Bianca Barbosa Abdala

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Cíntia Barros Santos-Rebouças, Raquel Boy, Evelyn Quintanilha Vianna et al. · Frontiers in Genetics · 2020 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Cíntia Barros Santos-Rebouças, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos et al. · NeuroMolecular Medicine · 2017 · 25 citations

Life Sciences, Genetics, Molecular Genetics +13

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation

Suely Rodrigues dos Santos, Rafael Mina Piergiorge, J.M.A.M. Rocha et al. · Metabolic Brain Disease · 2022 · 12 citations

Life Sciences, Genetics, Molecular Genetics +11

Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil

Bianca Barbosa Abdala, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves et al. · Neuroscience Letters · 2017 · 10 citations

Life Sciences, Genetics, Molecular Genetics +16