{"id":"https://openalex.org/W2017589523","doi":"https://doi.org/10.1038/sj.ejhg.5200218","title":"Parallel molecular genetic analysis","display_name":"Parallel molecular genetic analysis","publication_year":1998,"publication_date":"1998-09-01","ids":{"openalex":"https://openalex.org/W2017589523","doi":"https://doi.org/10.1038/sj.ejhg.5200218","mag":"2017589523","pmid":"https://pubmed.ncbi.nlm.nih.gov/9801865"},"language":"en","primary_location":{"id":"doi:10.1038/sj.ejhg.5200218","doi":"https://doi.org/10.1038/sj.ejhg.5200218","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5200218","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":"review","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/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"]},{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven E McKenzie","raw_affiliation_strings":["Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA","Department of Pediatrics, Thomas Jefferson University and the du Pont Hospital for Children, Wilmington, DE, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I149251103"]},{"raw_affiliation_string":"Department of Pediatrics, Thomas Jefferson University and the du Pont Hospital for Children, Wilmington, DE, Philadelphia, PA","institution_ids":["https://openalex.org/I1326254912","https://openalex.org/I149251103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110598613","display_name":"Elaine S. Mansfield","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210136125","display_name":"Diazyme (United States)","ror":"https://ror.org/0384gj524","country_code":"US","type":"company","lineage":["https://openalex.org/I4210136125"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elaine Mansfield","raw_affiliation_strings":["DiaDexus, 3303 Octavius Drive, Sante Clara, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"DiaDexus, 3303 Octavius Drive, Sante Clara, CA, USA","institution_ids":["https://openalex.org/I4210136125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109345826","display_name":"Eric F. Rappaport","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":"Eric Rappaport","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","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"]},{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Saul Surrey","raw_affiliation_strings":["Department of Pediatrics, Thomas Jefferson University and the du Pont Hospital for Children, Wilmington, DE, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Thomas Jefferson University and the du Pont Hospital for Children, Wilmington, DE, Philadelphia, PA","institution_ids":["https://openalex.org/I1326254912","https://openalex.org/I149251103"]}]},{"author_position":"last","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, Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"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":0.3009,"has_fulltext":true,"cited_by_count":42,"citation_normalized_percentile":{"value":0.3612453,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"6","issue":"5","first_page":"417","last_page":"429"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10885","display_name":"Gene expression and cancer classification","score":0.4180000126361847,"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/T10885","display_name":"Gene expression and cancer classification","score":0.4180000126361847,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.12210000306367874,"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/T10412","display_name":"Microfluidic and Capillary Electrophoresis Applications","score":0.0966000035405159,"subfield":{"id":"https://openalex.org/subfields/2204","display_name":"Biomedical Engineering"},"field":{"id":"https://openalex.org/fields/22","display_name":"Engineering"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dna-microarrays","display_name":"DNA microarrays","score":0.9950000047683716},{"id":"https://openalex.org/keywords/capillary-electrophoresis","display_name":"capillary electrophoresis","score":0.796999990940094},{"id":"https://openalex.org/keywords/sequencing-by-hybridization","display_name":"sequencing by hybridization","score":0.8679999709129333},{"id":"https://openalex.org/keywords/comparative-genomic-hybridization","display_name":"comparative genomic hybridization","score":0.9240000247955322},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.9919999837875366},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.5730000138282776},{"id":"https://openalex.org/keywords/disease-associated-loci","display_name":"disease-associated loci","score":0.8629999756813049},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.9549999833106995},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.5590000152587891},{"id":"https://openalex.org/keywords/genotyping","display_name":"genotyping","score":0.675000011920929},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.6940000057220459},{"id":"https://openalex.org/keywords/gene-expression-profiling","display_name":"gene expression profiling","score":0.7929999828338623},{"id":"https://openalex.org/keywords/technology-selection","display_name":"technology selection","score":0.671999990940094}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6458898186683655},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6279948949813843},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.6104640960693359},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.5509478449821472},{"id":"https://openalex.org/C129312508","wikidata":"https://www.wikidata.org/wiki/Q133686","display_name":"Oligonucleotide","level":3,"score":0.5205267667770386},{"id":"https://openalex.org/C179786068","wikidata":"https://www.wikidata.org/wiki/Q16257937","display_name":"Molecular diagnostics","level":2,"score":0.5089967250823975},{"id":"https://openalex.org/C2900643","wikidata":"https://www.wikidata.org/wiki/Q747468","display_name":"Capillary electrophoresis","level":2,"score":0.47795963287353516},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46909937262535095},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.467002272605896},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4350769519805908},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.41140252351760864},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39299502968788147},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3137248158454895},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.21954938769340515},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.13237515091896057}],"mesh":[{"descriptor_ui":"D004247","descriptor_name":"DNA","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008967","descriptor_name":"Molecular Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019075","descriptor_name":"Electrophoresis, Capillary","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/sj.ejhg.5200218","doi":"https://doi.org/10.1038/sj.ejhg.5200218","is_oa":false,"landing_page_url":"https://doi.org/10.1038/sj.ejhg.5200218","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:9801865","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9801865","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:11573/502698","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/502698","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":[{"display_name":"Peace, justice, and strong institutions","id":"https://metadata.un.org/sdg/16","score":0.5299999713897705}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1066022508","display_name":null,"funder_award_id":"R01-DK16691","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"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/G659976532","display_name":"HEME AND GLOBIN SYNTHESIS IN INFANTS AND CHILDREN","funder_award_id":"5r01dk016691-22","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"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"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":113,"referenced_works":["https://openalex.org/W23071274","https://openalex.org/W84796980","https://openalex.org/W130213130","https://openalex.org/W1484147589","https://openalex.org/W1533695726","https://openalex.org/W1593794455","https://openalex.org/W1925142648","https://openalex.org/W1964997792","https://openalex.org/W1965265115","https://openalex.org/W1968828650","https://openalex.org/W1970156673","https://openalex.org/W1972050725","https://openalex.org/W1974615246","https://openalex.org/W1974697038","https://openalex.org/W1975188059","https://openalex.org/W1975451609","https://openalex.org/W1976854792","https://openalex.org/W1979197188","https://openalex.org/W1980877885","https://openalex.org/W1984611504","https://openalex.org/W1985080632","https://openalex.org/W1985524501","https://openalex.org/W1985830439","https://openalex.org/W1988318122","https://openalex.org/W1989213310","https://openalex.org/W1990343281","https://openalex.org/W1991694882","https://openalex.org/W1994091239","https://openalex.org/W1994098923","https://openalex.org/W1997140189","https://openalex.org/W2001479907","https://openalex.org/W2002046224","https://openalex.org/W2002837417","https://openalex.org/W2012878989","https://openalex.org/W2016799976","https://openalex.org/W2017154320","https://openalex.org/W2018223808","https://openalex.org/W2018808127","https://openalex.org/W2021729201","https://openalex.org/W2022483739","https://openalex.org/W2025597030","https://openalex.org/W2025908269","https://openalex.org/W2025955921","https://openalex.org/W2026710381","https://openalex.org/W2027154897","https://openalex.org/W2030958510","https://openalex.org/W2036096884","https://openalex.org/W2037210205","https://openalex.org/W2037268137","https://openalex.org/W2037509330","https://openalex.org/W2037729914","https://openalex.org/W2038636949","https://openalex.org/W2040266948","https://openalex.org/W2042443618","https://openalex.org/W2042671300","https://openalex.org/W2043201861","https://openalex.org/W2044692125","https://openalex.org/W2046056761","https://openalex.org/W2046865524","https://openalex.org/W2047863749","https://openalex.org/W2054775952","https://openalex.org/W2054800650","https://openalex.org/W2055220279","https://openalex.org/W2056292544","https://openalex.org/W2059667789","https://openalex.org/W2060935559","https://openalex.org/W2062253025","https://openalex.org/W2063124307","https://openalex.org/W2064063117","https://openalex.org/W2066789848","https://openalex.org/W2069271664","https://openalex.org/W2069829737","https://openalex.org/W2075671136","https://openalex.org/W2077536709","https://openalex.org/W2079501979","https://openalex.org/W2083687175","https://openalex.org/W2084736891","https://openalex.org/W2103170384","https://openalex.org/W2107691596","https://openalex.org/W2108638990","https://openalex.org/W2111862764","https://openalex.org/W2122501908","https://openalex.org/W2122550410","https://openalex.org/W2126024920","https://openalex.org/W2127082697","https://openalex.org/W2130974514","https://openalex.org/W2130995160","https://openalex.org/W2132993311","https://openalex.org/W2134394930","https://openalex.org/W2137164567","https://openalex.org/W2139814080","https://openalex.org/W2159511216","https://openalex.org/W2159797388","https://openalex.org/W2160006021","https://openalex.org/W2161893150","https://openalex.org/W2162005159","https://openalex.org/W2162426408","https://openalex.org/W2170828133","https://openalex.org/W2292835948","https://openalex.org/W2406032486","https://openalex.org/W2411413706","https://openalex.org/W2418458617","https://openalex.org/W2420459700","https://openalex.org/W2484973227","https://openalex.org/W3082689487","https://openalex.org/W4213387068","https://openalex.org/W4241328203","https://openalex.org/W4247420482","https://openalex.org/W4249877820","https://openalex.org/W4251568637","https://openalex.org/W4254533614","https://openalex.org/W4256207726","https://openalex.org/W4300639954"],"related_works":["https://openalex.org/W4255277909","https://openalex.org/W124704790","https://openalex.org/W1667619836","https://openalex.org/W2089769517","https://openalex.org/W4205458868","https://openalex.org/W4231253105","https://openalex.org/W4233856701","https://openalex.org/W4232558415","https://openalex.org/W2187351140","https://openalex.org/W2068227276"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
