96,118,139,145],"a":[10,59,108,111,115,121,142,195],"single":[11,196],"test":[12,199],"would":[13],"decrease":[14],"cost":[15],"and":[16,76,86,93,98,114,120,190],"increase":[17],"the":[18,27,40,45,88],"efficiency":[19],"diagnostics.":[22],"Genome":[23],"sequencing":[24],"(GS)":[25],"has":[26,191],"potential":[28,192],"to":[29,38,193],"provide":[30],"this":[31],"level":[32],"comprehensive":[34],"detection.":[35],"We":[36,68],"sought":[37],"demonstrate":[39],"utility":[41],"GS":[43,70,101,133,155,182],"molecular":[46],"diagnosis":[47],"18":[49],"patients":[50,151],"with":[51,79,163],"clinically":[52,164],"defined":[53,165],"Alagille":[54],"syndrome":[55],"(ALGS),":[56],"who":[57,167],"had":[58,168],"negative":[60,170],"or":[61,171],"inconclusive":[62,80],"result":[63],"by":[64,175],"standard-of-care":[65],"testing.":[66],"METHODS:":[67],"performed":[69],"on":[71],"16":[72],"pathogenic":[73,105,143],"variant-negative":[74],"probands":[75,78],"two":[77,135],"results":[81,179],"(of":[82],"406":[83],"ALGS":[84,166],"probands)":[85],"analyzed":[87],"data":[89],"for":[90,125,161,200],"sequence,":[91],"copy-number,":[92],"structural":[94],"JAG1":[97],"NOTCH2.":[99],"RESULTS:":[100],"identified":[102],"four":[103],"novel":[104],"alterations":[106],"including":[107],"copy-neutral":[109],"inversion,":[110],"partial":[112,122],"deletion,":[113,124],"promoter":[116],"variant":[117,144],"JAG1,":[119],"NOTCH2":[123],"an":[126,157],"additional":[127],"diagnostic":[128,159,198],"yield":[129,160],"0.9%.":[131],"Furthermore,":[132],"resolved":[134],"complex":[136],"rearrangements,":[137],"resulting":[138],"identification":[140],"97.5%":[146],"(n":[147],"=":[148],"396/406)":[149],"after":[152],"GS.":[153],"CONCLUSION:":[154],"provided":[156],"increased":[158],"individuals":[162],"prior":[169],"incomplete":[172],"genetic":[173],"testing":[174],"other":[176],"methods.":[177],"Our":[178],"show":[180],"that":[181],"can":[183],"detect":[184],"become":[194],"first-tier":[197],"Mendelian":[201],"disorders.":[202]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":9},{"year":2021,"cited_by_count":5}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2020-10-22T00:00:00"}