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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: spolador gm.
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: spolador gm.
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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Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA.
Ceroni JRM, et al. Among authors: spolador gm.
Skeletal Radiol. 2019 Aug;48(8):1201-1207. doi: 10.1007/s00256-019-3159-x. Epub 2019 Feb 2.
Skeletal Radiol. 2019.
PMID: 30712120
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Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA.
Stephan BO, et al. Among authors: spolador gm.
Clinics (Sao Paulo). 2022 Jul 23;77:100082. doi: 10.1016/j.clinsp.2022.100082. eCollection 2022.
Clinics (Sao Paulo). 2022.
PMID: 35882106
Free PMC article.
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Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital.
Spolador GM, Bueno C, Polastrini RTV, Zoboli I, Henrique AC, Freitas E, do Nascimento AG, Pugliese C, Kok F, Barbosa SMM.
Spolador GM, et al.
JIMD Rep. 2024 Mar 31;65(3):182-187. doi: 10.1002/jmd2.12417. eCollection 2024 May.
JIMD Rep. 2024.
PMID: 38736637
Free PMC article.
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Epidemiological Assessment of a Pediatric Palliative Care Clinic at a Brazilian Quaternary Hospital: 20 Years of Experience.
Spolador GM, Bastos F, Polastrini RTV, Zoboli I, Henrique AC, Vieira Filho JP, da Silveira MRM, Freitas E, do Nascimento AG, de Macedo Barbosa SM.
Spolador GM, et al.
J Palliat Med. 2024 Apr;27(4):503-507. doi: 10.1089/jpm.2023.0305. Epub 2024 Feb 22.
J Palliat Med. 2024.
PMID: 38387013
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Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.
Kelmann SV, Stephan BO, Barbosa SMM, Polastrini RTV, Oliveira ZNP, Rivitti-Machado MC, Spolador GM, Honjo RS, Saida K, Matsumoto N, Kim CA.
Kelmann SV, et al. Among authors: spolador gm.
An Bras Dermatol. 2024 May-Jun;99(3):350-356. doi: 10.1016/j.abd.2023.07.002. Epub 2024 Feb 16.
An Bras Dermatol. 2024.
PMID: 38368142
Free PMC article.
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