Caroline Michot

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot, Thomas Blanc, S. Hadj‐Rabia et al. · Nature · 2018 · 542 citations · Full text

Receptor Tyrosine Kinase, Pathology, Medicine +3

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot et al. · Journal of Medical Genetics · 2007 · 253 citations · Full text

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot, Laurence Hubert, Michèle Brivet et al. · Human Mutation · 2010 · 130 citations · Full text

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Caroline Michot, Carine Le Goff, Alice Goldenberg et al. · The American Journal of Human Genetics · 2012 · 123 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9