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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Perrone E, Coelho AVC, Virmond LDA, Espolaor JGA, Filho JBO, Nascimento ATBD, Matta MCD, Meira JGC, Cardoso-Júnior LM, Andrade ACM, Chaves RZT, Acosta AX. Perrone E, et al. Among authors: virmond lda. Am J Med Genet A. 2024 Oct;194(10):e63602. doi: 10.1002/ajmg.a.63602. Epub 2024 Mar 22. Am J Med Genet A. 2024. PMID: 38517102 Review.
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: virmond lda. Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022. Front Genet. 2022. PMID: 36147510 Free PMC article.
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E, Cavole TR, Oliveira MG, Virmond LDA, Silva MFB, Soares MFF, Iglesias SBO, Falconi A, Silva JS, Nakano V, Milanezi MF, Mendes CSC, Curiati MA, Micheletti C. Perrone E, et al. Among authors: virmond lda. Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020. Genet Mol Biol. 2020. PMID: 32478789 Free PMC article.