Véronique Rüfenacht

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Dea Adamsen, V. Ramaekers, Horace T. B. Ho et al. · Molecular Autism · 2014 · 72 citations · Full text

Mutations and common variants in the human arginase 1 (<i>ARG1</i>) gene: Impact on patients, diagnostics, and protein structure considerations

Carmen Dı́ez-Fernández, Véronique Rüfenacht, Corinne Gemperle et al. · Human Mutation · 2018 · 69 citations

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht et al. · Journal of Medical Genetics · 2017 · 51 citations · Full text

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Carmen Dı́ez-Fernández, Véronique Rüfenacht, Saikat Santra et al. · Genetics in Medicine · 2016 · 49 citations · Full text

Life-threatening Metabolic Crisis, Energy Metabolism, Hepatology +13

Mutations and Polymorphisms in the Human<i>Argininosuccinate Lyase</i>(<i>ASL</i>) Gene

Cécile Balmer, Amit V. Pandey, Véronique Rüfenacht et al. · Human Mutation · 2013 · 45 citations

Genetics, Pathology, Molecular Biology +16