{"id":"https://openalex.org/W3013315779","doi":null,"title":"Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects.","display_name":"Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects.","publication_year":2018,"publication_date":"2018-01-01","ids":{"openalex":"https://openalex.org/W3013315779","mag":"3013315779","pmid":"https://pubmed.ncbi.nlm.nih.gov/31949757","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6962893"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:5916245","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6962893","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"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6962893","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034539415","display_name":"Jinyu Xu","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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jinyu Xu","raw_affiliation_strings":["Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042306396","display_name":"Qingqing Wu","orcid":"https://orcid.org/0000-0002-6836-9192","observed_orcids":["https://orcid.org/0000-0002-6836-9192"]},"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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qingqing Wu","raw_affiliation_strings":["Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100335897","display_name":"Li Wang","orcid":"https://orcid.org/0000-0001-9510-6294","observed_orcids":["https://orcid.org/0000-0001-9510-6294"]},"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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Li Wang","raw_affiliation_strings":["Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101080241","display_name":"Jijing Han","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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jijing Han","raw_affiliation_strings":["Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yan Pei","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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Pei","raw_affiliation_strings":["Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019843347","display_name":"Wenxue Zhi","orcid":"https://orcid.org/0000-0002-4632-8023","observed_orcids":["https://orcid.org/0000-0002-4632-8023"]},"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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wenxue Zhi","raw_affiliation_strings":["Department of Pathology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100351162","display_name":"Yan Liu","orcid":"https://orcid.org/0000-0003-2918-5398","observed_orcids":["https://orcid.org/0000-0003-2918-5398"]},"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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Liu","raw_affiliation_strings":["Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042169426","display_name":"Chenghong Yin","orcid":"https://orcid.org/0000-0002-2503-3285","observed_orcids":["https://orcid.org/0000-0002-2503-3285"]},"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/I4210163952","display_name":"Beijing Obstetrics and Gynecology Hospital","ror":"https://ror.org/05787my06","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210163952"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chenghong Yin","raw_affiliation_strings":["Department of Internal Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210163952"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100756716","display_name":"Yuxin Jiang","orcid":"https://orcid.org/0000-0003-4122-8792","observed_orcids":["https://orcid.org/0000-0003-4122-8792","https://orcid.org/0000-0002-1539-2153","https://orcid.org/0000-0002-9797-5116"]},"institutions":[{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuxin Jiang","raw_affiliation_strings":["Department of Ultrasound, Peking Union Medical College Hospital Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Peking Union Medical College Hospital Beijing, China","institution_ids":["https://openalex.org/I2801228662"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1561,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.40644517,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"11","issue":"7","first_page":"3732","last_page":"3743"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.63919997215271,"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/T11677","display_name":"Congenital heart defects research","score":0.63919997215271,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.10440000146627426,"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/T10300","display_name":"Congenital Heart Disease Studies","score":0.08489999920129776,"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/atrioventricular-septal-defect","display_name":"atrioventricular septal defect","score":0.9750000238418579},{"id":"https://openalex.org/keywords/non-syndromic-congenital-heart-disease","display_name":"non-syndromic congenital heart disease","score":0.9829999804496765},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.7319999933242798},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.9539999961853027},{"id":"https://openalex.org/keywords/de-novo-cnvs","display_name":"de novo CNVs","score":0.6959999799728394},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.7039999961853027},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.628000020980835},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.5270000100135803},{"id":"https://openalex.org/keywords/familial-case","display_name":"familial case","score":0.3100000023841858},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"pathogenicity","score":0.5609999895095825}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8333526849746704},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6881657838821411},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6446636915206909},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6354391574859619},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6281164884567261},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5136768221855164},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.5058431625366211},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4741106629371643},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44427186250686646},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.4362601041793823},{"id":"https://openalex.org/C2910018961","wikidata":"https://www.wikidata.org/wiki/Q390211","display_name":"Atrioventricular Septal Defect","level":3,"score":0.4228940010070801},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.35595306754112244},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.31319573521614075},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.31294018030166626},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.20778760313987732},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.09832876920700073}],"mesh":[],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:5916245","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6962893","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":"pmid:31949757","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31949757","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":"International journal of clinical and experimental pathology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6962893","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6962893/","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":"Int J Clin Exp Pathol","raw_type":"Text"},{"id":"mag:3013315779","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31949757","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:5916245","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6962893","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"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":52,"referenced_works":["https://openalex.org/W247100659","https://openalex.org/W954754213","https://openalex.org/W1641137889","https://openalex.org/W1820759934","https://openalex.org/W1961868062","https://openalex.org/W1965895014","https://openalex.org/W1978155997","https://openalex.org/W1991633140","https://openalex.org/W1996337584","https://openalex.org/W2002214947","https://openalex.org/W2011098217","https://openalex.org/W2023310710","https://openalex.org/W2025559562","https://openalex.org/W2026925600","https://openalex.org/W2034197594","https://openalex.org/W2035101613","https://openalex.org/W2038473742","https://openalex.org/W2041600962","https://openalex.org/W2054676857","https://openalex.org/W2058781152","https://openalex.org/W2059145105","https://openalex.org/W2065188373","https://openalex.org/W2066955761","https://openalex.org/W2076357933","https://openalex.org/W2081445260","https://openalex.org/W2100474685","https://openalex.org/W2103441770","https://openalex.org/W2119006560","https://openalex.org/W2133848122","https://openalex.org/W2137562589","https://openalex.org/W2142810135","https://openalex.org/W2143238378","https://openalex.org/W2148387963","https://openalex.org/W2150730617","https://openalex.org/W2157379781","https://openalex.org/W2157671301","https://openalex.org/W2162277712","https://openalex.org/W2164238593","https://openalex.org/W2166027061","https://openalex.org/W2168133698","https://openalex.org/W2233252933","https://openalex.org/W2256016639","https://openalex.org/W2262626337","https://openalex.org/W2265303794","https://openalex.org/W2331648671","https://openalex.org/W2344321719","https://openalex.org/W2558142123","https://openalex.org/W2612402183","https://openalex.org/W2766056404","https://openalex.org/W2782443821","https://openalex.org/W2953383023","https://openalex.org/W4300196896"],"related_works":["https://openalex.org/W247100659","https://openalex.org/W2023310710","https://openalex.org/W2897191101","https://openalex.org/W2889382450","https://openalex.org/W4319161062","https://openalex.org/W2137562589","https://openalex.org/W2331648671","https://openalex.org/W2414473339","https://openalex.org/W7100769881","https://openalex.org/W3025278800"],"abstract_inverted_index":{"Atrioventricular":[0],"septal":[1],"defects":[2],"(AVSDs)":[3],"account":[4],"for":[5,95,109,151],"approximately":[6],"5%":[7],"of":[8,16,57,117,175,184],"all":[9],"congenital":[10],"heart":[11],"disease":[12],"(CHD).":[13],"About":[14],"half":[15],"AVSDs":[17,30,176],"are":[18],"diagnosed":[19],"in":[20,66,138],"cases":[21],"with":[22,68],"trisomy":[23],"21":[24],"(Down's":[25],"syndrome,":[26],"DS).":[27],"However,":[28],"many":[29],"occur":[31],"sporadically":[32],"and":[33,41,123,132,171,182,189],"manifest":[34],"as":[35],"non-syndromic.":[36],"The":[37],"pathogenesis":[38],"is":[39],"complex":[40],"has":[42],"not":[43,165],"yet":[44],"been":[45],"fully":[46],"elucidated.":[47],"In":[48],"the":[49,63,89,106,110,154,168,172,180],"present":[50],"study,":[51],"we":[52],"applied":[53],"two":[54,78],"advanced":[55],"applications":[56],"next-generation":[58],"sequencing":[59,83,100],"(NGS)":[60],"to":[61,87,104,159],"explore":[62],"genetic":[64,169,187],"variations":[65,93],"families":[67],"fetal":[69],"non-syndromic":[70],"AVSDs.":[71],"Our":[72,163],"study":[73,164],"was":[74,85,102],"mainly":[75],"divided":[76],"into":[77],"steps:":[79],"(1)":[80],"low-pass":[81],"whole-genome":[82],"(WGS)":[84],"used":[86,103],"detect":[88,105],"genome-wide":[90],"copy":[91],"number":[92],"(CNVs)":[94],"included":[96],"subjects;":[97],"(2)":[98],"whole-exome":[99],"(WES)":[101],"gene":[107,128],"mutations":[108,129],"subjects":[111],"without":[112],"AVSD-associated":[113],"CNVs.":[114],"A":[115],"total":[116],"17":[118],"heterozygous":[119,125,143],"de":[120,126,144],"novo":[121,127,145],"CNVs":[122],"19":[124],"were":[130,136],"selected,":[131],"15":[133],"candidate":[134],"genes":[135],"involved":[137],"these":[139,142],"variations.":[140],"Among":[141],"variations,":[146],"most":[147],"have":[148],"potential":[149],"pathogenicity":[150],"AVSDs,":[152],"but":[153,177],"others":[155],"require":[156],"further":[157],"investigation":[158],"confirm":[160],"their":[161],"pathogenicity.":[162],"only":[166],"shows":[167,179],"diversity":[170],"etiological":[173],"complexity":[174],"also":[178],"rationality":[181],"practicability":[183],"this":[185],"sequential":[186],"detection":[188],"analysis":[190],"strategy.":[191]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2020-04-03T00:00:00"}