Desirée Deconte

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

M. Fiegenbaum, R. Rosa, P. Zen, 2020, Journal of Pediatric Genetics.

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

R. Rosa, P. Zen, A. S. Santos, 2020, American journal of medical genetics. Part A.

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

R. Rosa, P. Zen, A. S. Santos, 2020, Journal of Pediatric Genetics.

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

R. Ligabue-Braun, M. Fiegenbaum, R. Rosa, 2020, Journal of Pediatric Genetics.

Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

R. Ligabue-Braun, S. Rogatto, M. Fiegenbaum, 2021 .

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

P. Zen, P. Silva, B. L. Diniz, 2023, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

R. Rosa, P. Zen, B. L. Diniz, 2021, Journal of Pediatric Genetics.