{"id":"https://openalex.org/W4386698499","doi":"https://doi.org/10.1155/2023/4225092","title":"An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader\u2013Willi Syndrome","display_name":"An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader\u2013Willi Syndrome","publication_year":2023,"publication_date":"2023-09-13","ids":{"openalex":"https://openalex.org/W4386698499","doi":"https://doi.org/10.1155/2023/4225092","pmid":"https://pubmed.ncbi.nlm.nih.gov/37736297","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10511293"},"language":"en","primary_location":{"id":"doi:10.1155/2023/4225092","doi":"https://doi.org/10.1155/2023/4225092","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2023/4225092","pdf_url":"https://downloads.hindawi.com/journals/crig/2023/4225092.pdf","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://downloads.hindawi.com/journals/crig/2023/4225092.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064708575","display_name":"Molly M. Crenshaw","orcid":"https://orcid.org/0000-0002-0915-6154","observed_orcids":["https://orcid.org/0000-0002-0915-6154"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Molly M. Crenshaw","raw_affiliation_strings":["University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA"],"raw_orcid":"https://orcid.org/0000-0002-0915-6154","affiliations":[{"raw_affiliation_string":"University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001852840","display_name":"Sharon Louise Graw","orcid":"https://orcid.org/0000-0003-4577-1493","observed_orcids":["https://orcid.org/0000-0003-4577-1493"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sharon L. Graw","raw_affiliation_strings":["Colorado Genetics Laboratory, Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Colorado Genetics Laboratory, Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087221814","display_name":"Dobromir B. Slavov","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dobromir Slavov","raw_affiliation_strings":["Division of Cardiology, Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiology, Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024457228","display_name":"Theresa A. Boyle","orcid":"https://orcid.org/0000-0001-5950-3970","observed_orcids":["https://orcid.org/0000-0001-5950-3970"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Theresa A. Boyle","raw_affiliation_strings":["Department of Pathology, Stanford University, Palo Alto, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Stanford University, Palo Alto, California, USA","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077103231","display_name":"Daniel G. Piqu\u00e9","orcid":"https://orcid.org/0000-0003-0074-3974","observed_orcids":["https://orcid.org/0000-0003-0074-3974"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel G. Piqu\u00e9","raw_affiliation_strings":["University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066041440","display_name":"Matthew R.G. Taylor","orcid":"https://orcid.org/0000-0001-9043-0810","observed_orcids":["https://orcid.org/0000-0001-9043-0810"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Matthew Taylor","raw_affiliation_strings":["Adult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA"],"raw_orcid":"https://orcid.org/0000-0001-9043-0810","affiliations":[{"raw_affiliation_string":"Adult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101719525","display_name":"Peter Russell Baker","orcid":"https://orcid.org/0000-0002-9170-9618","observed_orcids":["https://orcid.org/0000-0002-9170-9618"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter Baker","raw_affiliation_strings":["University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA"],"raw_orcid":"https://orcid.org/0000-0002-9170-9618","affiliations":[{"raw_affiliation_string":"University of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5066041440"],"corresponding_institution_ids":["https://openalex.org/I51713134"],"apc_list":{"value":725,"currency":"USD","value_usd":725},"apc_paid":{"value":725,"currency":"USD","value_usd":725},"fwci":0.8291,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.70941212,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":97},"biblio":{"volume":"2023","issue":null,"first_page":"1","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.9990000128746033,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.9990000128746033,"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":0.0006000000284984708,"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":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/prader-willi-syndrome","display_name":"Prader-Willi syndrome","score":0.9769999980926514},{"id":"https://openalex.org/keywords/snord116","display_name":"SNORD116","score":0.921999990940094},{"id":"https://openalex.org/keywords/genomic-imprinting","display_name":"genomic imprinting","score":0.7770000100135803},{"id":"https://openalex.org/keywords/paternally-expressed-genes","display_name":"paternally expressed genes","score":0.8650000095367432},{"id":"https://openalex.org/keywords/atypical-deletion","display_name":"atypical deletion","score":0.6460000276565552},{"id":"https://openalex.org/keywords/maternal-uniparental-disomy","display_name":"maternal uniparental disomy","score":0.8399999737739563},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.7519999742507935}],"concepts":[{"id":"https://openalex.org/C201492766","wikidata":"https://www.wikidata.org/wiki/Q84087","display_name":"Genomic imprinting","level":5,"score":0.8049352169036865},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.724834144115448},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6589824557304382},{"id":"https://openalex.org/C179255354","wikidata":"https://www.wikidata.org/wiki/Q284416","display_name":"Small nucleolar RNA","level":5,"score":0.6547811031341553},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.64453125},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6097572445869446},{"id":"https://openalex.org/C94715292","wikidata":"https://www.wikidata.org/wiki/Q624349","display_name":"Imprinting (psychology)","level":3,"score":0.600671112537384},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5489717721939087},{"id":"https://openalex.org/C2910535243","wikidata":"https://www.wikidata.org/wiki/Q5113922","display_name":"Chromosomal region","level":4,"score":0.4283153712749481},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2885330617427826},{"id":"https://openalex.org/C62203573","wikidata":"https://www.wikidata.org/wiki/Q15087973","display_name":"Long non-coding RNA","level":4,"score":0.24243587255477905},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.22921088337898254},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.21899983286857605},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.12480190396308899}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1155/2023/4225092","doi":"https://doi.org/10.1155/2023/4225092","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2023/4225092","pdf_url":"https://downloads.hindawi.com/journals/crig/2023/4225092.pdf","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10511293","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10511293","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10511293/pdf/CRIG2023-4225092.pdf","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":"Case Rep Genet","raw_type":"Text"},{"id":"pmid:37736297","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37736297","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":"Case reports in genetics","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:8135f8c0a7ff4cb885ed8374ded74466","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8135f8c0a7ff4cb885ed8374ded74466","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":"Case Reports in Genetics, Vol 2023 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1155/2023/4225092","doi":"https://doi.org/10.1155/2023/4225092","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2023/4225092","pdf_url":"https://downloads.hindawi.com/journals/crig/2023/4225092.pdf","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"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/W4386698499.pdf","grobid_xml":"https://content.openalex.org/works/W4386698499.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W1978715316","https://openalex.org/W1982946759","https://openalex.org/W1987138467","https://openalex.org/W2008285304","https://openalex.org/W2014534727","https://openalex.org/W2076783259","https://openalex.org/W2080552695","https://openalex.org/W2093760946","https://openalex.org/W2102453744","https://openalex.org/W2114957217","https://openalex.org/W2118314203","https://openalex.org/W2125108705","https://openalex.org/W2169243271","https://openalex.org/W2523377939","https://openalex.org/W2592473641","https://openalex.org/W2618087234","https://openalex.org/W2951443584","https://openalex.org/W3001510942","https://openalex.org/W3166082490","https://openalex.org/W3168633739","https://openalex.org/W4295725591"],"related_works":["https://openalex.org/W2523377939","https://openalex.org/W4409307941","https://openalex.org/W1978715316","https://openalex.org/W2618087234","https://openalex.org/W3001510942","https://openalex.org/W4295725591","https://openalex.org/W2080552695","https://openalex.org/W1993005758","https://openalex.org/W2592473641","https://openalex.org/W1992218856"],"abstract_inverted_index":{"Loss":[0],"of":[1,3,40,69,86,96,104,137,143],"expression":[2,142],"paternally":[4,26],"imprinted":[5],"genes":[6,29,36,74,88],"in":[7,53,75],"the":[8,14,38,41,45,54,76,83,90,102,105],"15q11.2-q13":[9],"chromosomal":[10],"region":[11,23,108],"leads":[12],"to":[13,89,125],"neurodevelopmental":[15],"disorder":[16],"Prader\u2013Willi":[17],"Syndrome":[18],"(PWS).":[19],"The":[20],"PWS":[21,55,77,91,106,122],"critical":[22,78,107],"contains":[24],"four":[25],"expressed":[27],"protein-coding":[28],"along":[30],"with":[31,119,139],"small":[32],"nucleolar":[33],"RNA":[34],"(snoRNA)":[35],"under":[37],"control":[39],"SNURF-SNRPN":[42,138],"promoter,":[43],"including":[44],"SNORD116":[46],"snoRNA":[47],"gene":[48],"cluster":[49],"that":[50,130],"is":[51],"implicated":[52],"disease":[56],"etiology.":[57],"A":[58],"5-7":[59],"Mb":[60],"deletion,":[61],"maternal":[62],"uniparental":[63],"disomy,":[64],"or":[65,109],"an":[66,116],"imprinting":[67],"defect":[68],"chromosome":[70],"15q":[71],"affect":[72],"multiple":[73],"region,":[79],"causing":[80],"PWS.":[81],"However,":[82],"individual":[84],"contributions":[85],"these":[87],"phenotype":[92,123],"remain":[93],"elusive.":[94],"Reports":[95],"smaller,":[97],"atypical":[98],"deletions":[99],"may":[100],"refine":[101],"boundaries":[103],"suggest":[110],"additional":[111],"disease-causing":[112],"mechanisms.":[113],"We":[114],"describe":[115],"adult":[117],"female":[118],"a":[120,126],"classic":[121],"due":[124],"78":[127],"kb":[128],"microdeletion":[129],"includes":[131],"only":[132],"exons":[133],"2":[134],"and":[135],"3":[136],"apparently":[140],"preserved":[141],"SNORD116.":[144]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2}],"updated_date":"2026-10-29T09:56:32.521200","created_date":"2023-09-14T00:00:00"}