{"id":"https://openalex.org/W1221461650","doi":"https://doi.org/10.1038/srep11380","title":"Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing","display_name":"Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing","publication_year":2015,"publication_date":"2015-06-16","ids":{"openalex":"https://openalex.org/W1221461650","doi":"https://doi.org/10.1038/srep11380","mag":"1221461650","pmid":"https://pubmed.ncbi.nlm.nih.gov/26077743","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4468422"},"language":"en","primary_location":{"id":"doi:10.1038/srep11380","doi":"https://doi.org/10.1038/srep11380","is_oa":true,"landing_page_url":"https://doi.org/10.1038/srep11380","pdf_url":"https://www.nature.com/articles/srep11380.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/srep11380.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113737530","display_name":"Liyuan Sun","orcid":"https://orcid.org/0009-0002-5498-591X","observed_orcids":["https://orcid.org/0009-0002-5498-591X","https://orcid.org/0009-0003-7113-3150"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210119028","display_name":"Beijing Anzhen Hospital","ror":"https://ror.org/02h2j1586","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119028"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Li-Yuan Sun","raw_affiliation_strings":["1] Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China [2] Beijing AnZhen Hospital, Affiliated to Capital Medical University, Department of Dermatology, Beijing 100029, China","Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","Beijing AnZhen Hospital, Department of Dermatology, Affiliated to Capital Medical University, Beijing, China","The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China [2] Beijing AnZhen Hospital, Affiliated to Capital Medical University, Department of Dermatology, Beijing 100029, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Department of Dermatology, Affiliated to Capital Medical University, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060315162","display_name":"Yong\u2010Biao Zhang","orcid":"https://orcid.org/0000-0002-2764-2148","observed_orcids":["https://orcid.org/0000-0002-2764-2148"]},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yong-Biao Zhang","raw_affiliation_strings":["Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China","Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I19820366"]},{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","institution_ids":["https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042184406","display_name":"Long Jiang","orcid":"https://orcid.org/0000-0002-1506-7385","observed_orcids":["https://orcid.org/0000-0002-1506-7385"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210119028","display_name":"Beijing Anzhen Hospital","ror":"https://ror.org/02h2j1586","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119028"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Long Jiang","raw_affiliation_strings":["Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ning Wan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ning Wan","raw_affiliation_strings":["1] Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China [2] University of Chinese Academy of Sciences, Beijing 100049, China","Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","University of Chinese Academy of Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China [2] University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","institution_ids":["https://openalex.org/I19820366"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences, Beijing, China","institution_ids":["https://openalex.org/I4210165038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102525801","display_name":"Wenfeng Wu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210119028","display_name":"Beijing Anzhen Hospital","ror":"https://ror.org/02h2j1586","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119028"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wen-Feng Wu","raw_affiliation_strings":["Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101805323","display_name":"Xiao-Dong Pan","orcid":"https://orcid.org/0000-0001-9810-8105","observed_orcids":["https://orcid.org/0000-0001-9810-8105"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210119028","display_name":"Beijing Anzhen Hospital","ror":"https://ror.org/02h2j1586","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119028"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao-Dong Pan","raw_affiliation_strings":["Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100728445","display_name":"Jun Myoung Yu","orcid":"https://orcid.org/0000-0002-2702-055X","observed_orcids":["https://orcid.org/0000-0002-2702-055X"]},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jun Yu","raw_affiliation_strings":["Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China","Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I19820366"]},{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","institution_ids":["https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100401324","display_name":"Feng Zhang","orcid":"https://orcid.org/0000-0003-2887-8184","observed_orcids":["https://orcid.org/0000-0003-2887-8184"]},"institutions":[{"id":"https://openalex.org/I184983240","display_name":"Northeast Normal University","ror":"https://ror.org/02rkvz144","country_code":"CN","type":"education","lineage":["https://openalex.org/I184983240"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Feng Zhang","raw_affiliation_strings":["1] Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China [2] National Engineering Laboratory for Druggable Gene and Protein Screening, Northeast Normal University, Changchun 130024, Jilin, China","Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","National Engineering Laboratory for Druggable Gene and Protein Screening, Northeast Normal University, Changchun, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China [2] National Engineering Laboratory for Druggable Gene and Protein Screening, Northeast Normal University, Changchun 130024, Jilin, China","institution_ids":["https://openalex.org/I184983240","https://openalex.org/I19820366"]},{"raw_affiliation_string":"Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing, China","institution_ids":["https://openalex.org/I19820366"]},{"raw_affiliation_string":"National Engineering Laboratory for Druggable Gene and Protein Screening, Northeast Normal University, Changchun, China","institution_ids":["https://openalex.org/I184983240"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5052149009","display_name":"Luya Wang","orcid":"https://orcid.org/0000-0001-6092-0720","observed_orcids":["https://orcid.org/0000-0001-6092-0720"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210119028","display_name":"Beijing Anzhen Hospital","ror":"https://ror.org/02h2j1586","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210119028"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Lu-Ya Wang","raw_affiliation_strings":["Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210119028"]},{"raw_affiliation_string":"The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5052149009","https://openalex.org/A5100401324"],"corresponding_institution_ids":["https://openalex.org/I183519381","https://openalex.org/I184983240","https://openalex.org/I19820366","https://openalex.org/I4210119028"],"apc_list":{"value":2690,"currency":"USD","value_usd":2690},"apc_paid":{"value":2690,"currency":"USD","value_usd":2690},"fwci":1.0934,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.76137247,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"5","issue":"1","first_page":"11380","last_page":"11380"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7681000232696533,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7681000232696533,"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.21170000731945038,"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/T13430","display_name":"Lipid metabolism and disorders","score":0.006200000178068876,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/ldl-receptor","display_name":"LDL receptor","score":0.7260000109672546},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.878000020980835},{"id":"https://openalex.org/keywords/novel-genetic-variants","display_name":"novel genetic variants","score":0.7620000243186951},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.6480000019073486},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.527999997138977},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.6809999942779541},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.3799999952316284}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8787425756454468},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8245750665664673},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7710722088813782},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6748572587966919},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6591287851333618},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5329732894897461},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5247540473937988},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5098875761032104},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4249509572982788},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.41670021414756775}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","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":7,"locations":[{"id":"doi:10.1038/srep11380","doi":"https://doi.org/10.1038/srep11380","is_oa":true,"landing_page_url":"https://doi.org/10.1038/srep11380","pdf_url":"https://www.nature.com/articles/srep11380.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3434152","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4468422","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:europepmc.org:3506077","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4523111","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4468422","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4468422","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sci Rep","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4523111","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4523111","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":"Sci Rep","raw_type":"Text"},{"id":"pmid:26077743","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26077743","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":"Scientific reports","raw_type":"Journal Article"},{"id":"pmid:26237740","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26237740","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":"Scientific reports","raw_type":"Published Erratum"}],"best_oa_location":{"id":"doi:10.1038/srep11380","doi":"https://doi.org/10.1038/srep11380","is_oa":true,"landing_page_url":"https://doi.org/10.1038/srep11380","pdf_url":"https://www.nature.com/articles/srep11380.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1221461650.pdf","grobid_xml":"https://content.openalex.org/works/W1221461650.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W234885478","https://openalex.org/W1000990165","https://openalex.org/W1969325449","https://openalex.org/W1969864920","https://openalex.org/W1970484759","https://openalex.org/W1972483214","https://openalex.org/W1991911468","https://openalex.org/W2001084781","https://openalex.org/W2004491324","https://openalex.org/W2036210716","https://openalex.org/W2040612932","https://openalex.org/W2052689531","https://openalex.org/W2055560100","https://openalex.org/W2059775717","https://openalex.org/W2063997003","https://openalex.org/W2064246472","https://openalex.org/W2069105141","https://openalex.org/W2078742038","https://openalex.org/W2082773579","https://openalex.org/W2086237456","https://openalex.org/W2095227542","https://openalex.org/W2099254473","https://openalex.org/W2099860247","https://openalex.org/W2108487922","https://openalex.org/W2116679918","https://openalex.org/W2119180969","https://openalex.org/W2132123037","https://openalex.org/W2138490406","https://openalex.org/W2144885757","https://openalex.org/W2154397429","https://openalex.org/W2160147327","https://openalex.org/W2165624352","https://openalex.org/W2165791625","https://openalex.org/W2168133698","https://openalex.org/W2306538664","https://openalex.org/W2352729582","https://openalex.org/W2807166521","https://openalex.org/W3205881446"],"related_works":["https://openalex.org/W2203393344","https://openalex.org/W2980815293","https://openalex.org/W4224864053","https://openalex.org/W259929561","https://openalex.org/W4417399742","https://openalex.org/W4238553691","https://openalex.org/W2965808509","https://openalex.org/W2888462425","https://openalex.org/W2926211224","https://openalex.org/W2120043292"],"abstract_inverted_index":{"Familial":[0],"hypercholesterolaemia":[1],"(FH)":[2],"is":[3,38,156,164,187],"a":[4,11,107,119,157,178],"serious":[5],"genetic":[6,159,180],"metabolic":[7],"disease.":[8],"We":[9,70,176],"identified":[10,103,148],"specific":[12,192],"family":[13],"in":[14,29,53,149,172],"which":[15],"the":[16,39,50,79,92,165],"proband":[17,117],"had":[18,99,118],"typical":[19],"homozygous":[20,120,154,184],"phenotype":[21],"of":[22,96,161,182],"FH,":[23],"but":[24],"couldn't":[25],"detect":[26],"any":[27],"mutations":[28,140],"usual":[30],"pathogenic":[31,51,80,197],"genes":[32,52],"using":[33],"traditional":[34],"sequencing.":[35],"This":[36,144,163],"study":[37],"first":[40,147,166],"attempt":[41],"to":[42,48,74,90,190],"use":[43],"whole":[44],"exome":[45],"sequencing":[46,84,87,115,136],"(WES)":[47],"identify":[49,191],"Chinese":[54,150,173],"FH.":[55,162],"The":[56,113,134],"routine":[57],"examinations":[58],"were":[59,88,129],"performed":[60],"on":[61,67],"all":[62],"parentage":[63,97],"members,":[64],"and":[65,76,85,126,152],"WES":[66,102,169,186],"5":[68],"members.":[69],"used":[71,89,171],"bioinformatics":[72],"methods":[73],"splice":[75],"filter":[77],"out":[78],"gene.":[81],"Finally,":[82],"Sanger":[83,114],"cDNA":[86,135],"verify":[91],"candidate":[93,108],"genes.":[94],"Half":[95],"members":[98],"got":[100],"hypercholesterolaemia.":[101],"LDLR":[104,183],"IVS8[-10]":[105],"as":[106],"mutation":[109,121,145,155],"from":[110,123],"222,267":[111],"variations.":[112],"showed":[116],"inherited":[122],"his":[124],"parents,":[125],"this":[127,139,153],"loci":[128],"cosegregated":[130],"with":[131,195],"FH":[132,174,193],"phenotype.":[133],"revealed":[137],"that":[138,168],"caused":[141],"abnormal":[142],"shearing.":[143],"was":[146,170],"patients,":[151],"new":[158],"type":[160,181],"time":[167],"patients.":[175],"detected":[177],"novel":[179],"mutation.":[185],"powerful":[188],"tools":[189],"families":[194],"potentially":[196],"gene":[198],"mutations.":[199]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}
