Presentation
Julie has been a Hospital Practitioner in the Genetic Department of Necker-Enfants Malades Hospital since 2006 and a Professor of Genetics at the Paris University since 2016.
Head of the Preimplantation Genetic Diagnosis laboratory since 2003, she conducts research works on mitochondrial DNA disorders and their consequences on human early embryos.
She investigates the potential impacts of mitochondrial DNA mutations over human embryofetal development, and develops methods of prevention and treatment of mitochondrial DNA disorders.
Resources & publications
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Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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Journal (source)J Exp Med
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...