{"id":"https://openalex.org/W48866158","doi":null,"title":"[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].","display_name":"[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].","publication_year":2004,"publication_date":"2004-07-17","ids":{"openalex":"https://openalex.org/W48866158","mag":"48866158","pmid":"https://pubmed.ncbi.nlm.nih.gov/15387979"},"language":"en","primary_location":{"id":"pmid:15387979","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15387979","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":"Zhonghua yi xue za zhi","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100752357","display_name":"Zhaoxia Wang","orcid":"https://orcid.org/0000-0002-8723-4242","observed_orcids":["https://orcid.org/0000-0002-8723-4242"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhao-xia Wang","raw_affiliation_strings":["Department of Neurology, Peking University First Hospital, Beijing 100034, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Peking University First Hospital, Beijing 100034, China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106977057","display_name":"HE Lu","orcid":"https://orcid.org/0000-0002-0436-2864","observed_orcids":["https://orcid.org/0000-0002-0436-2864"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"He Lu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108046754","display_name":"Ying Zhang","orcid":"https://orcid.org/0000-0002-7604-4531","observed_orcids":["https://orcid.org/0000-0002-7604-4531","https://orcid.org/0000-0001-9900-7568"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ying Zhang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061094562","display_name":"Dingfang Bu","orcid":"https://orcid.org/0000-0001-9001-2133","observed_orcids":["https://orcid.org/0000-0001-9001-2133"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ding-fang Bu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089425337","display_name":"Xiao-yuan Niu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-yuan Niu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Zhuo Zhang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zhuo Zhang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102008440","display_name":"Yining Huang","orcid":"https://orcid.org/0000-0002-1657-4151","observed_orcids":["https://orcid.org/0000-0002-1657-4151","https://orcid.org/0009-0002-8870-4047"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yi-ning Huang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5090010759","display_name":"Yun Yuan","orcid":"https://orcid.org/0000-0003-3282-9123","observed_orcids":["https://orcid.org/0000-0003-3282-9123"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yun Yuan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6831,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.72027637,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"84","issue":"14","first_page":"1175","last_page":"80"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T13648","display_name":"Cerebrovascular and genetic disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T11763","display_name":"Intracerebral and Subarachnoid Hemorrhage Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T10697","display_name":"Vasculitis and related conditions","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory 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/notch3-gene","display_name":"NOTCH3 gene","score":0.9020000100135803},{"id":"https://openalex.org/keywords/cadasil","display_name":"CADASIL","score":0.9950000047683716},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9909999966621399},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7400000095367432},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.6899999976158142},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.5590000152587891},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9919999837875366}],"concepts":[{"id":"https://openalex.org/C2779268494","wikidata":"https://www.wikidata.org/wiki/Q1022718","display_name":"CADASIL","level":4,"score":0.9044159650802612},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8999518156051636},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8757938146591187},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.854397714138031},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7864766716957092},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7735693454742432},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6179832816123962},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5267761945724487},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5257008075714111},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.42836815118789673},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3183288872241974},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16891637444496155},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15961062908172607}],"mesh":[{"descriptor_ui":"D000071656","descriptor_name":"Receptor, Notch3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071656","descriptor_name":"Receptor, Notch3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071656","descriptor_name":"Receptor, Notch3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D000368","descriptor_name":"Aged","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":"D001483","descriptor_name":"Base Sequence","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":"D002544","descriptor_name":"Cerebral Infarction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002544","descriptor_name":"Cerebral Infarction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002544","descriptor_name":"Cerebral Infarction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D005260","descriptor_name":"Female","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":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D008875","descriptor_name":"Middle Aged","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":"D008969","descriptor_name":"Molecular Sequence Data","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015161","descriptor_name":"Dementia, Multi-Infarct","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015161","descriptor_name":"Dementia, Multi-Infarct","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015161","descriptor_name":"Dementia, Multi-Infarct","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051880","descriptor_name":"Receptors, Notch","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051880","descriptor_name":"Receptors, Notch","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051880","descriptor_name":"Receptors, Notch","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:15387979","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15387979","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":"Zhonghua yi xue za zhi","raw_type":"Journal Article"},{"id":"mag:48866158","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15387979","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":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.5099999904632568,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2988197518","https://openalex.org/W2368896482","https://openalex.org/W2413939359","https://openalex.org/W2415978164","https://openalex.org/W2385047409","https://openalex.org/W2992479181","https://openalex.org/W2078248421","https://openalex.org/W2057170116","https://openalex.org/W2107423052","https://openalex.org/W2803589394"],"abstract_inverted_index":{"OBJECTIVES:":[0],"To":[1,196],"search":[2,197],"for":[3,69,198],"mutations":[4,78,163,171,186,199],"in":[5,8,60,81,92,102,122,127,153,172,178,187,200,202,218],"NOTCH3":[6,49,71,173,188,201],"gene":[7,50,72,174],"four":[9,27,83,179],"Chinese":[10,180],"families":[11,29,181],"with":[12,17,30,164,182],"cerebral":[13],"autosomal":[14],"dominant":[15],"arteriopathy":[16],"subcortical":[18],"infarcts":[19],"and":[20,43,55,64,114,136,157,209,214],"leukoencephalopathy":[21],"(CADASIL).":[22],"METHODS:":[23],"Four":[24,75,168],"probands":[25],"from":[26],"unrelated":[28],"typical":[31],"manifestations":[32],"of":[33,48,132,193],"CADASIL":[34,219],"were":[35,51,66,79],"studied.":[36],"The":[37],"1":[38,87],"approximately":[39],"12":[40],"coding":[41],"exons":[42],"their":[44],"flanking":[45],"intron":[46],"sequences":[47],"amplified":[52],"by":[53],"PCR":[54],"sequenced.":[56],"Some":[57],"family":[58],"members":[59,152],"the":[61,70,82,85,95,105,115,128,141,154,161,165,194,212],"pedigree":[62,155],"2":[63,97,156],"4":[65,117,158],"also":[67,159],"examined":[68],"mutations.":[73],"RESULTS:":[74],"heterozygous":[76,169],"missense":[77,170],"identified":[80],"families:":[84],"proband":[86,96,106,116],"carrying":[88],"a":[89,98,108,118,144],"268C-->T":[90],"mutation":[91,101,111,121,146],"exon":[93,103,123],"3,":[94,104,113],"322":[99],"C-->T":[100,110,120],"3":[107],"328":[109],"inexon":[112],"1819":[119],"11,":[124],"which":[125],"resulted":[126],"amino":[129],"acid":[130],"substitutions":[131],"R90C,":[133],"C108R,":[134],"R110C,":[135],"R607C":[137],"respectively.":[138],"Among":[139],"them":[140],"C108R":[142],"is":[143],"novel":[145],"not":[147],"reported":[148],"previously.":[149],"Additionally,":[150],"some":[151],"harbored":[160],"same":[162],"probands.":[166],"CONCLUSION:":[167],"have":[175],"been":[176],"found":[177],"CADASIL.":[183],"Different":[184],"point":[185],"lead":[189],"to":[190],"similar":[191],"phenotype":[192],"disease.":[195],"related":[203],"patients":[204],"will":[205],"help":[206],"further":[207],"understand":[208],"accurately":[210],"diagnose":[211],"disease":[213],"perform":[215],"prenatal":[216],"diagnosis":[217],"families.":[220]},"counts_by_year":[{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2016-06-24T00:00:00"}