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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, Perrone E, De França M, Chen K, Minillo RM, Biondo CA, de Mello MRB, Moura LR, do Nascimento ATB, de Oliveira Pelegrino K, de Lima LB, do Amaral Virmond L, Moreno CA, Prota JRM, de Araujo Espolaor JG, Silva TYT, Moraes GHI, de Oliveira GS, Moura LMS, Caraciolo MP, Guedes RLM, Gretschischkin MC, Chazanas PLN, Nakamura CNI, de Souza Reis R, Toledo CM, Lage FSD, de Almeida GB, do Nascimento Júnior JB, Cardoso MA, de Paula Azevedo V, de Almeida TF, Cervato MC, de Oliveira Filho JB. Quaio CRDC, et al. Among authors: do amaral virmond l. Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6. Hum Genomics. 2023. PMID: 37968704 Free PMC article.
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL. Perrone E, et al. Among authors: do amaral virmond l. Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381921