| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 194 | 2012 |
| Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals MD Valentin, FC Silva, EMM Santos, BG Lisboa, LP De Oliveira, ... Familial cancer 10, 641-647, 2011 | 32 | 2011 |
| Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes RAR Villacis, PM Miranda, I Gomy, EMM Santos, DM Carraro, MI Achatz, ... International journal of cancer 138 (8), 1928-1935, 2016 | 30 | 2016 |
| Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights I Gomy, B Heck, AC Santos, MSL Figueiredo, CE Martinelli Jr, ... American Journal of Medical Genetics Part A 146 (5), 649-657, 2008 | 29 | 2008 |
| Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation I Gomy, GA Molfetta, E de Andrade Barreto, CA Ferreira, DL Zanette, ... Familial cancer 9, 635-642, 2010 | 23 | 2010 |
| Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement F Borlot, PR Arantes, CR Quaio, JFS Franco, CM Lourenço, I Gomy, ... American Journal of Medical Genetics Part A 164 (5), 1162-1169, 2014 | 22 | 2014 |
| Report of a large Brazilian family with a very attenuated form of hunter syndrome (MPS II) C Quaio, H Grinberg, MLC Vieira, AC Paula, GN Leal, I Gomy, ... JIMD Reports-Case and Research Reports, 2012/1, 125-128, 2012 | 20 | 2012 |
| Atypical deletion in Williams–Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty RS Honjo, RL Dutra, MM Nunes, I Gomy, LD Kulikowski, FS Jehee, ... Journal of Genetics and Genomics 10 (39), 571-574, 2012 | 16 | 2012 |
| Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries EM Monteiro Santos, MD Valentin, F Carneiro, LP de Oliveira, ... BMC cancer 12, 1-9, 2012 | 14 | 2012 |
| A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome CRD Quaio, TF Almeida, LMJ Albano, I Gomy, DR Bertola, MC Varela, ... Clinics 67, 917-921, 2012 | 14 | 2012 |
| Splenopancreatic field abnormality is not unique to trisomy 13 LC Peres, GHTS Barbosa, RS Careta, CM Nassif, JM Pina-Neto, ... Pediatric and Developmental Pathology 7, 91-94, 2004 | 14 | 2004 |
| Germline testing data validate inferences of mutational status for variants detected from tumor-only sequencing N Jalloul, I Gomy, S Stokes, A Gusev, BE Johnson, NI Lindeman, ... JCO Precision Oncology 5, 1749-1757, 2021 | 12 | 2021 |
| Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome E Perrone, ABA Perez, V D'Almeida, CB de Mello, MAA Jacobina, ... American Journal of Medical Genetics Part A 185 (4), 1047-1058, 2021 | 10 | 2021 |
| Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era I Gomy, MDPE Diz Genetics and Molecular Biology 39, 184-188, 2016 | 10 | 2016 |
| Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program BL Bychkovsky, T Li, J Sotelo, N Tayob, J Mercado, I Gomy, A Chittenden, ... Clinical Cancer Research 28 (11), 2349-2360, 2022 | 9 | 2022 |
| Hereditary cancer risk assessment: essential tools for a better approach I Gomy, MDP Estevez Diz Hereditary cancer in clinical practice 11, 1-8, 2013 | 9 | 2013 |
| Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome MD Valentin, FC Da Silva, EMM Santos, SD Da Silva, FDO Ferreira, ... Anticancer research 32 (10), 4347-4351, 2012 | 9 | 2012 |
| Three-year-old child with meroacrania–Neurological signs CAR Funayama, LI Pfeifer, ES Ramos, PZ Santucci, I Gomy, AMA Neto Brain and Development 33 (1), 86-89, 2011 | 9 | 2011 |
| Molecular pathogenesis of renal cell carcinoma: a review I Gomy, WA Silva Jr INTECH Open Access Publisher, 2012 | 7 | 2012 |
| Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and … KCF Tosin, EF Legal, MAD Pianovski, HC Ibañez, G Custódio, ... Cancers 13 (23), 6111, 2021 | 6 | 2021 |
