Presentation
Chris, MD, PhD and PU-PH, is a Professor of Biochemistry and Molecular Biology at the University of Paris Centre with hospital appointment in the Metabolomics Unit of the Department of Biology, Physiology and Genetics at the Hospital Necker-Enfants Malades. After training in human genetics and bioinformatics, he took a 5-year post-doctoral fellowship on mouse models of sex reversal and premature ovarian failure in the Department of Genetics of the National Institute on Aging (NIA, NIH) in Baltimore USA.
His current research interests include :
1) Discovery and biochemical characterization of novel genes involved in inherited metabolic disorders,
2) Study of amino acid metabolic pathways modulating Krebs cycle oncometabolic dysfunctions,
3) Mass spectrometry metabolomics and flux analyses for the robust quantitation of small molecules of clinical interest.
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 ...