Author

Flavien Rouxel

Observed name: Rouxel, Flavien

Institutions: Inserm, Centre Hospitalier Universitaire de Montpellier

Observed institutions: Inserm, Université de Montpellier, Centre Hospitalier Universitaire de Montpellier, Institute for Regenerative Medicine & Biotherapy, ERN ITHACA

OpenAlex ID: A5016429935

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

2022 · Flavien Rouxel, Raissa Relator, et al. · Genetics in Medicine · 23

Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

2024 · Quentin Hennocq, Marjolaine Willems, et al. · Scientific Reports · 21

DNA methylation episignature in Gabriele-de Vries syndrome

2022 · Florian Cherik, Jack Reilly, et al. · Genetics in Medicine · 16

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases

2023 · Lottie D. Morison, Olivia van Reyk, et al. · European Journal of Human Genetics · 15

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

2021 · Flavien Rouxel, Kevin Yauy, et al. · European Journal of Human Genetics · 8

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

2023 · Katalin Szakszon, Charles Marques Lourenco, et al. · Journal of Medical Genetics · 4

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

2022 · Flavien Rouxel, Julien Fauré, et al. · Heliyon · 4

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

2026 · Quentin Sabbagh, Camille Cenni, et al. · European Journal of Human Genetics · 2

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy

2026 · Jonathan Marquez, Flavien Rouxel, et al. · Human Genetics and Genomics Advances

Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases

2023 · Lottie D. Morison, Olivia van Reyk, et al. · European Journal of Human Genetics

Works count: 12

Citation count: 93

H-index: 5

I10-index: 4