{"id":"https://openalex.org/W2041663954","doi":"https://doi.org/10.1086/342380","title":"Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin","display_name":"Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin","publication_year":2002,"publication_date":"2002-09-01","ids":{"openalex":"https://openalex.org/W2041663954","doi":"https://doi.org/10.1086/342380","mag":"2041663954","pmid":"https://pubmed.ncbi.nlm.nih.gov/12145747","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/379188"},"language":"en","primary_location":{"id":"doi:10.1086/342380","doi":"https://doi.org/10.1086/342380","is_oa":true,"landing_page_url":"https://doi.org/10.1086/342380","pdf_url":"http://www.cell.com/article/S0002929707603309/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0002929707603309/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020364406","display_name":"Peter Hackman","orcid":"https://orcid.org/0000-0001-7890-5713","observed_orcids":["https://orcid.org/0000-0001-7890-5713"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Peter Hackman","raw_affiliation_strings":["Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki, Finland","Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]},{"raw_affiliation_string":"Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085975872","display_name":"Anna Vihola","orcid":"https://orcid.org/0000-0001-9249-8480","observed_orcids":["https://orcid.org/0000-0001-9249-8480"]},"institutions":[{"id":"https://openalex.org/I4210103236","display_name":"Vaasa Central Hospital","ror":"https://ror.org/019xaj585","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210103236"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Anna Vihola","raw_affiliation_strings":["Department of Neurology, Vasa Central Hospital, Vasa, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Vasa Central Hospital, Vasa, Finland","institution_ids":["https://openalex.org/I4210103236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076160927","display_name":"Henna Haravuori","orcid":"https://orcid.org/0000-0002-4080-7779","observed_orcids":["https://orcid.org/0000-0002-4080-7779"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Henna Haravuori","raw_affiliation_strings":["Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113642828","display_name":"Sylvie Marchand","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvie Marchand","raw_affiliation_strings":["G\u00e9n\u00e9thon, \u00c9vry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, \u00c9vry, France","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063413907","display_name":"Jaakko Sarparanta","orcid":"https://orcid.org/0000-0002-5497-5255","observed_orcids":["https://orcid.org/0000-0002-5497-5255"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Jaakko Sarparanta","raw_affiliation_strings":["Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics and The Folkh\u00e4lsan Institute of Genetics, University of Helsinki, Helsinki","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011213325","display_name":"Jerome De Seze","orcid":"https://orcid.org/0000-0002-7197-7578","observed_orcids":["https://orcid.org/0000-0002-7197-7578"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jerome de Seze","raw_affiliation_strings":["Department of Neurology, Centre Hospitalier Regional Universitaire de Lille, Lille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Centre Hospitalier Regional Universitaire de Lille, Lille, France","institution_ids":["https://openalex.org/I3018718406"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044599389","display_name":"Siegfried Labeit","orcid":"https://orcid.org/0000-0002-9009-210X","observed_orcids":["https://orcid.org/0000-0002-9009-210X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Siegfried Labeit","raw_affiliation_strings":["Department of Anesthesiology, Klinikum Mannheim, Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Klinikum Mannheim, Mannheim, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010210013","display_name":"Christian C. Witt","orcid":"https://orcid.org/0000-0002-3068-025X","observed_orcids":["https://orcid.org/0000-0002-3068-025X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christian Witt","raw_affiliation_strings":["Department of Anesthesiology, Klinikum Mannheim, Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, Klinikum Mannheim, Mannheim, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008612982","display_name":"Leena Peltonen","orcid":"https://orcid.org/0000-0002-6651-2792","observed_orcids":["https://orcid.org/0000-0002-6651-2792"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leena Peltonen","raw_affiliation_strings":["Department of Human Genetics, University of California, Los Angeles","Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of California, Los Angeles","institution_ids":["https://openalex.org/I161318765"]},{"raw_affiliation_string":"Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003741257","display_name":"Isabelle Richard","orcid":"https://orcid.org/0000-0002-6505-446X","observed_orcids":["https://orcid.org/0000-0002-6505-446X","https://orcid.org/0000-0002-8025-5200"]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Richard","raw_affiliation_strings":["G\u00e9n\u00e9thon, \u00c9vry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, \u00c9vry, France","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5083733794","display_name":"Bjarne Udd","orcid":"https://orcid.org/0000-0002-1101-9730","observed_orcids":["https://orcid.org/0000-0002-1101-9730"]},"institutions":[{"id":"https://openalex.org/I4210103236","display_name":"Vaasa Central Hospital","ror":"https://ror.org/019xaj585","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210103236"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"Bjarne Udd","raw_affiliation_strings":["Department of Neurology, Vasa Central Hospital, Vasa, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Vasa Central Hospital, Vasa, Finland","institution_ids":["https://openalex.org/I4210103236"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5083733794"],"corresponding_institution_ids":["https://openalex.org/I4210103236"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":6.2144,"has_fulltext":false,"cited_by_count":473,"citation_normalized_percentile":{"value":0.9790919,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"71","issue":"3","first_page":"492","last_page":"500"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9854000210762024,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.9854000210762024,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.006899999920278788,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00570000009611249,"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/tibial-muscular-dystrophy","display_name":"tibial muscular dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/titinopathy","display_name":"titinopathy","score":0.9810000061988831},{"id":"https://openalex.org/keywords/ttn-gene","display_name":"TTN gene","score":0.8140000104904175},{"id":"https://openalex.org/keywords/titin","display_name":"titin","score":0.9340000152587891},{"id":"https://openalex.org/keywords/distal-myopathy","display_name":"distal myopathy","score":0.8450000286102295},{"id":"https://openalex.org/keywords/late-onset-myopathy","display_name":"late-onset myopathy","score":0.628000020980835},{"id":"https://openalex.org/keywords/finnish-patients","display_name":"Finnish patients","score":0.6579999923706055},{"id":"https://openalex.org/keywords/finnish-families","display_name":"Finnish families","score":0.31200000643730164},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.45399999618530273}],"concepts":[{"id":"https://openalex.org/C90671521","wikidata":"https://www.wikidata.org/wiki/Q74314","display_name":"Titin","level":4,"score":0.991196870803833},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.7004519701004028},{"id":"https://openalex.org/C37140074","wikidata":"https://www.wikidata.org/wiki/Q18047361","display_name":"Obscurin","level":5,"score":0.6581873297691345},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6003149151802063},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5655937790870667},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.491898775100708},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42087942361831665},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.38179904222488403},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3728463649749756},{"id":"https://openalex.org/C68731436","wikidata":"https://www.wikidata.org/wiki/Q1337087","display_name":"Sarcomere","level":3,"score":0.2870793044567108},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.16353297233581543},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.11534562706947327}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000939","descriptor_name":"Epitopes","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005387","descriptor_name":"Finland","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005602","descriptor_name":"France","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011485","descriptor_name":"Protein Binding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064211","descriptor_name":"Connectin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1086/342380","doi":"https://doi.org/10.1086/342380","is_oa":true,"landing_page_url":"https://doi.org/10.1086/342380","pdf_url":"http://www.cell.com/article/S0002929707603309/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:379188","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/379188","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:12145747","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12145747","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.655.1624","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.655.1624","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379188/pdf/AJHGv71p492.pdf","raw_type":"text"},{"id":"pmh:oai:HAL:hal-05795431v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-05795431","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 2002, 71 (3), pp.492-500. &#x27E8;10.1086/342380&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.julkari.fi:10024/81631","doi":null,"is_oa":false,"landing_page_url":"http://www.julkari.fi/handle/10024/81631","pdf_url":null,"source":{"id":"https://openalex.org/S4306402058","display_name":"STM:n Hallinnonalan avoin julkaisuarkisto (Julkari)","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":"","raw_type":"A"}],"best_oa_location":{"id":"doi:10.1086/342380","doi":"https://doi.org/10.1086/342380","is_oa":true,"landing_page_url":"https://doi.org/10.1086/342380","pdf_url":"http://www.cell.com/article/S0002929707603309/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320311810","display_name":"Maud Kuistilan Muistos\u00e4\u00e4ti\u00f6","ror":"https://ror.org/05xs6nw18"},{"id":"https://openalex.org/F4320321726","display_name":"Suomen Kulttuurirahasto","ror":"https://ror.org/027xav248"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W2041663954.pdf"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W102016573","https://openalex.org/W138857909","https://openalex.org/W251556984","https://openalex.org/W1484166075","https://openalex.org/W1774689153","https://openalex.org/W1815860013","https://openalex.org/W1969450103","https://openalex.org/W1977378217","https://openalex.org/W1981246063","https://openalex.org/W1988840538","https://openalex.org/W1990126044","https://openalex.org/W1991524483","https://openalex.org/W1994304154","https://openalex.org/W2000676318","https://openalex.org/W2004077739","https://openalex.org/W2019565027","https://openalex.org/W2021469711","https://openalex.org/W2024993897","https://openalex.org/W2036665198","https://openalex.org/W2047883731","https://openalex.org/W2050674776","https://openalex.org/W2056166604","https://openalex.org/W2058229969","https://openalex.org/W2075300119","https://openalex.org/W2084087656","https://openalex.org/W2086237869","https://openalex.org/W2089541731","https://openalex.org/W2091831926","https://openalex.org/W2092436786","https://openalex.org/W2100143162","https://openalex.org/W2104627343","https://openalex.org/W2110828143","https://openalex.org/W2122703252","https://openalex.org/W2133145432","https://openalex.org/W2136243484","https://openalex.org/W2139796802","https://openalex.org/W2150991944","https://openalex.org/W2154214785","https://openalex.org/W2158714788","https://openalex.org/W2162075759","https://openalex.org/W2167033587","https://openalex.org/W4246640865"],"related_works":["https://openalex.org/W7096266732","https://openalex.org/W1974395755","https://openalex.org/W1979048794","https://openalex.org/W2004077739","https://openalex.org/W7015820217","https://openalex.org/W2008986173","https://openalex.org/W1963610754","https://openalex.org/W1991524483","https://openalex.org/W2947506235","https://openalex.org/W1998703241"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":19},{"year":2024,"cited_by_count":26},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":19},{"year":2021,"cited_by_count":21},{"year":2020,"cited_by_count":23},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":16},{"year":2017,"cited_by_count":23},{"year":2016,"cited_by_count":20},{"year":2015,"cited_by_count":18},{"year":2014,"cited_by_count":20},{"year":2013,"cited_by_count":24},{"year":2012,"cited_by_count":24}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
