Apolline Imbard

<i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Audrey Sabbagh, Éric Pasmant, Apolline Imbard et al. · Human Mutation · 2013 · 173 citations · Full text

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 146 citations · Full text

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Apolline Imbard, Audrey Boutron, Christiane Vequaud et al. · Molecular Genetics and Metabolism · 2011 · 88 citations

Molecular Characterization, Aldo-keto Reductase, Aldehyde Dehydrogenase +8

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Virgínia Guarani, Claude Jardel, Dominique Chrétien et al. · eLife · 2016 · 64 citations · Full text