{"id":"https://openalex.org/W2009147305","doi":"https://doi.org/10.1371/journal.pone.0012349","title":"Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome","display_name":"Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome","publication_year":2010,"publication_date":"2010-08-31","ids":{"openalex":"https://openalex.org/W2009147305","doi":"https://doi.org/10.1371/journal.pone.0012349","mag":"2009147305","pmid":"https://pubmed.ncbi.nlm.nih.gov/20824207","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2930846"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0012349","doi":"https://doi.org/10.1371/journal.pone.0012349","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0012349","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0012349&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","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://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0012349&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085158327","display_name":"Ariel M. Pani","orcid":"https://orcid.org/0000-0002-9338-9750","observed_orcids":["https://orcid.org/0000-0002-9338-9750"]},"institutions":[{"id":"https://openalex.org/I142740786","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478","country_code":"US","type":"education","lineage":["https://openalex.org/I142740786"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ariel M. Pani","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky, United States of America","institution_ids":["https://openalex.org/I142740786"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008152269","display_name":"Holly H. Hobart","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133999245","display_name":"University of Nevada, Las Vegas","ror":"https://ror.org/0406gha72","country_code":"US","type":"education","lineage":["https://openalex.org/I133999245"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Holly H. Hobart","raw_affiliation_strings":["Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America","institution_ids":["https://openalex.org/I133999245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102800561","display_name":"Colleen A. Morris","orcid":"https://orcid.org/0009-0004-3349-6863","observed_orcids":["https://orcid.org/0009-0004-3349-6863"]},"institutions":[{"id":"https://openalex.org/I133999245","display_name":"University of Nevada, Las Vegas","ror":"https://ror.org/0406gha72","country_code":"US","type":"education","lineage":["https://openalex.org/I133999245"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Colleen A. Morris","raw_affiliation_strings":["Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America","institution_ids":["https://openalex.org/I133999245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033114289","display_name":"Carolyn \u0392. Mervis","orcid":"https://orcid.org/0000-0003-4206-6115","observed_orcids":["https://orcid.org/0000-0003-4206-6115"]},"institutions":[{"id":"https://openalex.org/I142740786","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478","country_code":"US","type":"education","lineage":["https://openalex.org/I142740786"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carolyn B. Mervis","raw_affiliation_strings":["Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky, United States of America","institution_ids":["https://openalex.org/I142740786"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111618522","display_name":"Patricia Bray\u2010Ward","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133999245","display_name":"University of Nevada, Las Vegas","ror":"https://ror.org/0406gha72","country_code":"US","type":"education","lineage":["https://openalex.org/I133999245"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patricia Bray-Ward","raw_affiliation_strings":["Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America","institution_ids":["https://openalex.org/I133999245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041472071","display_name":"Kendra W. Kimberley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133999245","display_name":"University of Nevada, Las Vegas","ror":"https://ror.org/0406gha72","country_code":"US","type":"education","lineage":["https://openalex.org/I133999245"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kendra W. Kimberley","raw_affiliation_strings":["Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America","institution_ids":["https://openalex.org/I133999245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112385702","display_name":"Cecilia M. Rios","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133999245","display_name":"University of Nevada, Las Vegas","ror":"https://ror.org/0406gha72","country_code":"US","type":"education","lineage":["https://openalex.org/I133999245"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cecilia M. Rios","raw_affiliation_strings":["Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Genetics Laboratory, University of Nevada School of Medicine, Las Vegas, Nevada, United States of America","institution_ids":["https://openalex.org/I133999245"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111641388","display_name":"Robin C. Clark","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293502524","display_name":"Loma Linda University Medical Center","ror":"https://ror.org/03et1qs84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1293502524"]},{"id":"https://openalex.org/I26347476","display_name":"Loma Linda University","ror":"https://ror.org/04bj28v14","country_code":"US","type":"education","lineage":["https://openalex.org/I26347476"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robin C. Clark","raw_affiliation_strings":["Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, United States of America","institution_ids":["https://openalex.org/I1293502524","https://openalex.org/I26347476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043470502","display_name":"Maricela D. Gulbronson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142740786","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478","country_code":"US","type":"education","lineage":["https://openalex.org/I142740786"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maricela D. Gulbronson","raw_affiliation_strings":["Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, United States of America","institution_ids":["https://openalex.org/I142740786"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046162209","display_name":"Gordon C. Gowans","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142740786","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478","country_code":"US","type":"education","lineage":["https://openalex.org/I142740786"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gordon C. Gowans","raw_affiliation_strings":["Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, United States of America","institution_ids":["https://openalex.org/I142740786"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065223236","display_name":"Ronald G. Gregg","orcid":"https://orcid.org/0000-0001-5805-224X","observed_orcids":["https://orcid.org/0000-0001-5805-224X"]},"institutions":[{"id":"https://openalex.org/I142740786","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478","country_code":"US","type":"education","lineage":["https://openalex.org/I142740786"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ronald G. Gregg","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky, United States of America","institution_ids":["https://openalex.org/I142740786"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5065223236"],"corresponding_institution_ids":["https://openalex.org/I142740786"],"apc_list":{"value":2382,"currency":"USD","value_usd":2382},"apc_paid":{"value":2382,"currency":"USD","value_usd":2382},"fwci":0.4167,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.59680995,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"5","issue":"8","first_page":"e12349","last_page":"e12349"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8148999810218811,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8148999810218811,"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/T13258","display_name":"Williams Syndrome Research","score":0.18119999766349792,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13664","display_name":"Genome Rearrangement Algorithms","score":0.002099999925121665,"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/williams-syndrome","display_name":"Williams syndrome","score":0.9200000166893005},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9679999947547913},{"id":"https://openalex.org/keywords/multiple-congenital-anomalies","display_name":"multiple congenital anomalies","score":0.8809999823570251},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.7110000252723694},{"id":"https://openalex.org/keywords/genomic-rearrangements","display_name":"genome rearrangement","score":0.7850000262260437},{"id":"https://openalex.org/keywords/segmental-duplication","display_name":"segmental duplication","score":0.7649999856948853},{"id":"https://openalex.org/keywords/cri-du-chat-syndrome","display_name":"cri du chat syndrome","score":0.6869999766349792},{"id":"https://openalex.org/keywords/chromosome-5p","display_name":"chromosome 5p","score":0.7630000114440918},{"id":"https://openalex.org/keywords/breakpoint-analysis","display_name":"breakpoint analysis","score":0.4189999997615814},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.5329999923706055},{"id":"https://openalex.org/keywords/genomic-disorders","display_name":"genomic disorders","score":0.5019999742507935}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7910993099212646},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6930363178253174},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.642883837223053},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6385313272476196},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.558134138584137},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.5131648182868958},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.4917741119861603},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.4831947386264801},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.4648159444332123},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.43521174788475037},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.41382527351379395},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4130322337150574},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3639552593231201},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3582438826560974},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2999383807182312},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22141054272651672},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1555977463722229},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D042822","descriptor_name":"Genomic Instability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056916","descriptor_name":"Segmental Duplications, Genomic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pone.0012349","doi":"https://doi.org/10.1371/journal.pone.0012349","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0012349","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0012349&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},{"id":"pmid:20824207","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20824207","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":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2930846","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2930846/","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":"PLoS One","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.789.6964","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.789.6964","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/fb/d4/pone.0012349.PMC2930846.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:3ca61bbe14914e18b2633f5b2005b84b","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/3ca61bbe14914e18b2633f5b2005b84b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 5, Iss 8, p e12349 (2010)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/141892","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Genome_Rearrangements_Detected_by_SNP_Microarrays_in_Individuals_with_Intellectual_Disability_Referred_with_Possible_Williams_Syndrome/141892","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0012349","doi":"https://doi.org/10.1371/journal.pone.0012349","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0012349","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0012349&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1617673554","display_name":"Genotype/Phenotype Correlations in Williams Syndrome","funder_award_id":"R01NS035102","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320310177","display_name":"University of Louisville","ror":"https://ror.org/01ckdn478"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2009147305.pdf","grobid_xml":"https://content.openalex.org/works/W2009147305.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W1518289899","https://openalex.org/W1686085663","https://openalex.org/W1968140797","https://openalex.org/W1972543680","https://openalex.org/W1980756544","https://openalex.org/W1981784854","https://openalex.org/W1983430515","https://openalex.org/W1992752077","https://openalex.org/W1996239144","https://openalex.org/W1997647094","https://openalex.org/W2000971189","https://openalex.org/W2006455155","https://openalex.org/W2012981882","https://openalex.org/W2013221974","https://openalex.org/W2021829013","https://openalex.org/W2035380874","https://openalex.org/W2036841261","https://openalex.org/W2038437697","https://openalex.org/W2044110911","https://openalex.org/W2062811638","https://openalex.org/W2063739474","https://openalex.org/W2069040148","https://openalex.org/W2072603644","https://openalex.org/W2077413215","https://openalex.org/W2079693422","https://openalex.org/W2084657071","https://openalex.org/W2085755265","https://openalex.org/W2101446132","https://openalex.org/W2103939632","https://openalex.org/W2104097622","https://openalex.org/W2104532643","https://openalex.org/W2108637300","https://openalex.org/W2110003745","https://openalex.org/W2110793364","https://openalex.org/W2116753165","https://openalex.org/W2124873881","https://openalex.org/W2125141283","https://openalex.org/W2136145671","https://openalex.org/W2139773267","https://openalex.org/W2141023911","https://openalex.org/W2144899009","https://openalex.org/W2151318268","https://openalex.org/W2155677754","https://openalex.org/W2155707112","https://openalex.org/W2155925153","https://openalex.org/W2156526807","https://openalex.org/W2157403755","https://openalex.org/W2164834542","https://openalex.org/W2168783124","https://openalex.org/W2168854455","https://openalex.org/W2195171474"],"related_works":["https://openalex.org/W2168621721","https://openalex.org/W3030192609","https://openalex.org/W2057126702","https://openalex.org/W3001862779","https://openalex.org/W61697542","https://openalex.org/W2613370913","https://openalex.org/W2613222426","https://openalex.org/W7120340748","https://openalex.org/W2915301175","https://openalex.org/W2893816501"],"abstract_inverted_index":{"BACKGROUND:":[0],"Intellectual":[1],"disability":[2],"(ID)":[3],"affects":[4],"2-3%":[5],"of":[6,35,51,68,85,146,185,233,238],"the":[7,42,66,110,128,132,137,153,164,174,200,225,251,257,294],"population":[8],"and":[9,26,87,122,157,208,214,280,288],"may":[10,272],"occur":[11],"with":[12,48,76,106,118,143,192,221],"or":[13,19,230],"without":[14],"multiple":[15],"congenital":[16],"anomalies":[17,59],"(MCA)":[18],"other":[20],"medical":[21],"conditions.":[22],"Established":[23],"genetic":[24,58],"syndromes":[25,53,78],"visible":[27],"chromosome":[28,161],"abnormalities":[29],"account":[30],"for":[31,39],"a":[32,61,82,158,188,193],"substantial":[33],"percentage":[34],"ID":[36,86,119,229],"diagnoses,":[37],"although":[38],"approximately":[40],"50%":[41],"molecular":[43],"etiology":[44],"is":[45],"unknown.":[46],"Individuals":[47],"features":[49],"suggestive":[50],"various":[52],"but":[54,113],"lacking":[55],"their":[56],"associated":[57,75,191],"pose":[60],"formidable":[62],"clinical":[63,115],"challenge.":[64],"With":[65],"advent":[67],"microarray":[69,206],"techniques,":[70],"submicroscopic":[71],"genome":[72,98,269],"alterations":[73,108,259],"not":[74,197],"known":[77],"are":[79],"emerging":[80],"as":[81],"significant":[83],"cause":[84],"MCA.":[88,231],"METHODOLOGY/PRINCIPAL":[89],"FINDINGS:":[90],"High-density":[91],"SNP":[92,201,205,278],"microarrays":[93],"were":[94,260],"used":[95],"to":[96,212,236],"determine":[97],"wide":[99],"copy":[100],"number":[101],"in":[102,109,136,219,224,245,250],"42":[103],"individuals:":[104],"7":[105],"confirmed":[107],"WS":[111,138,155,226],"region":[112,140,227],"atypical":[114,222],"phenotypes,":[116],"31":[117],"and/or":[120,228],"MCA,":[121],"4":[123],"controls.":[124],"One":[125],"individual":[126],"from":[127,173,293],"first":[129],"group":[130,176],"had":[131,152,177,187],"most":[133],"telomeric":[134],"gene":[135],"critical":[139],"deleted":[141],"along":[142],"2":[144],"Mb":[145],"flanking":[147],"sequence.":[148],"A":[149],"second":[150],"person":[151],"classic":[154],"deletion":[156,194,217],"rearrangement":[159],"on":[160],"5p":[162],"within":[163],"Cri":[165],"du":[166],"Chat":[167],"syndrome":[168],"(OMIM:123450)":[169],"region.":[170],"Six":[171],"individuals":[172,220],"ID/MCA":[175],"large":[178,189],"rearrangements":[179],"(3":[180],"deletions,":[181],"3":[182],"duplications),":[183],"one":[184],"whom":[186],"inversion":[190],"that":[195,242],"was":[196],"detected":[198],"by":[199,262],"arrays.":[202],"CONCLUSIONS/SIGNIFICANCE:":[203],"Combining":[204],"analyses":[207],"qPCR":[209],"allowed":[210],"us":[211],"clone":[213],"sequence":[215,291],"21":[216],"breakpoints":[218,235,295],"deletions":[223,287],"Comparison":[232],"these":[234,271],"databases":[237],"genomic":[239,258,275],"variation":[240],"revealed":[241],"52%":[243],"occurred":[244],"regions":[246],"harboring":[247],"structural":[248],"variants":[249],"general":[252],"population.":[253],"For":[254],"two":[255],"probands":[256],"flanked":[261],"segmental":[263],"duplications,":[264,289],"which":[265],"frequently":[266,296],"mediate":[267],"recurrent":[268],"rearrangements;":[270],"represent":[273],"new":[274],"disorders.":[276],"While":[277],"arrays":[279],"related":[281],"technologies":[282],"can":[283],"identify":[284],"potentially":[285],"pathogenic":[286],"obtaining":[290],"information":[292],"provides":[297],"additional":[298],"information.":[299]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}