{"id":"https://openalex.org/W3156699331","doi":"https://doi.org/10.1016/s1096-7192(21)00571-0","title":"Recurrent affected pregnancies ultimately leads to genetic diagnosis: a case report involving candidate gene CYS1","display_name":"Recurrent affected pregnancies ultimately leads to genetic diagnosis: a case report involving candidate gene CYS1","publication_year":2021,"publication_date":"2021-04-01","ids":{"openalex":"https://openalex.org/W3156699331","doi":"https://doi.org/10.1016/s1096-7192(21)00571-0","mag":"3156699331"},"language":"en","primary_location":{"id":"doi:10.1016/s1096-7192(21)00571-0","doi":"https://doi.org/10.1016/s1096-7192(21)00571-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s1096-7192(21)00571-0","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021224723","display_name":"Natalie Burrill","orcid":"https://orcid.org/0000-0002-6046-5999","observed_orcids":["https://orcid.org/0000-0002-6046-5999"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Natalie Burrill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000791673","display_name":"Stefanie B. Kasperski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stefanie Kasperski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064422190","display_name":"Jill Salva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jill Salva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065312436","display_name":"Ryne A. Didier","orcid":"https://orcid.org/0000-0002-4970-9905","observed_orcids":["https://orcid.org/0000-0002-4970-9905"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ryne Didier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024801347","display_name":"Edward R. Oliver","orcid":"https://orcid.org/0000-0002-5821-5085","observed_orcids":["https://orcid.org/0000-0002-5821-5085"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Edward Oliver","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033907618","display_name":"Avni Santani","orcid":"https://orcid.org/0000-0003-2871-4307","observed_orcids":["https://orcid.org/0000-0003-2871-4307"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Avni Santani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074532704","display_name":"Juliana S. Gebb","orcid":"https://orcid.org/0000-0001-5829-1961","observed_orcids":["https://orcid.org/0000-0001-5829-1961"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juliana Gebb","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057183552","display_name":"Erum Aftab Hartung","orcid":"https://orcid.org/0000-0001-5617-6505","observed_orcids":["https://orcid.org/0000-0001-5617-6505"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Erum Hartung","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005734061","display_name":"Lori A. Christ","orcid":"https://orcid.org/0000-0003-0901-2684","observed_orcids":["https://orcid.org/0000-0003-0901-2684"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lori Christ","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003538467","display_name":"Shelly Soni","orcid":"https://orcid.org/0000-0002-3019-0031","observed_orcids":["https://orcid.org/0000-0002-3019-0031"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shelly Soni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5083554330","display_name":"Julie S. Moldenhauer","orcid":"https://orcid.org/0000-0001-7509-5102","observed_orcids":["https://orcid.org/0000-0001-7509-5102"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julie Moldenhauer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3590,"currency":"USD","value_usd":3590},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.06336292,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"132","issue":null,"first_page":"S316","last_page":"S317"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9603999853134155,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9603999853134155,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.01810000091791153,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0038999998942017555,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/recurrent-pregnancy-loss","display_name":"recurrent pregnancy loss","score":0.8820000290870667},{"id":"https://openalex.org/keywords/cysteine-synthase","display_name":"cysteine synthase","score":0.5410000085830688},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.7990000247955322},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.7329999804496765},{"id":"https://openalex.org/keywords/cysteine-metabolism","display_name":"cysteine metabolism","score":0.5350000262260437}],"concepts":[{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5371383428573608},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.47763147950172424},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4312676787376404},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3979068994522095},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38428938388824463},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36551111936569214}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s1096-7192(21)00571-0","doi":"https://doi.org/10.1016/s1096-7192(21)00571-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s1096-7192(21)00571-0","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Molecular Genetics and Metabolism","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4210566799","https://openalex.org/W2622519051","https://openalex.org/W4408501888","https://openalex.org/W2272719709","https://openalex.org/W2291423361","https://openalex.org/W4416973633","https://openalex.org/W2053776795","https://openalex.org/W1969358934","https://openalex.org/W2740472083","https://openalex.org/W4232887264"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-25T08:18:29.962427","created_date":"2021-04-26T00:00:00"}