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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
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
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. Among authors: baratela wadr.
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
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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. Among authors: baratela wadr.
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.
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EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL.
Cavichio MWE, Quaio CRDC, Baratela WADR, Oliveira PMC, Tahan S.
Cavichio MWE, et al. Among authors: baratela wadr.
Arq Gastroenterol. 2024 Mar 4;61:e23104. doi: 10.1590/S0004-2803.24612023-104. eCollection 2024.
Arq Gastroenterol. 2024.
PMID: 38451663
Free article.
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