Pricila Bernardi

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

Edenir Inêz Palmero, Dirce Maria Carraro, Bárbara Alemar et al. · Scientific Reports · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

Tiago Fernando Chaves, Luan Freitas de Oliveira, Maristela Ocampos et al. · BMC Medical Genomics · 2019 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +13

<i><scp>CBS</scp></i> mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Soraia Poloni, Fernanda Sperb‐Ludwig, Taciane Borsatto et al. · Molecular Genetics & Genomic Medicine · 2018 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

Tiago Fernando Chaves, Nathacha Baretto, Luan Freitas de Oliveira et al. · Scientific Reports · 2019 · 24 citations · Full text

Life Sciences, Genetics, Neurology +17