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Page 1
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. Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022. Front Genet. 2022. PMID: 36147510 Free PMC article.
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Quaio CR, et al. Clinics (Sao Paulo). 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03. Clinics (Sao Paulo). 2013. PMID: 24037001 Free PMC article.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, Sacramento-Bobotis PR, Penna MG, de Souza RRF, Cintra VP, Carnavalli JEP, da Silva RA, Paixão D, Baratela WADR, Olivati C, Spolador GM, Santos MNP, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, E Ferreira EN, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16. Am J Med Genet C Semin Med Genet. 2021. PMID: 34269512
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. Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6. Hum Genomics. 2023. PMID: 37968704 Free PMC article.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021. Genet Mol Biol. 2021. PMID: 34609444 Free PMC article.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. McGee SR, et al. Among authors: quaio crac. Hum Mol Genet. 2023 Jan 13;32(3):386-401. doi: 10.1093/hmg/ddac200. Hum Mol Genet. 2023. PMID: 35981081 Free PMC article.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, da Silva RA, Santos MNP, de Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, E Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, de Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, de Carvalho MHB, de Souza AWS, Andrade LEC, Chauffaille ML, Perazzio ADSB, Catelani ALPM, Mitne-Neto M, Kim CA, Baratela WADR. Quaio CRDC, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30. Am J Med Genet C Semin Med Genet. 2020. PMID: 33258288
18 results