{"id":"https://openalex.org/W7120413222","doi":null,"title":"Clinical application for exome: phenotypic expansion, reverse dysmorphology and new genes discovery","display_name":"Clinical application for exome: phenotypic expansion, reverse dysmorphology and new genes discovery","publication_year":2016,"publication_date":"2016-12-21","ids":{"openalex":"https://openalex.org/W7120413222"},"language":"pt","primary_location":{"id":"pmh:oai:repositorio.unifesp.br:11600/47514","doi":null,"is_oa":true,"landing_page_url":"https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4125811","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"instacron:UNIFESP","raw_type":"info:eu-repo/semantics/doctoralThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4125811","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5058869415","display_name":"Michele Patricia Migliavacca","orcid":"https://orcid.org/0000-0003-0405-6039","observed_orcids":["https://orcid.org/0000-0003-0405-6039"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Migliavacca, Michele Patricia [UNIFESP]","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5058869415"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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":1.0,"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/T11310","display_name":"Connective tissue disorders research","score":9.999999747378752e-05,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/monogenic-diseases","display_name":"monogenic disorders","score":0.8859999775886536},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8130000233650208},{"id":"https://openalex.org/keywords/phenotypic-expansion","display_name":"phenotypic expansion","score":0.8769999742507935},{"id":"https://openalex.org/keywords/limb-malformations","display_name":"limb malformations","score":0.8140000104904175},{"id":"https://openalex.org/keywords/mbtps2","display_name":"MBTPS2","score":0.875},{"id":"https://openalex.org/keywords/bcor","display_name":"BCOR","score":0.593999981880188},{"id":"https://openalex.org/keywords/ercc3","display_name":"ERCC3","score":0.7540000081062317},{"id":"https://openalex.org/keywords/trichothiodystrophy","display_name":"trichothiodystrophy","score":0.902999997138977},{"id":"https://openalex.org/keywords/xeroderma-pigmentosum","display_name":"xeroderma pigmentosum","score":0.9660000205039978},{"id":"https://openalex.org/keywords/hdac8","display_name":"HDAC8","score":0.7749999761581421},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7409999966621399},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.7170000076293945}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7538999915122986},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7361000180244446},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6021000146865845},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5982000231742859},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5309000015258789},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.505299985408783},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.47749999165534973},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4708999991416931},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4616999924182892},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.4242999851703644},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41530001163482666},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.3887999951839447},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3880999982357025},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.38670000433921814},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.3589000105857849},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.35589998960494995},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3402999937534332},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32829999923706055},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.3089999854564667},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.2939999997615814},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.28859999775886536},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.2827000021934509},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.28200000524520874},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.2745000123977661},{"id":"https://openalex.org/C63971535","wikidata":"https://www.wikidata.org/wiki/Q6666068","display_name":"Locus heterogeneity","level":5,"score":0.2734000086784363},{"id":"https://openalex.org/C8415881","wikidata":"https://www.wikidata.org/wiki/Q6839217","display_name":"Microarray analysis techniques","level":4,"score":0.2727000117301941},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.27079999446868896},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.26649999618530273}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:repositorio.unifesp.br:11600/47514","doi":null,"is_oa":true,"landing_page_url":"https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4125811","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"instacron:UNIFESP","raw_type":"info:eu-repo/semantics/doctoralThesis"}],"best_oa_location":{"id":"pmh:oai:repositorio.unifesp.br:11600/47514","doi":null,"is_oa":true,"landing_page_url":"https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4125811","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"instacron:UNIFESP","raw_type":"info:eu-repo/semantics/doctoralThesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"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/W2172139908","https://openalex.org/W1865895495","https://openalex.org/W3122226413","https://openalex.org/W2767368821","https://openalex.org/W2623317789","https://openalex.org/W2903979234","https://openalex.org/W621446451","https://openalex.org/W2149410182","https://openalex.org/W1918008698","https://openalex.org/W1898449628"],"abstract_inverted_index":{"Purpose:":[0],"To":[1],"analyze":[2],"candidate":[3,60,143],"variants":[4,61,144],"for":[5,195,256],"previous":[6,203],"selected":[7,111],"patients":[8,86,109],"with":[9,152,176,187,201,228,236,248],"Mendelian":[10],"Diseases":[11],"using":[12,62],"Whole":[13],"Exome":[14],"Sequencing":[15],"(WES).":[16],"Methods:":[17],"Patients":[18],"were":[19,110,145],"obtained":[20],"from":[21],"PhenoDB":[22],"platform":[23,77],"and":[24,102,158,164,180,209,225,242,245],"reviewed":[25],"by":[26,41],"a":[27,133,137,150,159,165,188,202,210,246,249,266,274,283,290,295],"Committee.":[28,83],"Those":[29],"who":[30],"filled":[31],"in":[32,185],"the":[33,37,42,75,81,92,114,124,148,172,192,196,214,233],"selection":[34],"criteria":[35],"had":[36],"exome":[38],"sequencing":[39],"performed":[40],"Illumina":[43],"HiSeq2000":[44],"(Illumina,":[45],"Inc.":[46],"San":[47],"Diego,":[48],"CA)":[49],"platform.":[50],"The":[51,66],"data":[52],"analysis":[53],"workflow":[54],"was":[55,72,95],"design":[56],"to":[57,80,112,147,218,269],"evaluate":[58],"possible":[59],"specific":[63],"computational":[64],"filters.":[65],"ANNOVAR":[67],"file":[68],"of":[69,91,107,116,121,128,206,240],"each":[70],"patient":[71,151,175,200,247],"uploaded":[73],"at":[74,191,213,232,252],"PhenoDb":[76],"being":[78],"available":[79],"Analysis":[82],"Results:":[84],"Twelve":[85],"that":[87],"better":[88],"represented":[89],"one":[90,174,199,223,226],"following":[93],"categories":[94],"selected:":[96],"new":[97,117,166,189],"gene":[98,118,216,254],"discovery,":[99,119],"phenotypic":[100],"expansion":[101],"reverse":[103],"dysmorphology.":[104],"A":[105],"cohort":[106],"six":[108],"represent":[113],"category":[115],"all":[120],"them":[122],"shared":[123],"same":[125],"clinical":[126,204],"diagnosis":[127,205],"Gomez-Lopez-Hernandez":[129],"Syndrome":[130,157,208],"(OMIM":[131],"601853,":[132],"mendelian":[134,271,292],"disease":[135],"without":[136,294],"known":[138],"molecular":[139,275],"basis,":[140],"unfurtunally":[141],"no":[142],"found":[146],"moment;":[149],"Van":[153],"den":[154],"Ende":[155],"Gupta":[156],"SCARF2":[160],"homozygous":[161],"17bp":[162],"deletion":[163],"finding,":[167],"bilateral":[168],"sclerocornea,":[169],"thus":[170],"extending":[171],"phenotype;":[173],"severe":[177],"neonatal":[178],"ichthyosis":[179],"limb":[181],"malformation,":[182],"unusual":[183],"findings":[184],"assotiation,":[186],"mutation":[190,231],"MBTPS2":[193],"responsible":[194,255],"BRESHECK":[197],"Syndrome;":[198],"Ramos-Arroyo":[207],"pathogenic":[211,250],"variant":[212,251],"BCOR":[215],"related":[217],"Syndromic":[219],"Microophtalmya":[220],"type":[221,260],"2;":[222],"brother":[224],"sister":[227],"compound":[229],"heterozygous":[230],"ERCC3":[234],"gene,":[235],"an":[237],"overlapping":[238],"phenotype":[239],"Tricothiodystrophy":[241],"Xeroderma":[243],"Pigmentosum,":[244],"HDAC8":[253],"Cornelia":[257],"de":[258],"Lange":[259],"5":[261],"Syndrome.":[262],"Conclusion:":[263],"WES":[264],"is":[265,277,289],"valid":[267],"approach":[268],"investigated":[270],"diseases":[272],"when":[273],"basis":[276],"not":[278],"known,":[279],"genetic":[280],"heterogeneity":[281],"plays":[282],"important":[284],"role":[285],"or":[286],"if":[287],"there":[288],"suggestive":[291],"inheritance":[293],"clear":[296],"diagnosis.":[297]},"counts_by_year":[],"updated_date":"2026-09-25T08:18:29.962427","created_date":"2026-01-10T00:00:00"}
