{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:56:26Z","timestamp":1792079786697,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303712\/2016\u20103"],"award-info":[{"award-number":["303712\/2016\u20103"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["466651\/2014\u20107"],"award-info":[{"award-number":["466651\/2014\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/08028\u20101"],"award-info":[{"award-number":["2013\/08028\u20101"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2019\/19521\u20107"],"award-info":[{"award-number":["2019\/19521\u20107"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.1%; 5\/122). Based on gene content and recurrence in three large cohorts [a Brazilian neurodevelopmental disorder cohort, the autism MSSNG cohort, and the Canadian\u2010based Centre for Applied Genomics microarray database], this work strengthened the pathogenicity of 14 genes (\n                    <jats:italic>FAT1<\/jats:italic>\n                    ,\n                    <jats:italic>CAMK4<\/jats:italic>\n                    ,\n                    <jats:italic>BIRC6<\/jats:italic>\n                    ,\n                    <jats:italic>DPP6<\/jats:italic>\n                    ,\n                    <jats:italic>CSMD1<\/jats:italic>\n                    ,\n                    <jats:italic>CTNNA3<\/jats:italic>\n                    ,\n                    <jats:italic>CDH8\/CDH11<\/jats:italic>\n                    ,\n                    <jats:italic>CDH13<\/jats:italic>\n                    ,\n                    <jats:italic>OR1C1<\/jats:italic>\n                    ,\n                    <jats:italic>CNTN6<\/jats:italic>\n                    ,\n                    <jats:italic>CNTNAP4<\/jats:italic>\n                    ,\n                    <jats:italic>FGF2<\/jats:italic>\n                    and\n                    <jats:italic>PTPRN2<\/jats:italic>\n                    ) within 14 CNVs. Notably, enrichment of cell adhesion proteins to ASD etiology was identified (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05), highlighting the importance of these gene families in the etiology of ASD.\n                  <\/jats:p>","DOI":"10.1111\/cge.14072","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T20:11:19Z","timestamp":1634760679000},"page":"134-141","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes"],"prefix":"10.1111","volume":"101","author":[{"given":"Claudia Ismania Samogy","family":"Costa","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduarda Morgana","family":"da Silva Montenegro","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Zarrei","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics, Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elo\u00edsa","family":"de S\u00e1 Moreira","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabela Maya Wahys","family":"Silva","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00edlia","family":"de Oliveira Scliar","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaqueline Yu Ting","family":"Wang","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Cristina","family":"Zachi","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa Varella","family":"Branco","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia Souza","family":"da Costa","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naila Cristina Vila\u00e7a","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela Maria","family":"Vianna\u2010Morgante","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Estudos do Genoma Humano e C\u00e9lulas\u2010tronco, Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo  S\u00e3o Paulo SP 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Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13717"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-61779-507-7_5"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0098-3"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-0231-2"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.2238"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4524"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23220"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043166"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12969"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00780.2013"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psychres.2017.07.028"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002464"}],"container-title":["Clinical 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