{"id":"https://openalex.org/W2803175172","doi":"https://doi.org/10.3892/mmr.2018.9031","title":"Application of an improved targeted next generation sequencing method to diagnose non\u2011syndromic mental retardation in one step: A case report","display_name":"Application of an improved targeted next generation sequencing method to diagnose non\u2011syndromic mental retardation in one step: A case report","publication_year":2018,"publication_date":"2018-05-17","ids":{"openalex":"https://openalex.org/W2803175172","doi":"https://doi.org/10.3892/mmr.2018.9031","mag":"2803175172","pmid":"https://pubmed.ncbi.nlm.nih.gov/29845227"},"language":"en","primary_location":{"id":"doi:10.3892/mmr.2018.9031","doi":"https://doi.org/10.3892/mmr.2018.9031","is_oa":true,"landing_page_url":"https://doi.org/10.3892/mmr.2018.9031","pdf_url":"http://www.spandidos-publications.com/10.3892/mmr.2018.9031/download","source":{"id":"https://openalex.org/S95395365","display_name":"Molecular Medicine Reports","issn_l":"1791-2997","issn":["1791-2997","1791-3004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Medicine Reports","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.spandidos-publications.com/10.3892/mmr.2018.9031/download","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100739096","display_name":"Weipeng Wang","orcid":"https://orcid.org/0000-0003-0205-569X","observed_orcids":["https://orcid.org/0000-0003-0205-569X"]},"institutions":[{"id":"https://openalex.org/I4210124300","display_name":"Hubei Provincial Women and Children's Hospital","ror":"https://ror.org/03323pz98","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124300"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Weipeng Wang","raw_affiliation_strings":["Prenatal Diagnosis Center, Hubei Maternal and Child Health Hospital, Wuhan, Hubei 430070, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hubei Maternal and Child Health Hospital, Wuhan, Hubei 430070, P.R. China","institution_ids":["https://openalex.org/I4210124300"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102010473","display_name":"Bing Mao","orcid":"https://orcid.org/0000-0002-0844-0161","observed_orcids":["https://orcid.org/0000-0002-0844-0161"]},"institutions":[{"id":"https://openalex.org/I4210166660","display_name":"Wuhan Medical Center for Women and Children","ror":"https://ror.org/04yajdn66","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210166660"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bing Mao","raw_affiliation_strings":["Department of Neurology, Wuhan Medical and Health Center for Women and Children, Wuhan, Hubei 430016, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Wuhan Medical and Health Center for Women and Children, Wuhan, Hubei 430016, P.R. China","institution_ids":["https://openalex.org/I4210166660"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069204507","display_name":"Xiaoming Wei","orcid":"https://orcid.org/0000-0002-7471-8344","observed_orcids":["https://orcid.org/0000-0002-7471-8344"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoming Wei","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047301438","display_name":"Dan Yin","orcid":"https://orcid.org/0000-0003-1268-5345","observed_orcids":["https://orcid.org/0000-0003-1268-5345"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Dan Yin","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100423905","display_name":"Hui Li","orcid":"https://orcid.org/0000-0002-5604-0592","observed_orcids":["https://orcid.org/0000-0002-5604-0592"]},"institutions":[{"id":"https://openalex.org/I4210124300","display_name":"Hubei Provincial Women and Children's Hospital","ror":"https://ror.org/03323pz98","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124300"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hui Li","raw_affiliation_strings":["Prenatal Diagnosis Center, Hubei Maternal and Child Health Hospital, Wuhan, Hubei 430070, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Hubei Maternal and Child Health Hospital, Wuhan, Hubei 430070, P.R. China","institution_ids":["https://openalex.org/I4210124300"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001771297","display_name":"Liangwei Mao","orcid":"https://orcid.org/0000-0002-4325-4962","observed_orcids":["https://orcid.org/0000-0002-4325-4962"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liangwei Mao","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054901937","display_name":"Xueqin Guo","orcid":"https://orcid.org/0000-0002-6325-0432","observed_orcids":["https://orcid.org/0000-0002-6325-0432"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xueqin Guo","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yan Sun","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Sun","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102933873","display_name":"Yun Yang","orcid":"https://orcid.org/0000-0003-1786-0106","observed_orcids":["https://orcid.org/0000-0003-1786-0106"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yun Yang","raw_affiliation_strings":["BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI\u2011Wuhan, BGI\u2011Shenzhen, Wuhan, Hubei 430074, P.R. China","institution_ids":["https://openalex.org/I100135526"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.05005984,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"18","issue":"1","first_page":"981","last_page":"986"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8672000169754028,"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":0.8672000169754028,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.1200999990105629,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/non-syndromic-intellectual-disability","display_name":"non-syndromic intellectual disability","score":0.9660000205039978},{"id":"https://openalex.org/keywords/targeted-next-generation-sequencing","display_name":"targeted next-generation sequencing","score":0.7279999852180481},{"id":"https://openalex.org/keywords/chromosomal-microdeletion","display_name":"chromosomal microdeletion","score":0.6349999904632568},{"id":"https://openalex.org/keywords/single-gene-mutations","display_name":"single-gene mutations","score":0.6290000081062317},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.5080000162124634},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.7210000157356262}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7550801038742065},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6165781021118164},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5955814123153687},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.535300076007843},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5181769132614136},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4406314492225647},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.41496413946151733},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41296935081481934},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38332903385162354},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.29901063442230225}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058496","descriptor_name":"Smith-Magenis Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D058496","descriptor_name":"Smith-Magenis Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3892/mmr.2018.9031","doi":"https://doi.org/10.3892/mmr.2018.9031","is_oa":true,"landing_page_url":"https://doi.org/10.3892/mmr.2018.9031","pdf_url":"http://www.spandidos-publications.com/10.3892/mmr.2018.9031/download","source":{"id":"https://openalex.org/S95395365","display_name":"Molecular Medicine Reports","issn_l":"1791-2997","issn":["1791-2997","1791-3004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Medicine Reports","raw_type":"journal-article"},{"id":"pmid:29845227","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29845227","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":"Molecular medicine reports","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.3892/mmr.2018.9031","doi":"https://doi.org/10.3892/mmr.2018.9031","is_oa":true,"landing_page_url":"https://doi.org/10.3892/mmr.2018.9031","pdf_url":"http://www.spandidos-publications.com/10.3892/mmr.2018.9031/download","source":{"id":"https://openalex.org/S95395365","display_name":"Molecular Medicine Reports","issn_l":"1791-2997","issn":["1791-2997","1791-3004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Medicine Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2803175172.pdf","grobid_xml":"https://content.openalex.org/works/W2803175172.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W311679615","https://openalex.org/W1191627756","https://openalex.org/W1871664585","https://openalex.org/W1975682351","https://openalex.org/W1981395373","https://openalex.org/W1988293854","https://openalex.org/W2035101613","https://openalex.org/W2038585946","https://openalex.org/W2039892043","https://openalex.org/W2050091230","https://openalex.org/W2093782086","https://openalex.org/W2098336002","https://openalex.org/W2104532643","https://openalex.org/W2111486924","https://openalex.org/W2116514710","https://openalex.org/W2140186117","https://openalex.org/W2143428036","https://openalex.org/W2148264969","https://openalex.org/W2155677754","https://openalex.org/W2157970897","https://openalex.org/W2157984066","https://openalex.org/W2164802422","https://openalex.org/W2519015349","https://openalex.org/W2597501874","https://openalex.org/W4251389445"],"related_works":["https://openalex.org/W3094872770","https://openalex.org/W2887018643","https://openalex.org/W2905208404","https://openalex.org/W1947535376","https://openalex.org/W7029446871","https://openalex.org/W6945997144","https://openalex.org/W3197833981","https://openalex.org/W2946990669","https://openalex.org/W2788197685","https://openalex.org/W3031774451"],"abstract_inverted_index":{"The":[0,49,71,89],"genetic":[1,148],"basis":[2],"of":[3,43,124,147],"congenital":[4,156],"mental":[5,66,122,152],"retardation":[6,67,123,153],"includes":[7],"chromosomal":[8],"anomalies":[9],"and":[10,23,82,154],"single":[11,32,84],"gene":[12,33,85],"mutations.":[13,34],"In":[14,108],"addition":[15],"to":[16,30,39,58,104,119,136],"chromosome":[17],"microarray":[18],"analysis,":[19],"next\u2011generation":[20],"sequencing":[21,25],"(NGS)":[22],"Sanger":[24],"have":[26],"additionally":[27],"been":[28],"applied":[29,52,118],"identify":[31,40],"However,":[35],"no":[36,83],"methods":[37],"exist":[38],"the":[41,78,105,109,134,144],"cause":[42,126],"an":[44,53,60,112],"anomaly":[45],"in":[46,68,127,150],"one":[47,69,128],"step.":[48,70,129],"present":[50,110],"study":[51],"improved":[54,79,113,131],"targeted":[55,80,114],"NGS":[56,81,115],"method":[57,116,132],"diagnose":[59,120],"8\u2011year\u2011old":[61],"Chinese":[62],"Han":[63],"female":[64],"with":[65],"microdeletion":[72,91],"17p11.2":[73],"was":[74,92,101,117],"successfully":[75],"detected":[76],"by":[77],"mutations":[86],"were":[87],"identified.":[88],"same":[90],"verified":[93],"using":[94],"low":[95],"coverage":[96],"whole\u2011genome":[97],"sequencing.":[98],"Fertility":[99],"guidance":[100],"also":[102],"given":[103],"patient's":[106],"parents.":[107],"study,":[111],"non\u2011syndromic":[121,151],"unknown":[125],"This":[130],"has":[133],"potential":[135],"be":[137],"developed":[138],"into":[139],"a":[140],"screening":[141],"panel":[142],"for":[143],"effective":[145],"diagnosis":[146],"abnormalities":[149],"other":[155],"anomalies.":[157]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2018-06-01T00:00:00"}
