{"id":"https://openalex.org/W1993224596","doi":"https://doi.org/10.1038/sj.ejhg.5200558","title":"Simple two-color array-based approach for mutation detection","display_name":"Simple two-color array-based approach for mutation detection","publication_year":2000,"publication_date":"2000-10-31","ids":{"openalex":"https://openalex.org/W1993224596","doi":"https://doi.org/10.1038/sj.ejhg.5200558","mag":"1993224596","pmid":"https://pubmed.ncbi.nlm.nih.gov/11093279"},"language":"en","primary_location":{"id":"doi:10.1038/sj.ejhg.5200558","doi":"https://doi.org/10.1038/sj.ejhg.5200558","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5200558","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5062228025","display_name":"Paolo M. Fortina","orcid":"https://orcid.org/0000-0002-5898-2081","observed_orcids":["https://orcid.org/0000-0002-5898-2081"]},"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":"Paolo Fortina","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. fortina@mail.med.upenn.edu","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. fortina@mail.med.upenn.edu","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111835423","display_name":"Kathleen Delgrosso","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen Delgrosso","raw_affiliation_strings":["duPont Hospital for Children, Wilmington, DE","duPont Hospital for Children, Wilmington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"duPont Hospital for Children, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]},{"raw_affiliation_string":"duPont Hospital for Children, Wilmington","institution_ids":["https://openalex.org/I1326254912"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076751469","display_name":"Taku Sakazume","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":"Taku Sakazume","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048790207","display_name":"Rosa Santacroce","orcid":"https://orcid.org/0000-0003-4632-5727","observed_orcids":["https://orcid.org/0000-0003-4632-5727"]},"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":"Rosa Santacroce","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113575458","display_name":"St\u00e9phane Moutereau","orcid":"https://orcid.org/0000-0003-1548-4645","observed_orcids":["https://orcid.org/0000-0003-1548-4645"]},"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":"Stephane Moutereau","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102073273","display_name":"Hung-Ju Su","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":"Hung-Ju Su","raw_affiliation_strings":["Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia, PA","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia","Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia, PA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111911442","display_name":"David J. Graves","orcid":null,"observed_orcids":[]},"institutions":[{"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 Graves","raw_affiliation_strings":["Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia, PA","Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia, PA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Chemical Engineering University of Pennsylvania School of Engineering and Applied Science, Philadelphia","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082480194","display_name":"Steven Edward McKenzie","orcid":"https://orcid.org/0000-0003-2654-8560","observed_orcids":["https://orcid.org/0000-0003-2654-8560"]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven McKenzie","raw_affiliation_strings":["Department of Pediatrics, Jefferson College of Medicine, Philadelphia, PA","duPont Hospital for Children, Wilmington, DE","Department of Pediatrics, Jefferson College of Medicine, Philadelphia","duPont Hospital for Children, Wilmington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Jefferson College of Medicine, Philadelphia, PA","institution_ids":[]},{"raw_affiliation_string":"duPont Hospital for Children, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]},{"raw_affiliation_string":"Department of Pediatrics, Jefferson College of Medicine, Philadelphia","institution_ids":[]},{"raw_affiliation_string":"duPont Hospital for Children, Wilmington","institution_ids":["https://openalex.org/I1326254912"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038834229","display_name":"Saul Surrey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Saul Surrey","raw_affiliation_strings":["Department of Pediatrics, Jefferson College of Medicine, Philadelphia, PA","duPont Hospital for Children, Wilmington, DE","Department of Pediatrics, Jefferson College of Medicine, Philadelphia","duPont Hospital for Children, Wilmington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Jefferson College of Medicine, Philadelphia, PA","institution_ids":[]},{"raw_affiliation_string":"duPont Hospital for Children, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]},{"raw_affiliation_string":"Department of Pediatrics, Jefferson College of Medicine, Philadelphia","institution_ids":[]},{"raw_affiliation_string":"duPont Hospital for Children, Wilmington","institution_ids":["https://openalex.org/I1326254912"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5062228025"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":1.2033,"has_fulltext":true,"cited_by_count":34,"citation_normalized_percentile":{"value":0.76715872,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"8","issue":"11","first_page":"884","last_page":"894"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.18379999697208405,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.18379999697208405,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.13130000233650208,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.10779999941587448,"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/point-mutation-detection","display_name":"point mutation detection","score":0.7599999904632568},{"id":"https://openalex.org/keywords/two-color-microarrays","display_name":"two-color microarrays","score":0.6700000166893005},{"id":"https://openalex.org/keywords/single-stranded-dna-templates","display_name":"single-stranded DNA templates","score":0.5630000233650208},{"id":"https://openalex.org/keywords/dna-fingerprinting","display_name":"DNA fingerprinting","score":0.5640000104904175},{"id":"https://openalex.org/keywords/polymorphism-analysis","display_name":"polymorphism analysis","score":0.49399998784065247}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5987278819084167},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5713046789169312},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.51396244764328},{"id":"https://openalex.org/C129312508","wikidata":"https://www.wikidata.org/wiki/Q133686","display_name":"Oligonucleotide","level":3,"score":0.5095579624176025},{"id":"https://openalex.org/C2777563447","wikidata":"https://www.wikidata.org/wiki/Q7243397","display_name":"Primer (cosmetics)","level":2,"score":0.48824742436408997},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.4834659695625305},{"id":"https://openalex.org/C194857396","wikidata":"https://www.wikidata.org/wiki/Q382878","display_name":"Primer extension","level":4,"score":0.47537460923194885},{"id":"https://openalex.org/C178046730","wikidata":"https://www.wikidata.org/wiki/Q331824","display_name":"Terminator (solar)","level":3,"score":0.45023733377456665},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.44152742624282837},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4128812849521637},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.334736168384552},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2812104821205139},{"id":"https://openalex.org/C3017666073","wikidata":"https://www.wikidata.org/wiki/Q1764062","display_name":"Base sequence","level":3,"score":0.15604987740516663},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.1521466076374054},{"id":"https://openalex.org/C116403925","wikidata":"https://www.wikidata.org/wiki/Q162219","display_name":"Ionosphere","level":2,"score":0.0},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C1276947","wikidata":"https://www.wikidata.org/wiki/Q333","display_name":"Astronomy","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002232","descriptor_name":"Carbocyanines","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D005456","descriptor_name":"Fluorescent Dyes","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015342","descriptor_name":"DNA Probes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015342","descriptor_name":"DNA Probes","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/sj.ejhg.5200558","doi":"https://doi.org/10.1038/sj.ejhg.5200558","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5200558","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:11093279","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11093279","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/502604","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/502604","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G5327770906","display_name":null,"funder_award_id":"P30-HG00425","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G8976562667","display_name":"COMPREHENSIVE SICKLE CELL CENTER","funder_award_id":"P60HL038632","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320313557","display_name":"Nemours Foundation","ror":"https://ror.org/01mzw6m29"},{"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/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W72492867","https://openalex.org/W1562221129","https://openalex.org/W1589411629","https://openalex.org/W1925142648","https://openalex.org/W1974960276","https://openalex.org/W1978208924","https://openalex.org/W1987739795","https://openalex.org/W1991267989","https://openalex.org/W1994718834","https://openalex.org/W2001590540","https://openalex.org/W2004667819","https://openalex.org/W2008226460","https://openalex.org/W2017589523","https://openalex.org/W2026710381","https://openalex.org/W2031928161","https://openalex.org/W2032119463","https://openalex.org/W2042443618","https://openalex.org/W2049280274","https://openalex.org/W2063005653","https://openalex.org/W2082685728","https://openalex.org/W2091619273","https://openalex.org/W2100095605","https://openalex.org/W2105025553","https://openalex.org/W2107691596","https://openalex.org/W2109056556","https://openalex.org/W2116944848","https://openalex.org/W2119166302","https://openalex.org/W2127082697","https://openalex.org/W2130974514","https://openalex.org/W2137743001","https://openalex.org/W2144345532","https://openalex.org/W2156021383","https://openalex.org/W2160524963","https://openalex.org/W2162426408","https://openalex.org/W2484973227","https://openalex.org/W4230538884"],"related_works":["https://openalex.org/W2162426408","https://openalex.org/W2065229597","https://openalex.org/W2116188702","https://openalex.org/W2122878782","https://openalex.org/W2008278543","https://openalex.org/W2001590540","https://openalex.org/W2127082697","https://openalex.org/W2113855157","https://openalex.org/W2091619273","https://openalex.org/W2126876840"],"abstract_inverted_index":null,"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}