{"id":"https://openalex.org/W4382631903","doi":"https://doi.org/10.1038/s41576-023-00621-w","title":"Genomic newborn screening for rare diseases","display_name":"Genomic newborn screening for rare diseases","publication_year":2023,"publication_date":"2023-06-29","ids":{"openalex":"https://openalex.org/W4382631903","doi":"https://doi.org/10.1038/s41576-023-00621-w","pmid":"https://pubmed.ncbi.nlm.nih.gov/37386126"},"language":"en","primary_location":{"id":"doi:10.1038/s41576-023-00621-w","doi":"https://doi.org/10.1038/s41576-023-00621-w","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s41576-023-00621-w","pdf_url":null,"source":{"id":"https://openalex.org/S8553189","display_name":"Nature Reviews Genetics","issn_l":"1471-0056","issn":["1471-0056","1471-0064"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Reviews Genetics","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5065109936","display_name":"Zornitza Stark","orcid":"https://orcid.org/0000-0001-8640-1371","observed_orcids":["https://orcid.org/0000-0001-8640-1371"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4405269685","display_name":"Australian Genomics Health Alliance","ror":"https://ror.org/04y1rbh73","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4405269685"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Zornitza Stark","raw_affiliation_strings":["Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","Australian Genomics, Melbourne, Victoria, Australia"],"raw_orcid":"https://orcid.org/0000-0001-8640-1371","affiliations":[{"raw_affiliation_string":"Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","institution_ids":["https://openalex.org/I4405269685"]},{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au","institution_ids":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"raw_affiliation_string":"Australian Genomics, Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I4405269685"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021709237","display_name":"Richard H. Scott","orcid":"https://orcid.org/0000-0002-9113-2978","observed_orcids":["https://orcid.org/0000-0002-9113-2978"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210143578","display_name":"Genomics England","ror":"https://ror.org/04rxxfz69","country_code":"GB","type":"other","lineage":["https://openalex.org/I1311074006","https://openalex.org/I4210143578"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Richard H. Scott","raw_affiliation_strings":["Genomics England, London, UK","Great Ormond Street Hospital for Children, London, UK","UCL Great Ormond Street Institute of Child Health, London, UK"],"raw_orcid":"https://orcid.org/0000-0002-9113-2978","affiliations":[{"raw_affiliation_string":"Genomics England, London, UK","institution_ids":["https://openalex.org/I4210143578"]},{"raw_affiliation_string":"Great Ormond Street Hospital for Children, London, UK","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"UCL Great Ormond Street Institute of Child Health, London, UK","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5065109936"],"corresponding_institution_ids":["https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290","https://openalex.org/I4405269685"],"apc_list":null,"apc_paid":null,"fwci":8.2722,"has_fulltext":false,"cited_by_count":246,"citation_normalized_percentile":{"value":0.99310662,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"24","issue":"11","first_page":"755","last_page":"766"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9916999936103821,"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":0.9916999936103821,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.007400000002235174,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genomic-newborn-screening","display_name":"genomic newborn screening","score":0.9089999794960022},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.9959999918937683},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.5370000004768372},{"id":"https://openalex.org/keywords/genome-sequencing","display_name":"genome sequencing","score":0.875},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.8100000023841858},{"id":"https://openalex.org/keywords/infant-mortality","display_name":"infant mortality","score":0.6200000047683716},{"id":"https://openalex.org/keywords/research-priorities","display_name":"research priorities","score":0.6480000019073486}],"concepts":[{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.722824215888977},{"id":"https://openalex.org/C2992545694","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Genomic medicine","level":2,"score":0.6010071039199829},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5814149379730225},{"id":"https://openalex.org/C2994067223","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"Genomic sequencing","level":4,"score":0.5360913872718811},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4752088487148285},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.4347928762435913},{"id":"https://openalex.org/C150966472","wikidata":"https://www.wikidata.org/wiki/Q3410145","display_name":"Psychosocial","level":2,"score":0.42948007583618164},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4163857102394104},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3595007658004761},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2785225510597229},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2753159701824188},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.23521852493286133},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1321679651737213},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10893172025680542},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10181534290313721},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.06900736689567566}],"mesh":[{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000941","qualifier_name":"ethics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000941","qualifier_name":"ethics","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/s41576-023-00621-w","doi":"https://doi.org/10.1038/s41576-023-00621-w","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s41576-023-00621-w","pdf_url":null,"source":{"id":"https://openalex.org/S8553189","display_name":"Nature Reviews Genetics","issn_l":"1471-0056","issn":["1471-0056","1471-0064"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Reviews Genetics","raw_type":"journal-article"},{"id":"pmid:37386126","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37386126","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":"Nature reviews. Genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":141,"referenced_works":["https://openalex.org/W55186658","https://openalex.org/W1493277429","https://openalex.org/W1596206507","https://openalex.org/W1700762969","https://openalex.org/W1874862659","https://openalex.org/W1968507121","https://openalex.org/W2006085701","https://openalex.org/W2006494411","https://openalex.org/W2008081600","https://openalex.org/W2021829252","https://openalex.org/W2051978340","https://openalex.org/W2068962868","https://openalex.org/W2076701401","https://openalex.org/W2082484854","https://openalex.org/W2102072454","https://openalex.org/W2140092196","https://openalex.org/W2163438347","https://openalex.org/W2167030730","https://openalex.org/W2237292314","https://openalex.org/W2280965259","https://openalex.org/W2338048937","https://openalex.org/W2396623920","https://openalex.org/W2407156625","https://openalex.org/W2443172870","https://openalex.org/W2509565795","https://openalex.org/W2575447387","https://openalex.org/W2578037138","https://openalex.org/W2581649032","https://openalex.org/W2591417052","https://openalex.org/W2611574484","https://openalex.org/W2625243576","https://openalex.org/W2751736350","https://openalex.org/W2765279867","https://openalex.org/W2765869742","https://openalex.org/W2768222629","https://openalex.org/W2798221581","https://openalex.org/W2799324424","https://openalex.org/W2805193585","https://openalex.org/W2810860483","https://openalex.org/W2884629941","https://openalex.org/W2889401411","https://openalex.org/W2896169521","https://openalex.org/W2906821085","https://openalex.org/W2907146740","https://openalex.org/W2907335912","https://openalex.org/W2907453142","https://openalex.org/W2921414392","https://openalex.org/W2945008440","https://openalex.org/W2950774550","https://openalex.org/W2953369183","https://openalex.org/W2953519286","https://openalex.org/W2959501818","https://openalex.org/W2968056096","https://openalex.org/W2971632170","https://openalex.org/W2979614510","https://openalex.org/W2987746715","https://openalex.org/W2988630324","https://openalex.org/W2994844251","https://openalex.org/W3001360924","https://openalex.org/W3004968494","https://openalex.org/W3010925184","https://openalex.org/W3023104365","https://openalex.org/W3035821413","https://openalex.org/W3035898120","https://openalex.org/W3037727765","https://openalex.org/W3046991394","https://openalex.org/W3047648154","https://openalex.org/W3081256656","https://openalex.org/W3089864083","https://openalex.org/W3094140895","https://openalex.org/W3096103868","https://openalex.org/W3096524868","https://openalex.org/W3112204464","https://openalex.org/W3113498109","https://openalex.org/W3117361835","https://openalex.org/W3126692631","https://openalex.org/W3126876774","https://openalex.org/W3136923074","https://openalex.org/W3137216793","https://openalex.org/W3137517403","https://openalex.org/W3138612854","https://openalex.org/W3143561573","https://openalex.org/W3150393819","https://openalex.org/W3172870918","https://openalex.org/W3173733146","https://openalex.org/W3175155437","https://openalex.org/W3185808000","https://openalex.org/W3185857428","https://openalex.org/W3186573278","https://openalex.org/W3195429937","https://openalex.org/W3212464243","https://openalex.org/W3212621350","https://openalex.org/W3213819329","https://openalex.org/W3214293818","https://openalex.org/W4205511747","https://openalex.org/W4206754436","https://openalex.org/W4211050597","https://openalex.org/W4212924521","https://openalex.org/W4213370504","https://openalex.org/W4214613209","https://openalex.org/W4224937098","https://openalex.org/W4225758925","https://openalex.org/W4229028589","https://openalex.org/W4229070142","https://openalex.org/W4229444535","https://openalex.org/W4229447495","https://openalex.org/W4243743423","https://openalex.org/W4281493103","https://openalex.org/W4281557951","https://openalex.org/W4281771503","https://openalex.org/W4284679828","https://openalex.org/W4285593256","https://openalex.org/W4285733434","https://openalex.org/W4285992907","https://openalex.org/W4286562037","https://openalex.org/W4288886378","https://openalex.org/W4291284557","https://openalex.org/W4292951299","https://openalex.org/W4302781335","https://openalex.org/W4303423400","https://openalex.org/W4304080650","https://openalex.org/W4304184038","https://openalex.org/W4306399213","https://openalex.org/W4307617206","https://openalex.org/W4308074043","https://openalex.org/W4308189234","https://openalex.org/W4309723391","https://openalex.org/W4310281867","https://openalex.org/W4311127233","https://openalex.org/W4311423537","https://openalex.org/W4311448439","https://openalex.org/W4311922182","https://openalex.org/W4312113155","https://openalex.org/W4317682398","https://openalex.org/W4318561980","https://openalex.org/W4319655568","https://openalex.org/W4320730118","https://openalex.org/W4322762719","https://openalex.org/W4323294194","https://openalex.org/W4379878129","https://openalex.org/W6629462387"],"related_works":["https://openalex.org/W4406739932","https://openalex.org/W4285733434","https://openalex.org/W4405573003","https://openalex.org/W4406614681","https://openalex.org/W4412047840","https://openalex.org/W4408507130","https://openalex.org/W4406036919","https://openalex.org/W4415231790","https://openalex.org/W4387599768","https://openalex.org/W4399809743"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":86},{"year":2025,"cited_by_count":90},{"year":2024,"cited_by_count":56},{"year":2023,"cited_by_count":14}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2023-07-01T00:00:00"}
