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Israel Gomy, Ph.D., M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Gomy I, Garber JE. One step forward, two steps backward. Genet Med. 2020 02; 22(2):441-442. PMID: 31578472.
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  2. Gomy I. Editorial: Hereditary Cancer Risk Assessment: New Perspectives and Challenges for the Next-Gen Sequencing Era. Front Oncol. 2016; 6:133. PMID: 27376026.
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  3. Gomy I, Diz Mdel P. Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era. Genet Mol Biol. 2016 May 13; 39(2):184-8. PMID: 27192130.
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  4. Villacis RA, Miranda PM, Gomy I, Santos EM, Carraro DM, Achatz MI, Rossi BM, Rogatto SR. Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes. Int J Cancer. 2016 Apr 15; 138(8):1928-35. PMID: 26620301.
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  5. Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Gomy I, Bertola DR, Kim CA. Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement. Am J Med Genet A. 2014 May; 164A(5):1162-9. PMID: 24478273.
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  6. Gomy I, Estevez Diz Mdel P. Hereditary cancer risk assessment: essential tools for a better approach. Hered Cancer Clin Pract. 2013 Oct 28; 11(1):16. PMID: 24165150.
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  7. Valentin MD, Da Silva FC, Santos EM, Da Silva SD, De Oliveira Ferreira F, Aguiar Junior S, Gomy I, Vaccaro C, Redal MA, Della Valle A, Sarroca C, Rasmussen LJ, Carraro DM, Rossi BM. Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome. Anticancer Res. 2012 Oct; 32(10):4347-51. PMID: 23060557.
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  8. Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA. A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome. Clinics (Sao Paulo). 2012 Aug; 67(8):917-21. PMID: 22948460.
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  9. Honjo RS, Dutra RL, Nunes MM, Gomy I, Kulikowski LD, Jehee FS, Kim CA. Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty. J Genet Genomics. 2012 Oct 20; 39(10):571-4. PMID: 23089367.
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  10. Monteiro Santos EM, Valentin MD, Carneiro F, de Oliveira LP, de Oliveira Ferreira F, Junior SA, Nakagawa WT, Gomy I, de Faria Ferraz VE, da Silva Junior WA, Carraro DM, Rossi BM. Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. BMC Cancer. 2012 Feb 09; 12:64. PMID: 22321913.
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  11. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):308-13. PMID: 22265015.
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  12. Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Fam Cancer. 2011 Dec; 10(4):641-7. PMID: 21681552.
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  13. Quaio CR, Grinberg H, Vieira ML, Paula AC, Leal GN, Gomy I, Leistner-Segal S, Giugliani R, Bertola DR, Kim CA. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). JIMD Rep. 2012; 4:125-8. PMID: 23430907.
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  14. Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. Fam Cancer. 2010 Dec; 9(4):635-42. PMID: 20567917.
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  15. Funayama CA, Pfeifer LI, Ramos ES, Santucci PZ, Gomy I, Neto AM. Three-year-old child with meroacrania - neurological signs. Brain Dev. 2011 Jan; 33(1):86-9. PMID: 20189331.
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  16. Gomy I, Heck B, Santos AC, Figueiredo MS, Martinelli CE, Nogueira MP, Pina-Neto JM. Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. Am J Med Genet A. 2008 Mar 01; 146A(5):649-57. PMID: 18247421.
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  17. Peres LC, Barbosa GH, Careta RS, Nassif CM, de Pina-Neto JM, Giuliani LR, Martinhago CD, Gomy I. Splenopancreatic field abnormality is not unique to trisomy 13. Pediatr Dev Pathol. 2004 Jan-Feb; 7(1):91-4. PMID: 15255041.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.