Presentation
Agnès RÖTIG is research director (DR1, INSERM) in Institut Imagine. She completed her PhD in mitochondrial biology in Université Pierre et Marie Curie. She carried a post-doctoral training in INSERM U12 in Necker hospital during which she has built her research group in the field of mitochondrial disorders in very close collaboration with the Genetic Unit of Necker Hospital. By using gene mapping, candidate gene analysis and now next generation sequencing, she has described several novel genes responsible of these disorders.
Resources & publications
-
Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
-
Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
-
Journal (source)J Exp Med
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...