{"id":"https://openalex.org/W2199058166","doi":"https://doi.org/10.1093/hmg/ddv463","title":"A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis","display_name":"A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis","publication_year":2015,"publication_date":"2015-11-12","ids":{"openalex":"https://openalex.org/W2199058166","doi":"https://doi.org/10.1093/hmg/ddv463","mag":"2199058166","pmid":"https://pubmed.ncbi.nlm.nih.gov/26566670","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4690498"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddv463","doi":"https://doi.org/10.1093/hmg/ddv463","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddv463","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4690498","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029132061","display_name":"Gabe Haller","orcid":"https://orcid.org/0000-0002-3884-5776","observed_orcids":["https://orcid.org/0000-0002-3884-5776"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gabe Haller","raw_affiliation_strings":["Department of Orthopaedic Surgery"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088483150","display_name":"David M. Alvarado","orcid":"https://orcid.org/0000-0001-8748-0761","observed_orcids":["https://orcid.org/0000-0001-8748-0761"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"David Alvarado","raw_affiliation_strings":["Department of Orthopaedic Surgery"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002887900","display_name":"Kevin McCall","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kevin Mccall","raw_affiliation_strings":["Department of Orthopaedic Surgery"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100698748","display_name":"Ping Yang","orcid":"https://orcid.org/0000-0002-0811-7989","observed_orcids":["https://orcid.org/0000-0002-0811-7989"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ping Yang","raw_affiliation_strings":["Department of Orthopaedic Surgery"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040490170","display_name":"Carlos Cruchaga","orcid":"https://orcid.org/0000-0002-0276-2899","observed_orcids":["https://orcid.org/0000-0002-0276-2899","https://orcid.org/0000-0002-5261-689X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carlos Cruchaga","raw_affiliation_strings":["Department of Psychiatry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112751774","display_name":"Matthew B. Harms","orcid":"https://orcid.org/0000-0002-3395-1633","observed_orcids":["https://orcid.org/0000-0002-3395-1633"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matthew Harms","raw_affiliation_strings":["Department of Neurology, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090202716","display_name":"Alison Goate","orcid":"https://orcid.org/0000-0002-0576-2472","observed_orcids":["https://orcid.org/0000-0002-0576-2472"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alison Goate","raw_affiliation_strings":["Department of Psychiatry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110899461","display_name":"Marcia C. Willing","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marcia Willing","raw_affiliation_strings":["Department of Pediatrics, Washington University, St Louis, MO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Washington University, St Louis, MO, USA","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071271125","display_name":"Jose Antonio Morcuende","orcid":"https://orcid.org/0000-0002-0688-085X","observed_orcids":["https://orcid.org/0000-0002-0688-085X"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jose A. Morcuende","raw_affiliation_strings":["Department of Orthopaedics and Rehabilitation, University of Iowa, Iowa City, IA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedics and Rehabilitation, University of Iowa, Iowa City, IA, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055667747","display_name":"Erin E. Baschal","orcid":"https://orcid.org/0000-0002-8936-434X","observed_orcids":["https://orcid.org/0000-0002-8936-434X"]},"institutions":[{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Baschal","raw_affiliation_strings":["Department of Orthopaedic Surgery, University of Colorado, Denver, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery, University of Colorado, Denver, CO, USA","institution_ids":["https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083710097","display_name":"Nancy Hadley Miller","orcid":"https://orcid.org/0000-0002-8107-3943","observed_orcids":["https://orcid.org/0000-0002-8107-3943"]},"institutions":[{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nancy H. Miller","raw_affiliation_strings":["Department of Orthopaedic Surgery, University of Colorado, Denver, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery, University of Colorado, Denver, CO, USA","institution_ids":["https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063635497","display_name":"Carol A. Wise","orcid":"https://orcid.org/0000-0002-6790-2194","observed_orcids":["https://orcid.org/0000-0002-6790-2194"]},"institutions":[{"id":"https://openalex.org/I2802862759","display_name":"Texas Scottish Rite Hospital for Children","ror":"https://ror.org/03gd5jm66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2802862759"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carol Wise","raw_affiliation_strings":["Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA, Department of Orthopaedic Surgery, Department of Pediatrics, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA and","Department of Orthopaedic Surgery,","Department of Pediatrics,","McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA and","Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA, Department of Orthopaedic Surgery, Department of Pediatrics, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA and","institution_ids":["https://openalex.org/I2802862759","https://openalex.org/I867280407"]},{"raw_affiliation_string":"Department of Orthopaedic Surgery,","institution_ids":[]},{"raw_affiliation_string":"Department of Pediatrics,","institution_ids":[]},{"raw_affiliation_string":"McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA and","institution_ids":["https://openalex.org/I867280407"]},{"raw_affiliation_string":"Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA,","institution_ids":["https://openalex.org/I2802862759"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068088727","display_name":"Matthew B. Dobbs","orcid":"https://orcid.org/0000-0002-1506-9962","observed_orcids":["https://orcid.org/0000-0002-1506-9962"]},"institutions":[{"id":"https://openalex.org/I4210158667","display_name":"Shriners Hospitals for Children - St. Louis","ror":"https://ror.org/049mpkx27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210144267","https://openalex.org/I4210158667"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew B. Dobbs","raw_affiliation_strings":["Department of Orthopaedic Surgery, Shriners Hospital for Children, St Louis, MO, USA","Department of Orthopaedic Surgery,","Shriners Hospital for Children, St Louis, MO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery, Shriners Hospital for Children, St Louis, MO, USA","institution_ids":["https://openalex.org/I4210158667"]},{"raw_affiliation_string":"Department of Orthopaedic Surgery,","institution_ids":[]},{"raw_affiliation_string":"Shriners Hospital for Children, St Louis, MO, USA","institution_ids":["https://openalex.org/I4210158667"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087886690","display_name":"Christina A. Gurnett","orcid":"https://orcid.org/0000-0001-9129-315X","observed_orcids":["https://orcid.org/0000-0001-9129-315X"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Christina A. Gurnett","raw_affiliation_strings":["Department of Orthopaedic Surgery, Department of Neurology, and Department of Pediatrics, Washington University, St Louis, MO, USA, gurnettc@neuro.wustl.edu","Department of Neurology, and","Department of Orthopaedic Surgery,","Department of Pediatrics, Washington University, St Louis, MO, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopaedic Surgery, Department of Neurology, and Department of Pediatrics, Washington University, St Louis, MO, USA, gurnettc@neuro.wustl.edu","institution_ids":["https://openalex.org/I204465549"]},{"raw_affiliation_string":"Department of Neurology, and","institution_ids":[]},{"raw_affiliation_string":"Department of Orthopaedic Surgery,","institution_ids":[]},{"raw_affiliation_string":"Department of Pediatrics, Washington University, St Louis, MO, USA,","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5087886690"],"corresponding_institution_ids":["https://openalex.org/I204465549"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":8.0146,"has_fulltext":false,"cited_by_count":93,"citation_normalized_percentile":{"value":0.97993004,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"25","issue":"1","first_page":"202","last_page":"209"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11030","display_name":"Scoliosis diagnosis and treatment","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11030","display_name":"Scoliosis diagnosis and treatment","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11310","display_name":"Connective tissue disorders research","score":0.0012000000569969416,"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/T12830","display_name":"Pectus Deformity Diagnosis and Treatment","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/adolescent-idiopathic-scoliosis","display_name":"adolescent idiopathic scoliosis","score":1.0},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.8259999752044678},{"id":"https://openalex.org/keywords/extracellular-matrix-genes","display_name":"extracellular matrix genes","score":0.9179999828338623},{"id":"https://openalex.org/keywords/collagen-genes","display_name":"collagen genes","score":0.9470000267028809},{"id":"https://openalex.org/keywords/col11a2","display_name":"COL11A2","score":0.9779999852180481},{"id":"https://openalex.org/keywords/non-synonymous-variants","display_name":"non-synonymous variants","score":0.8519999980926514},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.828000009059906},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7990000247955322},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.6349999904632568},{"id":"https://openalex.org/keywords/polygenic-risk","display_name":"polygenic risk","score":0.5410000085830688},{"id":"https://openalex.org/keywords/spinal-deformity","display_name":"spinal deformity","score":0.5509999990463257}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7071632146835327},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6721480488777161},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6400414705276489},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5997734069824219},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5701506733894348},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.519189715385437},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4540884494781494},{"id":"https://openalex.org/C146304588","wikidata":"https://www.wikidata.org/wiki/Q961652","display_name":"Case-control study","level":2,"score":0.4363607168197632},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.42707210779190063},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.41257938742637634},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3483855128288269},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.280364453792572},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.22729024291038513},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2216220200061798},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.192917138338089},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18469470739364624},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16680487990379333}],"mesh":[{"descriptor_ui":"D003094","descriptor_name":"Collagen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005109","descriptor_name":"Extracellular Matrix","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007738","descriptor_name":"Kyphosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012600","descriptor_name":"Scoliosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/hmg/ddv463","doi":"https://doi.org/10.1093/hmg/ddv463","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddv463","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4690498","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4690498","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":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:26566670","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26566670","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":"Human molecular genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4690498","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4690498","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":"Hum Mol Genet","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1019374866","display_name":null,"funder_award_id":"HL 102923","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1295399","display_name":"Identifying Rare Variants that Increase Risk for Alzheimer's Disease","funder_award_id":"RF1AG044546","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G140944187","display_name":null,"funder_award_id":"HL-102924","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1704182483","display_name":null,"funder_award_id":"1S10RR022984-01A1","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G2032172404","display_name":null,"funder_award_id":"HL-102925","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G4488123606","display_name":"HIGH PERFORMANCE BIOMEDICAL IMAGING COMPUTER RESOURCES","funder_award_id":"1s10rr022984-01a1","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G475171617","display_name":null,"funder_award_id":"HL 103010","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G515750701","display_name":"Use of Endophenotypes in the Search for Alzheimer's Disease Risk Genes","funder_award_id":"R01AG035083","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5452852055","display_name":"WASHINGTON UNIVERSITY INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH CENTER","funder_award_id":"U54HD087011","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5853261428","display_name":"Colorado Clinical and Translational Sciences Institute","funder_award_id":"UL1TR001082","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G725115302","display_name":"Washington University Institute of Clinical and Translational Sciences","funder_award_id":"UL1TR000448","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7582279738","display_name":"Genetic risk factors for severe scoliosis","funder_award_id":"R01AR067715","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G7870180514","display_name":"Washington University Institute of Clinical and Translational Sciences (UL1)","funder_award_id":"UL1RR024992","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G7896056998","display_name":"Washington University Institute of Clinical and Translational Sciences","funder_award_id":"TL1TR000449","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8287046329","display_name":"GPU COMPUTING RESOURCE TO ENABLE INNOVATION IN IMAGING AND NETWORK BIOLOGY","funder_award_id":"1s10od018091-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G843766559","display_name":null,"funder_award_id":"HL-102926","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8814892490","display_name":"Identification of Genetic Susceptibility in Adolescent Idiopathic Scoliosis","funder_award_id":"R01HD052973","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000310870","display_name":null,"funder_award_id":"R01-AG044546, R01-AG035083","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000874565","display_name":"Pediatric Gastroenterology Research Training Program","funder_award_id":"T32DK077653","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G9000907135","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA091842","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W204922522","https://openalex.org/W1506369629","https://openalex.org/W1527344164","https://openalex.org/W1955777007","https://openalex.org/W1956242568","https://openalex.org/W1970618192","https://openalex.org/W1973878786","https://openalex.org/W1979773486","https://openalex.org/W1982700114","https://openalex.org/W1987891430","https://openalex.org/W2017309660","https://openalex.org/W2027315680","https://openalex.org/W2056219162","https://openalex.org/W2103695168","https://openalex.org/W2108234281","https://openalex.org/W2136228721","https://openalex.org/W2136982832","https://openalex.org/W2140114390","https://openalex.org/W2149992227","https://openalex.org/W2152750261","https://openalex.org/W2154134138","https://openalex.org/W2155302824","https://openalex.org/W2156684195","https://openalex.org/W2157752701","https://openalex.org/W2160075959","https://openalex.org/W2161271012","https://openalex.org/W2164389373","https://openalex.org/W2165327863","https://openalex.org/W2303043072","https://openalex.org/W2317169580"],"related_works":["https://openalex.org/W3168196462","https://openalex.org/W7222178123","https://openalex.org/W2165327863","https://openalex.org/W4406887094","https://openalex.org/W4396773947","https://openalex.org/W4313245110","https://openalex.org/W4200553853","https://openalex.org/W4409974986","https://openalex.org/W3023407384","https://openalex.org/W4285799468"],"abstract_inverted_index":{"Adolescent":[0],"idiopathic":[1],"scoliosis":[2],"(AIS)":[3],"is":[4],"a":[5,26,59,171,210,218],"complex":[6,211],"inherited":[7],"spinal":[8],"deformity":[9],"whose":[10],"etiology":[11],"has":[12],"been":[13],"elusive.":[14],"While":[15],"common":[16],"genetic":[17,212],"variants":[18,38,65,80,107,223],"are":[19,66],"associated":[20],"with":[21,92,121,176],"AIS,":[22],"they":[23],"explain":[24],"only":[25],"small":[27],"portion":[28],"of":[29,36,45,53,117,124,130,146,202,214,221],"disease":[30],"risk.":[31,231],"To":[32],"explore":[33],"the":[34,70,199],"role":[35],"rare":[37,222],"in":[39,63,81,88,108,114,153,216],"AIS":[40,48,89,118,156,190,215],"susceptibility,":[41],"exome":[42],"sequence":[43],"data":[44],"391":[46],"severe":[47],"cases":[49,90,119,157,191],"and":[50,127,169,197],"843":[51],"controls":[52,93,126,132],"European":[54],"ancestry":[55],"were":[56,85,112],"analyzed":[57],"using":[58],"pathway":[60],"burden":[61,220],"analysis":[62],"which":[64,217],"first":[67],"collapsed":[68],"at":[69],"gene":[71],"level":[72],"then":[73],"by":[74],"Gene":[75],"Ontology":[76],"terms.":[77],"Novel":[78],"non-synonymous/splice-site":[79],"extracellular":[82,225],"matrix":[83,226],"genes":[84,111,149,227],"significantly":[86],"enriched":[87],"compared":[91,120],"(P":[94,133,158,178],"=":[95,100,103,134,139,142,159,164,167,179,184,187],"6":[96,180],"\u00d7":[97,136,161,181],"10(-9),":[98,137,182],"OR":[99,138,163,183],"1.7,":[101],"CI":[102,141,166,186],"1.4-2.0).":[104],"Specifically,":[105],"novel":[106],"musculoskeletal":[109,204],"collagen":[110,148],"present":[113],"32%":[115],"(126/391)":[116],"17%":[122],"(146/843)":[123],"in-house":[125],"18%":[128],"(780/4300)":[129],"EVS":[131],"1":[135],"1.9,":[140],"1.6-2.4).":[143],"Targeted":[144],"resequencing":[145],"six":[147],"replicated":[150],"this":[151],"association":[152,175],"combined":[154],"919":[155],"3":[160],"10(-12),":[162],"2.2,":[165],"1.8-2.7)":[168],"revealed":[170],"highly":[172],"significant":[173],"single-gene":[174],"COL11A2":[177],"3.8,":[185],"2.6-7.2).":[188],"Importantly,":[189],"harbor":[192],"mainly":[193],"non-glycine":[194],"missense":[195],"mutations":[196],"lack":[198],"clinical":[200],"features":[201],"monogenic":[203],"collagenopathies.":[205],"Overall,":[206],"our":[207],"study":[208],"reveals":[209],"architecture":[213],"polygenic":[219],"across":[224],"contributes":[228],"strongly":[229],"to":[230]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":13},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":11},{"year":2016,"cited_by_count":4}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}