Gabriela Oprea

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Gabriela Oprea, Sandra Kröber, Michelle L. McWhorter et al. · Science · 2008 · 491 citations

Life Sciences, Genetics, Molecular Genetics +13

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Claudia Helmken, Yvonne Hofmann, Frank J. Schoenen et al. · Human Genetics · 2003 · 125 citations

Life Sciences, Genetics, Molecular Genetics +6

A comprehensive global genotype–phenotype database for rare diseases

Daniel Trujillano, Gabriela Oprea, Yvonne Schmitz et al. · Molecular Genetics & Genomic Medicine · 2016 · 71 citations · Full text

Life Sciences, Biomedical Informatics, Genetics +17

Novel <i>GNB1</i> mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Katja Lohmann, Ikuo Masuho, Dipak N. Patil et al. · Human Molecular Genetics · 2017 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber et al. · Journal of Neurodevelopmental Disorders · 2019 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17