Israel Gomy

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +4

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

Mev Dominguez–Valentin, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos et al. · Familial Cancer · 2011 · 31 citations

Mendelian Disorder, Genetic Disorder, Medicine +6

Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights

Israel Gomy, Benjamin Heck, Antônio Carlos dos Santos et al. · American Journal of Medical Genetics Part A · 2008 · 28 citations

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

Felippe Borlot, Paula Ricci Arantes, Caio Robledo D’Angioli Costa Quaio et al. · American Journal of Medical Genetics Part A · 2014 · 24 citations

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

Israel Gomy, Greice Andreotti de Molfetta, Ester A. Barreto et al. · Familial Cancer · 2010 · 23 citations

Mendelian Disorder, Genetic Disorder, Genetics +13