Rafaella Mergener

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Rafaella Mergener, Gabriel Vasata Furtado, Eduardo Preusser de Mattos et al. · NeuroMolecular Medicine · 2019 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene

Márcia Polese-Bonatto, Hugo Bock, Ana Carolina Silva Rodrigues Farias et al. · Molecular Neurobiology · 2019 · 21 citations

Life Sciences, Genetics, Molecular Genetics +17

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

Karen Regina de Souza, Rafaella Mergener, Janaína Huber et al. · BioMed Research International · 2015 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome

Wouter Huiting, Suzanne L. Dekker, Joris CJ van der Lienden et al. · eLife · 2022 · 18 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite et al. · BioMed Research International · 2018 · 14 citations · Full text

Life Sciences, Genetics, Systems Biology +15