Concepedia

Caroline Michot

CM

Statistics

Publications

45

Citations

2.8K

H-Index

27

Active since

1994

Affiliations

Inserm(Current)

Université Paris Cité

Hôpital Necker-Enfants Malades

Assistance Publique – Hôpitaux de Paris

Sorbonne Paris Cité

Caroline Michot is an author at Inserm specializing in genetic disorders, genetics, and human genetics.

ORCID

Publications per year

1994–2025

45

Publications

45

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot, Thomas Blanc, Laureline Berteloot et al. · Nature · 2018 · 575 citations · Full text

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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 · 256 citations · Full text

, , +13

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 · 140 citations · Full text

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

Caroline Michot, Laurence Hubert, Michèle Brivet et al. · Human Mutation · 2010 · 132 citations · Full text

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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 · 127 citations · Full text

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1–5 of 45