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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6.
Hum Genomics. 2023.
PMID: 37968704
Free PMC article.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, Minillo RM, Caraciolo MP, Reis RS, de Azevedo BMC, Nobrega MS, Teixeira ACB, Martinelli Lima M, da Mota TR, da Matta MC, Colichio GBC, Roncalho AL, Ferreira AFM, Campilongo GP, Perrone E, Virmond LDA, Moreno CA, Prota JRM, de França M, Cervato MC, de Almeida TF, de Oliveira Filho JB.
Quaio CRAC, et al. Among authors: caraciolo mp.
Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022.
Front Genet. 2022.
PMID: 36147510
Free PMC article.
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The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.
Coelho AVC, Mascaro-Cordeiro B, Lucon DR, Nóbrega MS, Reis RS, de Alexandre RB, Moura LMS, de Oliveira GS, Guedes RLM, Caraciolo MP, Zurro NB, Cervato MC, Oliveira JB.
Coelho AVC, et al. Among authors: caraciolo mp.
Front Mol Biosci. 2022 May 2;9:821582. doi: 10.3389/fmolb.2022.821582. eCollection 2022.
Front Mol Biosci. 2022.
PMID: 35586190
Free PMC article.
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The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.
de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, Minillo RM, de Vasconcelos Carvalho Neto G, Grivicich I, Oliveira JB.
de Oliveira JM, et al. Among authors: caraciolo mp.
Eur J Hum Genet. 2022 Jul;30(7):818-823. doi: 10.1038/s41431-022-01098-7. Epub 2022 May 9.
Eur J Hum Genet. 2022.
PMID: 35534704
Free PMC article.
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