Véronique Rüfenacht

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 · 74 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 54 citations · Full text

Life Sciences, Biochemistry, Physiology +16

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 46 citations

Life Sciences, Genetics, Molecular Genetics +17