Magalie Barth
Centre National de la Recherche Scientifique(FR)Inserm(FR)Centre Hospitalier Universitaire d'Angers(FR)Université d'Angers(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer
Most-Cited Works
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly(2013)491 cited
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)271 cited
- → Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome(2018)150 cited
- → Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria(2013)139 cited